Foundation
NewsLine and Recent Website Updates
Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin~ December 11th, 2012 ~ |
Hello NNPDF Families and Friends,
The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C (NPC) patients.
The TRND NIH NPC Team working on the FDA “IND” (Food and Drug Administration “Individual New Drug”) clinical trial application met yesterday (Monday, December 10th, 2012) via a telephone conference call with representatives from the Food and Drug Administration overseeing the teams clinical trial application. During the call, the FDA addressed some issues that the NPC Team must address as it pertains to the IND application.
Currently, all time and talent of the associated TRND NIH NPC team members is being directed to this task so that they can respond to the FDA representatives as soon as possible.
The TRND NIH NPC team has advised that they expect to receive additional feedback on the requested clinical trial protocol from the Food and Drug Administration by this Friday, December 14th, 2012 (the end of the 30 day review period.)
The members of the TRND NIH NPC team have advised that they will let us know about the FDA’s response/feedback as soon as it becomes available. The NNPDF will continue to monitor these matters and advise.
Kind regards,
Nadine Hill; NNPDF Executive Director
[Dec 11th, 2012 blg]
Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin~ December 7th, 2012 ~ |
An informational conference call/webinar was held on November 6th in regards to an update on the NIH TRND Cyclodextrin trial.
The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C patients. The clinical trial is the final stages of collecting and receiving approval from the Food and Drug Administration in the United States to move a head on a Phase I trial.
Below are links to informational material discussed during the call:.
- TRND NIH Cyclodextrin Clinical Trial Conference Call ~ AGENDA
- Historical Timeline of Cyclodextrin Research and Clinical Therapy
- TRND NIH NPC Team Cyclodextrin Clinical Trial Flyer ~ Dated: 11/28/2012
Unfortunately, the program recording the session malfunctioned and we were unable to retrieve it, but a written summary will be forthcoming.
[Dec 7th, 2012 blg]
Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin~November 2012~ |
Planned Phase I Study of Cyclodextrin (HP-β-CD) for NPC1 Disease
Since our last communication in September 21, 2012, the National Institutes of Health Therapeutics for Rare and Neglected ~ Niemann-Pick Disease Type C team has continued to move forward in the preparation of the Phase I Study of Cyclodextrin (HP-b-CD) for NPC1 Disease.
The TRND NPC Team is pleased to announce that the Investigational New Drug (IND) application for intraventricular hydroxypropyl-β-cyclodextrin (HPBCD) was filed with the FDA today, November 14th. This was a major effort by multiple research laboratories, several NIH institutes, Johnson and Johnson and a team of pharmaceutical and regulatory consultants. This effort would not have been possible without the assistance of the many patient support organizations.
Our ultimate goal is to develop a safe, effective and accessible therapy for all individuals with NPC1. The IND filing is a major step in this process, but just one of the initial steps. We are hopeful that the very promising preclinical findings in mice and cats will translate to an effective therapy in individuals with NPC1. The goal of this first trial is to rapidly determine a safe and biochemically effective dose of HPBCD. These data are critical to the proper design and execution of a multicenter efficacy trial that will allow this drug, if determined to be safe and effective, to be approved by regulatory agencies, and ultimately to be made available to all NPC1 patients.
We appreciate the ongoing support from the NPC community and will continue to update the community on this trial.
For questions email us at [email protected]
Respectfully submitted by:
TRND NPC Team
Therapeutics for Rare and Neglected Disease ~ Niemann-Pick Type C Disease Team
FDA United States Food and Drug Administration
ICV Intracerebroventricular
IND Investigational New Drug
IRB Institutional Review Board
NICHD National Institute of Child Health and Human Development
NIH National Institutes of Health
NPC Niemann-Pick Disease Type C Disease
TRND Therapeutics for Rare and Neglected Diseases
Members of the TRND ~ NPC Team . Photo taken on Nov 1, 2011, at an update meeting with the FDA.
Front row
(left to right): Ilona Scott (J&J), Pat Frenchick (RRD), Sandie Morseth (RRD), Kimberly Lilly (RRD), Mark Kao (J&J), Nicole Yanjanin (NIH/NICHD), Liz Ottinger (NIH/TRND), Nuria Carrillo-Carrasco (NIH/TRND), Xin Xu (NIH/TRND)
Second row
(left to right): Steve Walkley (Albert Einstein College of Medicine), Charles Vite (UPenn), Chuck Finn (RRD), Joy Vander Wal (RRD), Steven Silber (J&J), John McKew (NIH/TRND), Denny Porter (NIH/NICHD), Dan Ory (Washington University School of Medicine), Chris Austin (NIH/TRND), John Heiss (NIH/NINDS), Wei Zheng (NIH/TRND)
Not pictured:
Juan Marugan (NIH/TRND), Bill Pavan (NIH/NHGRI), and Pramod Terse (NIH/TRND)
[Nov 14,2012 nmh]
Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin~ September 2012 ~ |
Planned Phase I Study of Cyclodextrin (HP-β-CD) for NPC1 Disease
Since our last communication in December 2011, the National Institutes of Health Therapeutics for Rare and Neglected ~ Niemann-Pick Disease Type C team has continued to move forward in the preparation of the Phase I Study of Cyclodextrin (HP-b-CD) for NPC1 Disease.
The goal of the NIH/TRND NPC team is to collaboratively develop a safe, effective and FDA-approved therapy for patients with NPC1. The protocol has undergone ethics review by the National Institute of Child Health and Human Development (NICHD) Institutional Review Board (IRB) and they requested only minor changes.
Currently we are expecting to submit an Investigational New Drug (IND) application to the Food and Drug Administration (FDA) before the end of 2012. To date, our major issue has been completing the juvenile dog study that the FDA has requested. If no problems are encountered with the IND, we are anticipating that the clinical trial will start in January.
The goal of this Phase 1 trial is to establish safe and biochemically effective dosing regimen for HP-b-CD treatment of human NPC1 subjects. To attain this we are using a systematic, controlled, and scientifically rigorous approach. HP-b-CD will be given by intracerebroventricular (ICV) administration via an Ommaya reservoir. This dose escalation study will include 9 patients divided in 3 dosing cohorts. The study is designed to determine the best benefit-risk profile, determine whether dose or time of treatment is most important in NPC and to avoid giving suboptimal doses. Information of the eligibility criteria will be available once the protocol is approved.
If a safe and biochemically effective dose is determined in this Phase I study, we plan to move forward with a Phase II, multi-center trial to evaluate for efficacy. Planning for this trial is already in progress.
For questions email us at [email protected]
Respectfully submitted by:
TRND NPC Team
Therapeutics for Rare and Neglected Disease ~ Niemann-Pick Type C Disease Team
FDA United States Food and Drug Administration
ICV Intracerebroventricular
IND Investigational New Drug
IRB Institutional Review Board
NICHD National Institute of Child Health and Human Development
NIH National Institutes of Health
NPC Niemann-Pick Disease Type C Disease
TRND Therapeutics for Rare and Neglected Diseases
Members of the TRND ~ NPC Team . Photo taken on Nov 1, 2011, at an update meeting with the FDA.
Front row
(left to right): Ilona Scott (J&J), Pat Frenchick (RRD), Sandie Morseth (RRD), Kimberly Lilly (RRD), Mark Kao (J&J), Nicole Yanjanin (NIH/NICHD), Liz Ottinger (NIH/TRND), Nuria Carrillo-Carrasco (NIH/TRND), Xin Xu (NIH/TRND)
Second row
(left to right): Steve Walkley (Albert Einstein College of Medicine), Charles Vite (UPenn), Chuck Finn (RRD), Joy Vander Wal (RRD), Steven Silber (J&J), John McKew (NIH/TRND), Denny Porter (NIH/NICHD), Dan Ory (Washington University School of Medicine), Chris Austin (NIH/TRND), John Heiss (NIH/NINDS), Wei Zheng (NIH/TRND)
Not pictured:
Juan Marugan (NIH/TRND), Bill Pavan (NIH/NHGRI), and Pramod Terse (NIH/TRND)
[Sep 21, 2012 nmh]
Development of Therapeutic Interventions for Niemann-Pick Disease, Type C1Videocast of Presentation by Dr. Forbes D. Porter, NIH |
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Dr. Forbes "Denny" Porter of the National Insitute of Child Health and Human Development, National Institutes of Health, presented Clinical Center Grand Rounds at the National Institutes of Health on May 16, 2012. Dr. Porter's presentation was titled Development of Therapeutic Interventions for Niemann-Pick Disease, Type C1.
The NIH produced a videocast of Dr. Porter's presentation, and you can watch the video or download it from this link (Dr. Porter's presentation is approximately the first half of the 45-minute video):
http://videocast.nih.gov/Summary.asp?File=17266
[May 25, 2012 mem]
Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin |
The NIH/TRND NPC team met again with representatives of the FDA on Tuesday, December 13, to discuss plans for the upcoming clinical trial of cyclodextrin, and we are pleased to be able to share the update below.
NNPDF members can be assured the foundation will continue to keep families up-to-date on information about plans for this and all clinical trial as details become available. Updates will be posted here to the NewsLine page, as well as to the Facebook page and the listserv groups.
For more information about TRND (Therapies for Rare and Neglected Diseases program) and the six pilot projects selected (including NPC), see this press release from NIH .
Update from the December 13 meeting:
Dear families and friends of the NPC community,
The collaborative group planning a cyclodextrin clinical trial at the National Institutes of Health (NIH) for the treatment of Niemann-Pick type C (NPC) disease met with the Food and Drug Administration (FDA) on Tuesday, December 13, 2011 as a follow up to the recently held November pre-IND meeting. On November 1, we met with the FDA Review Division staff to discuss the proposed development plan for cyclodextrin and needs for the IND application package.
Representatives from the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, participated in this meeting.
While the November meeting focused on the drug safety and toxicology data, the purpose of the December meeting was to discuss the proposed clinical trial design. Overall, the feedback from FDA was very positive and their comments and guidance will assist us in the generation of an IND application that is agreeable to FDA, thus allowing us to move forward with the initial clinical trial as soon as possible.
Preclinical toxicology and safety studies in animals are ongoing, and additional studies will be initiated shortly. These required nonclinical studies will guide the selection of drug doses for the initial trial and will provide essential safety information. In the upcoming months, we will be evaluating these study results and will incorporate them into the IND application and initial clinical protocol, which will then be submitted to FDA and the NIH Institutional Review Board (IRB). Once we have agreement from FDA and approval from the NIH IRB, we can share the specific details of the initial clinical trial, such as patient inclusion/exclusion criteria.
We are very excited about the progress we have made thus far and are encouraged by our recent meetings with FDA. We understand that the community is eager to start this initial trial as soon as possible and we do not have time to waste. Following the meeting, we believe that FDA shares our sense of urgency and we are grateful that they are willing to work closely with us to get this important initial trial started. As always, your support of NPC research is the final piece that will help us impact this disease. Thank you for your enthusiasm, your patience, and especially for trusting that we are making every effort to help individuals and families affected by NPC.
The TRND Team
[Dec 16, 2011 mem]
International Niemann-Pick Disease Alliance
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New goals and objectives for the INPDA were set for the next two years with an emphasis on collaboration of family services and research. The INPDA was established in 2009 to provide a forum for the exchange of information, experience and knowledge for the purpose of accelerating progress in the fight against Niemann-Pick Disease. |
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Attendees at the 2011
INPDA
meeting in Spain.
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The
Fundacion Niemann-Pick de Espana
held its family conference just prior to hosting
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Balloons were released during the memorial ceremony at the family conference in Spain. |
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[Dec 14, 2011 mem]
"What You See and What You Don't: Diagnosing Niemann-Pick Type C"
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Daniel Jonathon Flinton (NPC)
2006 - 2011 |
Jill Flinton, mother of Daniel Jonathon Flinton (NPC), wrote the story of her family's journey through Daniel's life with Niemann-Pick Disease Type C for Complex Child e-Magazine .
Daniel struggled with health problems throughout his short life. Due to the rarity, complexity and variability of NPC, he and his family traveled a long road before finding a diagnosis, as have so many families affected by NPD.
Read the Flinton family's story here .
[Dec 7, 2011 mem]
NNPDF 11-11-11 Challenge a HUGE Success!
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The NNPDF's 11-11-11 Challenge was a resounding success, raising awareness of Niemann-Pick Disease of all types, bringing in over $20,000 in funds dedicated to essential NPD research!
The NNPDF's Board of Directors extends sincere thanks to the 35+ families who took on the 11-11-11 Challenge, asking their friends, families, neighbors and co-workers to each donate $11 to the cause. We were amazed and grateful for the creativity and perseverance shown by our families and other supporters during the Challenge -- awareness videos, photo collages, Facebook pages, blogs, personal letters, face-to-face appeals, etc., all added up to the tremendous success of this group effort!
We also want to thank the hundreds of donors who each gave $11 and the many who gave larger amounts to help advance our Quest for a Cure!
The Bourgeault family of Charlotte, North Carolina, was the top fundraiser for Niemann-Pick Disease due to ASMD (Types A and B), conducting their challenge in honor of little Kaitlyn Bourgeault (NPA). Meghan Roberts of Massachusetts was the top fundraiser for Niemann-Pick Disease Type C (NPC), raising funds in memory of her cousin, Erin Roberts (NPC). Each winner will receive a $100 gift card to a national retailer.
More about the NNPDF's 11-11-11 Challenge
[Dec 5, 2011 mem]
Melana Marie Elfe
6/18/76 - 11/5/11
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| Melana Marie Elfe (NPC) |
We have received very sad news that Melana Marie Elfe has passed away due to the effects of Niemann-Pick Disease Type C. Her final days were spent surrounded by family and friends.
Melana's life would seem too short to many, but those who were touched by her understood that the quality of existence far exceeds the quantity of time in which one lives. Her big smile, strong will and caring personally will be missed by family and friends. Family was the most important thing in Melana's life, always placing family before her own needs. Melana enjoyed reading, travelling, and big family meals.
Melana held a degree in Child Care Development and she loved taking care of children of all ages. She also served in the Army as a Supply Specialist for 3 years including time overseas.
Melana is survived by her loving son, Allan Elfe Jr.; husband Allan Elfe Sr.; parents Gene and Margaret Steele; grandmother Betty Luttrell; and other caring family members.
Melana's family thanks the Denver North Care Facility for the excellent care they provided during her declining health issues.
A Celebration of Life service was held on Friday, November 11, 2011, at Mountain View Mortuary, Colorado Springs, Colorado.
The family requests that memorials be made to the National Niemann-Pick Disease Foundation (NNPDF).
[Dec 5, 2011 mem]
Daniel Jonathon Flinton
12/7/06 - 11/11/11
| Daniel Jonathon Flinton (NPC) |
We've received the heartbreaking news that Daniel Jonathon Flinton has passed away due to Niemann-Pick Disease Type C (NPC). Daniel was the beloved son of Jill and Faron Jon Flinton of Charlton, New York. Born on Pearl Harbor Day, Daniel died on Veterans Day. He was almost five years old.
Survivors include Daniel's parents, Faron Jon and Jill Foulds Flinton; brothers Frank and Faron Ja Flinton; maternal grandmother Adelaide Klivans and her husband Gary, formerly of Cortlandt Manor; maternal great grandmother Adelaide Groundwater; and many aunts, uncles, nieces, nephews and cousins. Daniel was predeceased by his maternal great grandfather Jack Foulds, and paternal grandparents, Frank and Florence Flinton.
Calling hours will be Sunday, November 13, 2011, from 1:00 to 5:00 p.m., at Mevec Funeral Home, 224 Milton Avenue, Ballston Spa, NY, during which a memorial service will be conducted at 2:00 p.m.
Memorials in Daniel's name may be made to the National Niemann Pick Disease Foundation, P.O. Box 49, Fort Atkinson, WI, 53538.
Our deepest sympathy goes out to Daniel's family at this very difficult time.
Obituary at Mevec Funeral Home
[Nov 11, 2011 mem]
NIH Offers Two Free Curriculum Supplements
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These are the latest installments in a popular NIH series aligned with state and national education standards and designed to promote inquiry-based, interdisciplinary learning and stimulate student interest in science. The supplements were developed by leading scientists, educators, and curriculum experts, and combine cutting-edge medical research discoveries with state-of-the-art instructional materials. Each has a self-contained teacher's guide consisting of five lessons on science and human health and including online virtual labs, videos, and simulations. Evolution and Medicine, for grades 9–12 , helps students use scientific inquiry in the context of medicine to understand evolutionary principles. Students will learn how evolution is part of our knowledge of human health, biomedical processes, and disease treatment. To request Evolution and Medicine, visit http://science.education.nih.gov/q7 . Rare Diseases and Scientific Inquiry, for grades 6–8 , helps students explore how scientists research rare diseases and treatments and learn more about the workings of the human body. To request Rare Diseases and Scientific Inquiry, visit http://science.education.nih.gov/r7 . For more information, read the full press release . |
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[Nov 8, 2011 mem]
2012 WORLD Symposium Set for February 8 - 10
San Diego, California
The major educational activity of the Lysosomal Disease Network (LDN) has become the WORLD™ Symposium (WORLD -- We’re Organizing Research for Lysosomal Diseases), an annual activity with the first day focused on “basic research,” the second day on "translational research,” and the third on “clinical trials.”
In addition to serving the annual meeting of the LDN membership, this 8th WORLD™ Symposium 2012 will provide a multidisciplinary forum to present and discuss basic, translational, and clinical research, thus fostering innovative treatment for these diseases. This meeting platform promotes the sharing of basic and clinical science advances for all lysosomal diseases, and provides an opportunity to discuss the related treatment outcome issues. The symposium is open to physicians, scientists, patients, pharmaceutical industry, and others interested in lysosomal disorders.
NEW THIS YEAR: Lysosomal Diseases 101 -- Tuesday, February 7, 2012, 1pm-5pm
The Lysosomal Diseases 101 course will provide a foundation for researchers and health care practitioners who are interested in gaining more background on the diagnosis and treatment of lysosomal diseases. This course will cover accepted methods of diagnosis and treatment of the known lysosomal diseases. This course will not cover any new or ongoing research. This course will be taught at the graduate-student level and is targeted towards those who would like to learn more of the fundamental information that provides the basis for future research and treatments, as well as those who would benefit from a refresher on this topic.
Place
: Manchester Grand Hyatt, San Diego, California, USA
Sponsoring organization
: University of Minnesota’s Office of Continuing Medical Education
Co-presented by
: the Lysosomal Disease Network and the National Institutes of Health (NIDDK, NINDS, & ORD)
Brochure (PDF)
To register:
www.lysosomaldiseasenetwork.org
[Nov 8, 2011 mem]
Genzyme Raises Awareness During October Awareness Month
Parody Boys Featured on Posters
Genzyme conducted an in-house awareness campaign for October Niemann-Pick Disease Awareness Month. Posters featured a photo of Collin and Cohen Parody (both NPB), grandsons of NNPDF Board Member Kathy Lane.
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Genzyme's Clinical Development and Patient Advocacy teams |
| Genzyme's Science and Manufacturing teams |
[Nov 7, 2011 mem]
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**UPDATE**
National Institutes of Health ~ Cyclodextrin Therapy Trial
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Follow this link to read the November 4th, 2011, announcement: Cyclodextrin Trial Update 11-4-11 |
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Members of the NPC Team. Photo taken on Nov 1, 2011, at an update meeting with the FDA. For more background on the upcoming cyclodextrin trial visit the NNPDF's Cyclodextrin Clinical Trial page . [Nov.4, 2011 nmh] |
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International Niemann-Pick Disease Alliance
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Both the NNPDF and the CCNNPDF will be represented at this meeting. |
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Members of INPDA organizations met for the first time in Scotland in the fall of 2009. For more information about the INPDA, visit the Alliance's Web site at: http://inpda.org |
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[Nov 4, 2011 mem]
Stephanie Francis Lawrence
1987 - 2011
| Stephanie Francis Lawrence (NPC) |
It is with great sadness that we learned of the death of Stephanie Francis Lawrence of London, Ontario, Canada, as a result of Niemann-Pick Disease Type C. Stephanie was 24-years-old and is survived by her mother, Debbie Lawrence, her father, Brian Lawrence, and many other relatives and friends.
Stephanie's brother, BJ Lawrence, preceded her in death in 2008, also from the effects of NPC. A celebration of Stephanie's life was held on October 13. All our sympathy to the Lawrence family at this most difficult time.
The family has asked that memorial gifts be made to the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF).
Obituary at yourlifemoments.ca
[Nov 4, 2011 mem]
Mia Walts
5/31/09 - 10/29/11
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Mia Walts (NPA) |
Our deepest sympathy goes out to Joe and Rachel Walts, parents of little Mia Walts, who passed away October 29, from the effects of Niemann-Pick Disease Type A (NPA). Two-and-a-half year old Mia passed peacefully at home in the arms of her family.
Mia's parents put together a timeline depicting Mia's progression through NPA, and have graciously agreed to let us post a link.
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Even though her time here on earth was brief, Mia was obviously the light of her parents' lives, and we are deeply saddened by their loss.
[Nov 4, 2011 mem]
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11-11-11 Challenge Contest Update The close of the 11-11-11 Challenge Contest is coming soon. The top two fundraisers (one for NPC, one for ASMD/Types A & B) will receive a prize in the form of a $100 gift certificate to a national retailer.
If you are participating in the contest, please note the following important dates and deadlines.
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For donations to be counted in contest totals:
Please contact the NNPDF Central Office with any questions.
[Nov 1, 2011 mem]
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Gavin Lopez
4/14/04 - 10/30/11
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Gavin Lopez (NPC) |
We are extremely saddened to pass along word that seven-year-old Gavin Lopez has passed away due to the effects of Niemann-Pick Disease Type C. Gavin is survived by his parents, Fernando and Kristen Lopez, of Little Elm, Texas, and a younger brother and sister, along with many other relatives and friends.
The viewing will be held this Thursday, November 3, from 6:00 - 8:00 p.m. at Turrentine Jackson Morrow on Main Street in Frisco, between the Dallas North Tollway and Preston Road, and the funeral will be Friday, November 4, at 2:00 p.m. at the same location.
Our hearts and deepest sympathy go out to the Lopez family in their loss.
[Oct 31, 2011 mem]
Becky McGuire Joins NNPDF Board of Directors
| Kelly Thompson (NPC) and her cousin, Becky McGuire, NNPDF Director-at-Large |
The National Niemann-Pick Disease Foundation is pleased to welcome Becky McGuire as a new member of the NNPDF Board of Directors. Becky is the cousin of Kelly Thompson (NPC) and has been active in fundraising and awareness activities for several years.
Please visit our Meet the Board page for more information about the NNPDF's all-volunteer board and board activities.
[Oct 24, 2011 mem]
Bouchard Family Featured on FAA Employee Web Site
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The Bouchard Twins (NPC)
2006 - 2008 |
Kristen and Justin Bouchard and their twin daughters, Cathryn and Corynne Bouchard, were featured in a recent article on a Web site for employees of the FAA. The Bouchards lost their twins to Niemann-Pick Disease Type C (NPC) in 2008, before they were even two years old.
The article (pdf)
encourages employees to sign up for the Combined Federal Campaign (CFC) employee giving program, and suggests the National Niemann-Pick Disease Foundation as a worthy charity for employees to designate as the recipient of their donations. To designate CFC donations for the NNPDF, indicate #10121 on the sign-up forms.
More information about donating through CFC or United Way.
[Oct 21, 2011 mem]
Sawsan Moubarak (NPC)
2001-2011
| Sawsan Moubarak (NPC) |
It is with great sadness that we pass along word of the death of 10-year-old Sawsan Mubarak due to the effects of Niemann-Pick Disease Type C. Sawsan is survived by her father, NNPDF member Ghassan (Jason) Moubarak of Ontario, Canada and Beirut, Lebanon, as well as a sister and a brother. Sawsan was preceded in death by her mother.
We extend our deepest sympathy to Sawsan's family and many friends in their loss.
[Oct 18, 2011 mem]
Quandts Make Presentation on NPC
Center for Rare and Neglected Disease
University of Notre Dame
| Ty and an old friend | Dr. Kasturi Haldar of Notre Dame and Karen Quandt, RN, MSN, NNPDF Board Chair |
Karen Quandt and son Ty (NPC) recently traveled to the University of Notre Dame's Center for Rare and Neglected Diseases (CRND), where they made the presentation titled, "Niemann-Pick type C disease - Ty's story - told by Karen and Ty Quandt." Ty led off the seminar with a PowerPoint from his iPad, and Karen followed with an in-depth presentation of the survey of NPC families which was the core of her master's thesis, "NNPDF Collaborative Study: Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C."
A summary of the Quandts' presentation and visit was recently featured on the CRND's Web page .
[Oct 17, 2011 mem]
Awareness Video Features Kaitlyn Bourgeault (NPA)
| Kaitlyn Bourgeault (NPA) |
To raise awareness of Niemann-Pick Disease Type A (NPA), the Bourgeault family created a video about their beautiful little girl, Kaitlyn. The video is accessible through the family's blog, Kaitlyn's Korner , and also on YouTube .
The family is also participating in the 11-11-11 Challenge to raise funding for research into ASMD (Acid Sphingomyelinase Deficiency, or Niemann-Pick Disease Types A and B).
[Oct 13, 2011 mem]
Dragon Boat Team Competes for NNPDF
Philadelphia, Pennsylvania
| Team "lifesavERs" competed in the 2011 Philadelphia International Dragon Boat Festival on October 1st, raising money for the National Niemann-Pick Disease Foundation in honor of the Coppola family of Bristol. Many of the team members are doctors, nurses and medical personnel from Aria Torresdale Hospital. The team placed very well, at 21st out of 157 teams! Team shirts carried the NNPDF motto of "PERSEVERE." | |
[Oct 11, 2011 mem]
One Family's Journey Through NPC
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NPC Researchers' Work Highlighted in
Journal of Biological Chemistry
A paper authored by Andrew Munkacsi, Ph.D., et al, was the featured Paper of the Week by the Journal of Biological Chemistry earlier this summer. Dr. Munkacsi is the NNPDF's newest Peter G. Pentchev postdoctoral fellow, studying Niemann-Pick Disease at Columbia University. Additional authors include Yiannis A. Ioannou, Ph.D. and Steve Sturley, Ph.D., both members of the NNPDF's Scientific Advisory Board.
Cruel to Be Kind: Genomic Exacerbation of Lipid Defect in Yeast Suggests New Therapy for a Pediatric Neurodegenerative Disease - An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease - see the Journal of Biological Chemistry's Web page for more information.
[Oct 3, 2011 mem]
NPC Work of Dr. Charles Vite Featured in
Penn Vet Research Newsletter
The work of Dr. Charles H. Vite, Assistant Professor of Veterinary Neurology in the Department of Clinical Studies, University of Pennsylvania - Philadelphia, is featured in the July 2011 issue of the Penn Vet Research newsletter. Dr. Vite is studying Niemann-Pick Disease Type C in cats, and the NNPDF is a supporter of Dr. Vite's NPC research.
Read the newsletter article here .
[Sept 23, 2011 mem]
Research Findings into Ebola Virus and ALS
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Two recent publications from researchers based at MIT and Harvard report that the NPC1 protein is an essential factor in allowing infection by the deadly Ebola virus. The MIT team lead by Brummelkamp et al. used a genetic screen to identify mutant cells that were unable to support Ebola infection. They identified a panel of genes related to uptake into endosomes, most notably NPC1. Cunningham and colleagues at Harvard used small molecule inhibitors to prevent Ebola infection, and in collaboration with Dan Ory at Washington University, demonstrated that the inhibitors were disrupting interaction between a viral protein and NPC1. These findings lay the groundwork for development of new drugs to prevent Ebola infection. The studies will spur further interest in the NPC1 protein, and could lead to new insights into its function.
Ebola virus entry requires the cholesterol transporter Niemann-Pick C1
Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection
Northwestern University recently reported on a major breakthrough in research on Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig's Disease. The findings could have ramifications for future research into Niemann-Pick Disease as well as other diseases with elements of dementia.
Major ALS Breakthrough: Researchers discover common cause of all forms of ALS
[Sept 6, 2011 mem]
10th Annual National Niemann-Pick Disease Awareness Month
October 2011
The families of the NNPDF are gearing up for this year's October Awareness Month! Some have asked their state's governor or their city's mayor to proclaim October as NPD Awareness Month, some are planning elaborate fundraising events, and some are working up simple awareness projects.
Fundraising and awareness can be as easy as setting up a table at the high school football game, handing out
brochures and newsletters
, or selling
PERSEVERE wristbands
for $1 each.
Remember -- awareness drives donations, donations drive research, and
essential research
will find effective treatments and a cure for Niemann-Pick Disease!
Please consider what you, together with the help of your family and friends, can do to help raise awareness and funding during this October Niemann-Pick Disease Awareness Month! Visit our
October Awareness Month page
to see what projects our families conducted during last year's Awareness Month -- you may find an idea that works for you. We will begin posting this year's October Awareness projects and events soon, so please be sure to let us know what you're "cooking up."
We are also happy to help you with ideas, press releases, "best practices," and much more. Please
contact us
and let us know how we can be of assistance! Thank you for your support!
[Aug 29, 2011 mem]
Lopez Family Interviewed for "The Doctors"
Scheduled to Air September 12
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Gavin Lopez (right) snuggles with his dad,
Fernando Lopez, and little brother |
Kristen and Fernando Lopez, parents of seven-year-old Gavin Lopez (NPC), will appear on the Monday, September 12, episode of The Doctors. The television program's topic is about the feelings of guilt that parents often have when their child is affected by a genetic disease.
For more details about The Doctors, visit
www.thedoctorstv.com
.
[Aug 29, 2011 mem]
Vote for Race for Adam
Song and Video Contest to Award $1000 to Winner
|
| Adam Recke (NPC) and Family |
Salisbury High School (Allentown, Pennsylvania) students Casey Creveling and Alan Mendez wrote a song and entered it in a contest to win $1,000 for the charity of their choice. They chose the Race for Adam Foundation, and their video is now one of the finalists! The song is beautiful and the video is awesome!
To view the video and cast your vote for Race for Adam, please visit: http://www.1gforgood.com Voting ends September 1st.
[Aug 25, 2011 mem]
Richardson Family Spends Their Summer Raising Funds and Awareness
in Memory of Ryan
|
Kim LeBlanc of New Iberia, Louisiana (second from left) was the winner of the motorcycle raffled off to raise money for the NNPDf in memory of Ryan Richardson (NPC) (5/27/00 - 10/18/05). Left to right are: Brian Hope, who built and donated the cycle, LeBlanc,Charlotte Maturin, and Ryan's mom, Sherry Richardson. |
The family of little Ryan Richardson (NPC) has been spending their summer raising awareness and funding for NPC research. In addition to the motorcycle raffle to benefit NNPDF (see above), they sponsored a poker run on August 6, intending to split the proceeds between Fischer House (which serves wounded soldiers), and the NNPDF. In light of this weekend's tragic news of the loss of 22 U.S. Navy SEALs over Afghanistan, the organizers decided to donate everything raised at the poker run to support the Fischer House. This announcement was met with hearty applause from those in attendance at the event.
The NNPDF's recent Family Support and Medical Conference was held in Norfolk, Virginia, home of the country's largest naval base. Norfolk opened its arms and welcomed the NNPDF family with extraordinary warmth and care. News reports have stated the Navy SEALs lost this past weekend were based out of Norfolk, and the members of the NNPDF extend their deepest sympathy to the families and friends of these brave men and women who gave their lives in service of their country.
[Aug 8, 2011 mem]
|
|
2011 Scientific Conference on NPC
|
|
The NNPDF Board was represented by Karen Quandt and Nicole Yanjanin, and the NNPDF Scientific Advisory Board was represented by Drs. Ory, Porter, Liscum, Pentchev, Sturley and Vance. The NNPDF-sponsored research fellows, Dr. Fabrizio Vacca and Dr. Nick Cianciola, presented their research projects to the group. The summary of the Scientific Conference was written by Dr. Pam Tamez and Dr. Kasturi Haldar from the Center for Rare and Neglected Diseases at the University of Notre Dame. [July 1, 2011 mem] |
|
Potential use of HDAC (histone deacetylation) inhibition as a treatment of NP-C disease. |
|
Two independent studies suggest a new pathway for intervention in NP-C disease that is FDA approved for treatment of other diseases. Here, senior authors of these papers, Dr. Sturley (long-time member of the NNPD's Scientific Advisory Board) and Dr. Fred Maxfield, describe their findings and optimistically but cautiously describe the potential of this strategy as a therapy. The modification of proteins after they are synthesized is a common and critical regulatory aspect of many cellular processes. Acetylation of proteins such as histones, changes their net charge from positive to neutral or negative. This reduces the ability of the histone to associate with DNA and thus changes the expression of numerous genes. The removal of acetylation (i.e. histone deacetylation, HDAC), reverses this effect. Treatment of human cells derived from NP-C patients, with HDAC inhibitors markedly improves cholesterol (1, 2) and sphingolipid (2) abnormalities of these cells. These observations were made with newer HDAC inhibitors that can be used at concentrations 1000-fold lower than that suggested for valproate, which reportedly was ineffective in some NP-C patients. One HDAC inhibitor is currently FDA-approved for treatment of cancer. Several others are in clinical trials for cancer and other diseases, including neurodegenerative conditions such as Huntington’s disease and ALS. Because of the existing safety testing and evidence of entry into the brain, there is the potential to enter into the clinic with these leads relatively quickly. However, several critical issues still need to be addressed. For example, it appears that the mechanism may be related to increased expression of the NPC1 protein (1). Consequently, it is not yet known which mutations (i.e. which patients) will respond effectively to HDACi treatment. Most importantly we need to determine if these compounds affect the function of the brain in NP-C patients or animals. Studies to address these issues are in progress.
1. Pipalia NH, et al. (2011) Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts. Proc Natl Acad Sci U S A 108(14):5620-5625.
2. Munkacsi AB, et al. (2011) An “Exacerbate-reverse” Strategy in Yeast Identifies Histone Deacetylase Inhibition as a Correction for Cholesterol and Sphingolipid Transport Defects in Human Niemann-Pick Type C Disease. J. Biol. Chem. 286. Abstract [July 1, 2011 mem] |
Wall Street Journal Health Blog Article:
|
In an article by Amy Dockser Marcus, the Wall Street Journal's Health Blog reported on a paper recently published in the Journal of Neuroscience on the use of cyclodextrin to treat NPC in mice. The paper's authors, led by Dr. John M. Dietschy of the University of Texas Southwestern Medical School, report that the treatment not only kept the mice alive, but prevented the cognitive decline of NPC.
“It will be a very influential paper in the field,” scientist Daniel Ory [Chair of the NNPDF's Scientific Advisory Board] tells the Health Blog. Ory ought to know: he is the principal investigator on an NIH grant focused on getting cyclodextrin from the lab into NPC patients. He’s also working closely with NIH’s Therapeutics for Rare and Neglected Diseases program, which selected NPC and cyclodextrin as one of its pilot projects to attempt to repurpose drugs for use in rare diseases.
The NNPDF hosted a conference call on May 2 which addressed plans for an upcoming clinical trial using cyclodextrin in NPC patients. In addition to Dr. Ory, the conference call included information about the clinical trial from Dr. Forbes "Denny" Porter of the National Institutes of Health. Text of the conference call (pdf) .
WSJ Health Blog: Results in Mice May Help Shape Clinical Trial for Children with Rare Fatal Disease
[June 23, 2011 mem]
Kareem Ghadban (NPB) Plans Trip to Arctic with Canadian Organization of Rare Diseases (CORD)
Jonathan Sher posted this article in the London (Canada) Free Press about Kareem Ghadban, his diagnosis with Niemann-Pick Disease Type B, and his upcoming trip to the Arctic to raise awareness and funding for Niemann-Pick Disease.
Boy's courage, fight show in Arctic journey (June 10, 2011)
[June 23, 2011 mem]
Mother of NPD Type A/B Baby Publishes Memoir |
Valerie Montgomery of California recently published a memoir of her family's journey through Niemann-Pick Disease, as it affected and then took the life of her daughter, Caileen (NPA/B).
The book is available through iUniverse for $9.95. They Took an Oath to Do No Harm
[June 24, 2011 mem]
NPD Research News
|
Here are several updates regarding Niemann-Pick Disease research:
Sandra Cowie, OT, Director-at-Large for the NNPDF, attended the 2011 WORLD Symposium in February. She reports that there were five sessions dealing with Niemann-Pick Disease (four on NPC and one on ASMD), and a poster presentations display area. Sandra wrote this report to share the information and updates from the conference.
Ian Williams, Ph.D., attended the renowned Gordon Research Conference and filed this report . Dr. Williams is one of our NNPDF-funded postdoctoral fellows working on his research project titled Neurobiology of Purkinje Cells in NPC1 .
We also now have available a text document of the NPC updates presented during the May 2nd conference call/Webinar. Anyone who was not able to participate in the meeting, and those who would like to review the information presented, can click here for a PDF of the document. A recording of the meeting is also available for a limited time. Visit our special page for instructions to access the recording via telephone or computer.
Thank you, Sandy and Drs. Williams, Ory, Porter, Patterson and Austin, for participating in these important updates for our families!
[May 18, 2010 mem]
Spring and Summer Fundraising
Support NNPDF Research and Family Services Programs
|
Motorcycle being raffled off in Florida to raise money in
memory of Ryan Richardson (NPC) (5/27/00 - 10/18/05) |
The busy spring and summer fundraising and awareness-raising season is now in full swing! Warmer weather is peak time for outdoor events, festivals, community gatherings, and other opportunities to advance the mission and vision of the CCNNPDF on behalf of all affected by NPD.
Check out our Upcoming Events and Recent Events pages for a taste of all the great activities in support of Niemann-Pick Disease Research and CCNNPDF/NNPDF Family Services programs. As just one example, the photo above shows the motorcycle being taken around to various events in Florida, to be raffled off to raise funds in memory of little Ryan Richardson (NPC).
If you've never done any fundraising, or if it's been a few years since you held an event, now is the time! Check out the postdoctoral fellowship research projects the CCNNPDF/NNPDF is currently supporting for some motivation, and let us help you get started in your community.
We can provide brochures ( ASMD Type A/B brochures or Type C brochures , all updated in 2010) and newsletters for your fundraising needs.
The ever-popular periwinkle PERSEVERE wristbands are an easy way to raise funds and awareness. The wristbands are individually packaged with a message of appreciation for supporting our Quest for a Cure. The NNPDF Web address is on the back of the wristband and on the insert card, as well. Wristbands are $1.00 each and can be sold with minimal effort at any event, or at the checkout counters of supportive local businesses.
One of our member families makes colorful, eye-catching vinyl banners to bring attention to your booth or event. And we can help you with ideas, best practices, press releases, or with requests for official proclamations. Check out our updated Fundraising Guide and Guide to Getting Media Coverage for guidance, or contact us at the NNPDF Central Office for assistance. Please complete and return this form to help us help you with your event or project.
Thank You to all the families, extended families and community members who support the important work of the CCNNPDF/NNPDF! Please let us know how we can be of assistance.
[May 16, 2011 mem]
Frankie Valli to Appear on the Today Show May 18
May 20 Concert will Benefit NPC Research
Frankie Valli is expected to appear on the NBC Today show on Wednesday, May 18, during the 8:30 segment, to promote a May 20th event to benefit NPC research.
The event on May 20, featuring an all-star team, will raise awareness and funds in support of the Marella family of Greenwich, Connecticut, and their foundation, Dana's Angels. Two of Phil and Andrea Marella's children are affected by Niemann-Pick Disease Type C. Frankie Valli & the Four Seasons will perform in concert on the 20th, emceed by Kathie Lee and Frank Gifford, with special guest Regis Philbin.
Tune in to the Today show May 18 for more details, or visit www.danasangels.org .
[May 17, 2011 mem]
Tehyez Brandi Minde
6/9/08 - 4/27/11
|
|
Tehyez Brandi Minde
(NPA) |
It is with very deep sadness that we pass along word of the death of baby Tehyez Brandi Minde due to the effects of Niemann-Pick Disease Type A. Not quite 3 years old, Tehyez was the beloved daughter of Tessa Minde and Warren Redcrow of Hobbema, Alberta. In addition to her parents, Tehyez is survived by her big sister, Tamia. Tehyez passed surrounded by many members of her family.
Our most sincere sympathy to the Minde-Redcrow family in their loss. Obituary for Tehyez Minde
[Apr 29, 2011 mem]
NIH's Work with Niemann-Pick Disease Type C (NPC)
|
| Instructions for joining the conference call/Webinar Instructions as printable PDF |
This Monday, May 2, 2011, the NNPDF will host a conference call/Webinar with key constituents and researchers, for all interested parties in the NPC community to learn more about the work being done at the NIH. The call will begin at 4:00 pm Central Time (5:00 pm Eastern; 2:00 pm Pacific).
Presenters/NPC experts expected to participate in the call include: Dr. Forbes "Denny" Porter of NIH, Dr. Daniel Ory of Washington University, Dr. Christopher P. Austin of TRND, and Dr. Marc Patterson of Mayo Clinic.
Agenda topics for the conference call are expected to include: NPC Observational Study at the NIH; development of NPC biomarkers; the NAC trial; use of a blood test for NPC diagnosis; and the current effort at TRND/NIH toward developing plans for a cyclodextrin trial at NIH.
For more details, visit this page .
[Apr 28, 2011 mem]
Save the Date!
|
Watch your mailbox! Foundation members will be receiving a "Save the Date" card for the 2011 NNPDF Family Support and Medical Conference. The conference is being planned for
Norfolk, Virginia
, overlooking the harbor, at the
Sheraton Norfolk Waterside Hotel
, from Thursday, July 28 through Sunday, July 31.
Special Family Conference hotel rates include a choice of rooms: City View room for $89 per night ($101.57 with 13% taxes and $1.00 fee); or Harbor View room for $109 per night ($124.17 with 13% taxes and $1.00 fee).
When making your reservation, be sure to ask for the special NNPDF Family Conference block rate. Special conference rates include apron dates for those who wish to extend their stay in Norfolk. Special rates at the Sheraton are available from Sunday, July 24 - Tuesday, August 2 (departure on Wednesday, August 3), subject to availability.
Make your hotel reservations online today
or call: Sheraton Central Reservations Desk (Toll Free): 888-627-8042 or the Sheraton Norfolk Waterside Hotel direct number: 757-622-6664. The deadline for reservations at the special rates is Monday, June 27th. Payment for one night's lodging is required to hold your room.
Visit our special
Family Conference page
for more conference details. Registration packets will be mailed out in May. In the meantime, please
contact the NNPDF
if you have any questions or if we can be of any assistance as you make plans to attend the NNPDF Family Conference.
[Apr 18, 2011 mem]
NNPDF Research Updates
|
The NNPDF is very pleased to currently be providing support to four postdoctoral research fellows, all conducting studies on various aspects of Niemann-Pick Disease. The four fellows, Dr. Fabrizio Vacca, Dr. Ian Williams, Dr. Nicholas Cianciola, and Dr. Dorothea Maetzel, recently sent us updates on their ongoing research projects. The NNPDF extends its great appreciation to these scientists as they work to unlock the mysteries of NPD, and to hasten the journey to effective treatments and a cure.
Please visit the NNPDF’s Fellowships Funded page to read the latest reports from our postdoctoral fellows.
Research funded by the NNPDF is made possible largely due to the diligent efforts of our member families and their extended support networks hosting local community events. The NNPDF is truly grateful for this support! Thank you for your help as we PERSEVERE in our Quest for a Cure!
[Apr 2011 mem]
NIH to Develop Clinical Trial Utilizing Cyclodextrin
|
The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C patients. The clinical trial is in the planning phase and many criteria must be met and numerous approvals granted before the trial can take place. Dr. Porter, a Senior Investigator at the NIH, and Dr. Ory, NNPDF Scientific Advisory Board Chair, are working collaboratively to bring this trial to our NPC patient community.
In early May, the NNPDF will host a conference call with key constituents and researchers, for all interested parties in the NPC community to learn more about the work being done at the NIH. This conference call will include information pertaining to the development of plans for a cyclodextrin trial.
As a date and details for the conference call are confirmed, the NNPDF will work to update and inform our NPC family membership with the call-in information, agenda outlines and topics of discussion. We anticipate that after the presentation, the conference call format will allow participants to submit questions to the speakers/researchers.
Further updates on the clinical trial will be presented at the NNPDF Family Support and Medical Conference in Norfolk, Virginia, July 28th - 31st. Dr. Porter and Dr. Ory will answer questions pertaining to the clinical trial and will report up-to-date information about the trial at the conference.
[Apr 7, 2011 mem]
Paper Published on Study of Histone Deacetylase Inhibitor for Use in NPC
University of Notre Dame Press Release Claims Breakthrough
A paper claiming a breakthrough in the fight against Niemann-Pick Disease Type C (NPC) appeared in a recent issue of Proceedings of the National Academy of Sciences (PNAS). The paper, coauthored by Olaf Wiest and Paul Helquist of the University of Notre Dame and Frederick Maxfield of Cornell University, says the use of an unspecified histone deacetylase inhibitor corrects the damage done by the genetic disorder NPC and allowed once-diseased cells to function normally.
To help understand the press release issued by Notre Dame on March 21, the NNPDF consulted three respected experts in Niemann-Pick Disease Type C: Dr. Dan Ory of Washington University, Dr. Marc Patterson of Mayo Clinic, and Dr. Denny Porter of the National Institutes of Health. These experts caution against jumping to premature conclusions.
For more details, including links to the press release and the article abstract, along with statements from the experts consulted by the NNPDF, please visit our Latest Research page.
[Apr 5, 2011 mem]
9th Annual Alex and Laura Vaughan Memorial Golf Tournament
Stone Tree Golf Course, Owen Sound, Ontario
Saturday, June 25, 2011
|
Alex Vaughan (NPC)
|
Laura Vaughan (NPC)
1/16/95 - 11/8/01 |
The 9th Annual Alex and Laura Vaughan Memorial Golf Tournament is being planned for Saturday, June 25. The tournament is an annual event held in memory of the children of Allan and Tammy Vaughan of Durham, Ontario. Tammy is the Chair of the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF), and is also a member of the NNPDF Board of Directors.
For more details about this event which provides major support for CCNNPDF's programs of research and family services, please visit our Upcoming Events page .
[Apr 1, 2011 mem]
Webinar with NIH Director Dr. Francis Collins about the Proposed
National Center for Advancing Translational Sciences (NCATS)
| NIH Director, Dr. Francis Collins |
NIH Director Dr. Francis Collins was the featured guest of a recent Webinar designed to separate fact from fiction about the proposed National Center for Advancing Translational Sciences. Over 600 Webinar participants included members of patient advocacy groups, medical research foundations and other stakeholders in the medical research system.
Niemann-Pick Disease Type C (NPC) was featured as an example of a rare disease that could benefit from NCATS.
The hour-long Webinar is archived and available for viewing here . It is also available via a link at the Web site of FasterCures (The Center for Accelerating Medical Solutions) at http://www.fastercures.org/train/tools/webs.html .
Glossary of terms and acronyms used during the Webinar Selected slides from the Webinar
[Mar 17, 2011 mem]
2011 Peter G. Pentchev Postdoctoral Fellowships
|
|
The NNPDF invites applications for the 2011 Peter G. Pentchev Postdoctoral Fellowships. These fellowships provide funding for research projects studying the biology of Niemann-Pick Type C (NPC) disease.
M.D., Ph.D., and D.V.M. postdoctoral fellows are eligible to apply for funding to improve understanding of the biology and pathogenesis of NPC. Preference will be given to research projects developing new therapies for NPC, and identifying biomarkers of disease activity for diagnosis and clinical trials.
The fellowships provide support of $50,000 per annum for two years and may be renewable based on performance. Applications are due May 1, 2011.
Complete details Printable flyer/poster
[Mar 9, 2011 mem]
Michelle Rose Trombley
11/1/86 - 3/1/11
|
Michelle Trombley
(NPC) |
With great sadness, we pass along word that Michelle Trombley, age 24, passed away from NPC on Tuesday, March 1. Michelle was the beloved daughter of Nancy Trombley and Mike and Terri Trombley-Sachs, and sister of Renee.
The visitation will be Saturday, March 5, at 9:30 a.m., followed by the funeral at 10:30. Both will be at Corpus Christi Church, 2131 Fairview, Roseville, Minnesota.
The family asks that in lieu of flowers, donations may be made to the NNPDF in Michelle's memory.
StarTribune.com obituary
Our deepest sympathy to all Michelle's family and friends in this time of sorrow.
[Mar 4, 2011 mem]
RRD International Selected as Development Partner for NIH TRND Program
Focus on NPC1
RRD International, a strategy-driven biotech and pharmaceutical product development company, has entered into a partnership with the National Institutes of Health (NIH) Therapeutics for Rare and Neglected Diseases (TRND) program as a regulatory support and development partner.
The RRD and TRND partnership will focus on two rare disease drug development projects: Niemann-Pick Type C1 Disease (NPC1), and Hereditary Inclusion Body Myopathy (HIBM), a rare adult-onset neuromuscular disorder.
As a new program, TRND is intended to advance preclinical and early clinical development of new drugs for rare and neglected diseases. The program is designed to speed development of new drugs that might otherwise fall by the wayside.
For more information, read the press release about RRD - TRND partnership .
[Mar 2, 2011 mem]
19th Annual NNPDF Family Support and Medical Conference
|
The 19th Annual NNPDF Family Support and Medical Conference will be held in Norfolk, Virginia, from Thursday, July 28 through Sunday, July 31. (Hotel specifics will be announced once contracts are completed. At that time, families will be able to reserve rooms at the special conference rate.)
Nestled where the Chesapeake Bay meets the Atlantic Ocean, Norfolk offers families historic attractions, world-class museums, lush parks, beachfront attractions, great shopping, and much more. Check out www.visitnorfolktoday.com for tourism information.
The NNPDF Family Conference offers families the unmatched opportunity to hear the latest news and information directly from the top experts in Niemann-Pick Disease, and to network with other families who share similar challenges.
More conference details will be posted as they develop. For now, mark your calendar and start planning your trip to Norfolk and the NNPDF Family Conference!
[March 1, 2011 mem]
Jimmy "Lee" King III
1/ 13/91 - 2/26/11
|
Lee King
(NPC) |
Jimmy "Lee" King, age 20, passed away from the effects of Niemann-Pick Disease Type C on Saturday, February 26. Lee died at home, surrounded by his family -- parents Jimmy and Melissa King, and his younger brothers, Andrew and Tyler.
Lee fought a long and heroic battle against NPC, and his family supported him on this journey with their strength, courage and neverending love.
A memorial gathering was held Sunday, February 27, at Calvary Baptist Church in Eufaula, Alabama. The funeral service will be today, Monday, February 28, at the Chapman Funeral Home.
Jimmy, Melissa, Andrew and Tyler -- we are all holding you near and dear to our hearts during this very sad time.
[Feb 28, 2011 mem]
World Rare Disease Day is Monday, February 28!
|
Reminder! - - this coming Monday, February 28, is World Rare Disease Day -- a day to honor and show support for all who are affected by a rare disease such as Niemann-Pick Disease. Did you know that over 30 million Americans are affected by a rare disease? In the U.S., a rare disease is defined as any disease or disorder which affects fewer than 200,000 people at any given time.
Easy ways to show your support for World Rare Disease Day include wearing jeans to school or work, wearing and distributing PERSEVERE wristbands , or making a donation to support research into Niemann-Pick Disease.
Please visit our special World Rare Disease Day page and read this message from the National Organization of Rare Diseases (NORD) to learn more about how you can participate in this worldwide observance. Thank you!
[Feb 25, 2011 mem]
Niemann-Pick Disease Type C Research Updates from Dr. Dan Ory
Dr. Daniel Ory, M.D., Washington University School of Medicine, and chair of the NNPDF’s Scientific Advisory Board (SAB), gave updates on the latest research into Niemann-Pick Disease Type C at the recent NNPDF annual board meeting.
Dr. Ory reported that this is an exciting time for research, and he is optimistic about the future with strong research projects working to unlock the mysteries of NPD. Dr. Ory thanked the NNPDF for its continuing support of the research which is so essential to finding effective treatments for NPD.
Read the summary of Dr. Ory’s updates . Visit the Latest Research page for other research news.
[Feb 25, 2011 mem]
Visit Spain's Niemann-Pick Disease Web Site Today, Thursday, February 17!
|
Please take a moment right now to visit Spain's NPC organization's Web site. Actelion Pharmaceuticals (the maker of Zavesca/miglustat) will donate money to the nonprofit Spanish NPC foundation for each visit to the site today only. Spain's time zone is several hours ahead of the U.S., so please make your visit today before 6 pm Eastern, 5 pm Central, and 3 pm Pacific Time.
Here is the link: http://www.niemannpickc.com/ When the page opens, click the little orange oval at the bottom right.
Thank you for your support of those who suffer from Niemann-Pick Disease worldwide!
[Feb 17, 2011 mem]
|
Sale of Genzyme to Sanofi-Aventis |
Update from Jamie Manganello, Director, Patient Advocacy, at Genzyme:
Genzyme and sanofi-aventis have entered into an agreement under which sanofi-aventis will acquire Genzyme. Sanofi-aventis is a global, diversified healthcare company, headquartered in Paris, France and a leader in diabetes, oncology, innovative medicines, vaccines, consumer health care products and animal health. With this transaction, Genzyme will move into a new phase of our development, continuing our patient-focuse mission and developing treatments that change the lives of people with rare diseases.
Sanofi-aventis and Genzyme have a shared vision for our future together and believe we will emerge even better prepared to serve you. The plan is for Genzyme to become a division of sanofi-aventis and global center of excellence for rare diseases. We will continue to serve the rare genetic disease community as we have done for the past 30 years, and I believe that sanofi-aventis will bring important new perspectives and new resources to this work.
Until the transaction closes, which is expected early in the second quarter of this year, both companies remain independent. Every aspect of how we work and our commitment to you remain the same.
In partnership with you, Genzyme’s mission has always begun and ended with the patient. Sanofi-aventis is making a significant investment in Genzyme because they value what we do, and our mission will remain unchanged.
As we work through the details, we will share our progress with you. Our future is dependent upon the support and involvement of patients and the treatment community, and we are eager to hear your thoughts and feedback as well.
Thank you for your continued support of Genzyme, and we look forward to updating you soon on our progress and path forward.
Press release from Sanofi-Aventis and Genzyme
[Feb 16, 2011 mem]
Show Your Support for Those Affected by Rare Diseases
|
Here are a few easy ways to show your support:
•Share the Facebook event page from the
NNPDF Awareness Facebook Group
page highlighting Feb. 28th, 2011, as WORLD Rare Disease Day.
•Sign up for the RSS feed for the
NNPDF blog
("Subscribe via Feedburner") to receive an email notice when the blog is updated.
•Use "
Good Search
" as your internet search engine. Each search conducted triggers a one cent donation to the NNPDF -- all those pennies added up to $250 last year!
•Add
eBay Giving Works (Mission Fish)
to your eBay seller's site and make a donation to the NNPDF for each sale made - you set the percentage.
•Support the 10th Anniversary of Spain's NPD Foundation (
Fundacion Niemann Pick de Espana
) by visiting their Web site on February 17th, as part of a fundraising effort based on the number of site visitors.
•Wear jeans to school or work on Monday, February 28th, in support of the Global Genes Project.
•Share your rare disease experience with others. Post links to the
NNPDF site
and the
NORD site
on your Facebook page to raise awareness of the plight of those affected by rare diseases.
•Make a meaningful impact by writing letters to your congressional representatives asking them to join the
Rare and Neglected Diseases Congressional Caucus
. The Caucus will focus attention on rare diseases and related needs such as research.
•Distribute PERSEVERE wristbands to your family and friends to wear in a sign of solidarity in the battle against Niemann-Pick Disease and all rare diseases.
Order form
Please visit our
World Rare Disease page
for more details and ways to show your support of those affected by rare diseases.
[Feb 14, 2011 mem]
2011 NNPDF Annual Board Meeting
Driving Forward in Our Quest for a Cure!
|
What happens in Milwaukee, stays in Milwaukee!
"Birthday Girls" Susan Green, Sandra Cowie and Karen Quandt |
Members of the NNPDF's Board of Directors braved blizzards and other inclement weather to travel to Milwaukee for the foundation's 2011 Annual Meeting February 4 - 6. The weekend was jam-packed with meetings of the board and committees, making the most of the opportunity to meet face-to-face. Results of the work of 2010 were discussed and evaluated, and plans were laid for a very busy year ahead.
Though lots of business was conducted over the course of the three days, a few recent birthdays were celebrated over dinner. Susan Green, Sandra Cowie and Karen Quandt were honored with sombreros and slices of cake. Feliz cumpleanos!
[Feb 10, 2011 mem]
Genzyme Completes Sale of Diagnostics Business to Sekisui Chemical Co.
Agrees to Sell Pharmaceuticals Business to International Chemical Investors Group
Genzyme announced that it has completed the sale of its diagnostic products business to Sekisui Chemical Co., Ltd.
Sekisui purchased substantially all of the assets of the business, including diagnostic product lines and technologies. Genzyme’s approximately 575 employees were offered similar positions with Sekisui, which plans to maintain operations in each of the business’s current locations. In connection with the sale, Sekisui also entered into a supply agreement to provide Genzyme with certain enzymes needed for the production of Cerezyme® (imiglucerase for injection).
Genzyme also announced that it has entered into a purchase agreement under which an affiliate of International Chemical Investors Group (ICIG) will acquire Genzyme’s pharmaceutical intermediates business.
For the complete press release, click here , or visit businesswire.com .
[Feb 9, 2011 mem]
Gordon Research Conference on Lysosomal Storage Diseases
|
Today marks the conclusion of the first-ever Gordon Research Conference on lysosomal storage diseases. This extremely prestigious conference of the scientific community featured topics including the basic science of lysosomal biology and function, relationships of lysosomal diseases to other neurological diseases, pathogenic cascades, biomarkers, recent advances in therapy, and clinical trials and design.
Niemann-Pick Disease is one of over 50 known lysosomal storage diseases. The NNPDF is pleased to have been able to sponsor attendance at the conference, helping to ensure that promising research fellows are able to participate and share in the knowledge bank at this world-renowned gathering.
The Gordon Research Conferences (GRC) is a non-profit organization managed by and for the benefit of the scientific community, providing an international forum for the presentation and discussion of frontier research in the biological, chemical, and physical sciences, and their related technologies.
[Jan 28, 2011 mem]
Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
A note from Genzyme - January 2011:
Genzyme is continuing efforts to develop recombinant human acid sphingomyelinase (rhASM) for the potential treatment of the non-neurological manifestations of acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). After completing the Phase 1 clinical trial in 2009, we engaged regulatory authorities in discussion about plans for a Phase 2 clinical trial and conducted additional preclinical research in 2010. This regulatory dialogue is ongoing. We remain committed to the development of a therapy for ASMD and will keep the community informed once our regulatory discussions are complete and we can confirm a start date for the Phase 2 clinical trial for Niemann-Pick B patients.
We are pleased to note that an abstract from the Phase 1 clinical trial was selected for a podium presentation by Dr. Margaret McGovern at the 7th annual lysosomal disease network's WORLD conference, to be held in Las Vegas, February 16-18, 2011.
Genzyme Corporation
500 Kendall Street
Cambridge, MA 02142
www.genzyme.com
(To read previous postings about these clinical trials, please visit our Enzyme Replacement Therapy page .)
[Jan 27, 2011 mem]
New Test Promises to Find Fatal Diseases Before Conception
Test Could Determine if Parents Are Carriers for Genetic Diseases
A new DNA test has been developed to identify carriers of 580 of the most severe inherited childhood diseases. Announced in the journal Science in Translational Medicine , the test uses genetic sequencing to identify recessive mutations.
The new test could be used before a couple decides to become parents. Currently, preconception testing is recommended for just a few diseases, such as Tay-Sachs and cystic fibrosis, and can cost as much as $2,000.
According to abcnews.go.com , this new carrier screening may cost less than $400, and may become available in the near future. Clinical work will be done at Children's Mercy Hospital in Kansas City, Missouri. The test will likely be a blood test and later a simple swab of the cheek. Egg and sperm banks may be the first industry to adopt the testing to screen potential donors.
For more information, see the ABC News article here .
[Jan 25, 2011 mem]
Guy Michael Borsetti Heikila
4/8/79 - 1/13/11
| Guy Michael Borsetti Heikila (NPC) |
We are extremely sad to report that Guy Michael Borsetti Heikila, age 31, of Milford, New Hampshire, passed away January 13, due to the effects of Niemann-Pick Disease Type C (NPC).
Survivors include his parents, Steven and Marie J. (Corriere) Heikila of Nashua, NH, and Michael and Jane Borsetti of Sebago, ME. Also, his brother, Gunnar Borsetti; four sisters -- Moriah Borsetti, and Stephanie, Lauren and Rachel Heikila; maternal grandmother, Ida Corriere; paternal grandparents, Howard and Ann Bray; one niece, Sophia Savard; and several aunts, uncles and cousins.
The funeral will be held at Christian Bible Church, 205 Manchester St., Nashua, NH, on Tuesday, January 18, 2011, at 11:00 AM. The family suggests, in lieu of flowers, that donations may be made in Guy's loving memory to: The National Niemann-Pick Disease Foundation (NNPDF), P.O. Box 310, Fort Atkinson, WI 53538, or online at www.nnpdf.org .
The Davis Funeral Home , Nashua, is assisting the family. Visit the funeral home's Web site, click "Obituaries," and then search "heikila" to read Guy's complete obituary and leave a message for the family. The obituary as it appeared on the Boston Globe's Web site, boston.com, may be viewed here .
[Jan 18, 2011 mem]
Rare Disease Day
|
The National Organization for Rare Diseases (NORD) will celebrate Rare Disease Day on Monday, February 28.
This year’s worldwide theme is “Rare but Equal” which will highlight “Rare Diseases and Health Inequalities.” You can read more about this theme on the global Rare Disease Day website .
Visit NORD's Rare Disease Day site at http://rarediseaseday.us for ways you can participate and help raise awareness of rare diseases.
[Jan 17, 2011 mem]
Adam James Edward Reimer
12/30/86 - 1/11/11
| Adam Reimer (NPC) |
Adam is survived by his parents, Don and Maggie Reimer of Cultus Lake, British Columbia, his brother, Ryan (Margo) Dear, and his sister, Erin Reimer. After a long and courageous battle with NPC, surrounded by his family, his best friend Ian Fournier, Ian's fiance Felicia, and his other "big brother" Steve Hiscoe, Adam passed away in the early hours of January 11, 2011.
A 2005 graduate of Sardis Senior Secondary School, Adam played hockey in the Chilliwack Minor Hockey league and hockey was his life. Everyone who knew Adam realized that they'd better bone up on the Canucks before they went to see him. Adam loved to dance and had a wicked sense of humour. His smile would light up the room.
We extend our heartfelt sympathy to Adam's family and many friends in their loss.
In lieu of flowers, memorial donations may be made to the Canadian Chapter of the National Niemann Pick Disease Foundation (CCNNPDF) .
[Jan 13, 2011 mem]
Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine
|
Fishing for Charities Team with Raiden Linkous (NPC)
|
The Online Outdoorsmen magazine, Online Fishermen, recently published a story about Fishing for Charities, a fishing tournament trail which raises funds for charitable causes, including the NNPDF. Dwayne Linkous, father of 14-year-old Raiden Linkous (NPC), coordinates the tournament trail with the help of some good friends and fishing buddies.
Check out the story on the Online Fishermen (scroll to pages 46-47) , or read it here (PDF) .
The NNPDF will be the beneficiary of funds raised on May 28, 2011, at Claytor Lake, Virginia, in honor of Raiden Linkous (NPC).
For full details including registration information, rules, etc., please visit
www.fishingforcharities.net
.
[Jan 12, 2011 mem]
"Here for You Always"
Video Project -- Call for Photos
Singer-songwriter Rachel Taylor, cousin of NNPDF member Lorna Tyrrell (mom of Naomi, NPC), has a song on her new CD titled, "Here for You Always." The song's message is so appropriate for our loved ones with Niemann-Pick Disease, that we decided to create a video/slideshow montage of the song set to photos of our NNPDF members, and we are looking for your help!
For this project, we are gathering a few choice photos of children and adults with Niemann-Pick Disease together with their parents, grandparents, siblings, friends, classmates, pets, etc., to illustrate the song's lyrics of love, support, and nurturing relationships.
Please visit our special
"Here for You Always" page
for more details, including the song's lyrics, links to hear the song and to see it performed by Rachel and her band, and samples of the types of photos we are envisioning for this project.
Please send us your photo(s) by Valentine's Day, Monday, February 14.
[Jan 4, 2011 mem]
19th Annual NNPDF Family Support and Medical Conference
Summer 2011
It may only be January, but it's never too soon to start thinking about summer vacation! Pair that thought with the opportunity to meet with experts in Niemann-Pick Disease and other families facing similar challenges, and you have the NNPDF's Annual Family Support and Medical Conference! This year's Family Conference is in the planning stages, with our sights set on the beautiful state of Virginia (U.S.)!
Virginia, the gateway to the south, offers dramatic Blue Ridge and Appalachian range vistas, 5,000 miles of shoreline, and historical sites galore. You'll also want to explore Virginia's theme parks and zoos, museums and arts centers, gardens and wineries. As the popular slogan goes, "Virginia is for Lovers," but Virginia is also for golfers, hikers, fishermen, gourmands, birdwatchers, equestrians, history buffs, beachcombers, shoppers, and most certainly, families!
Mark your calendar now for late July - early August and take a few minutes to browse www.virginia.org for a foretaste of all this exciting destination has to offer. Specific dates and the conference hotel site will be announced soon -- stay tuned to this page for more details as they develop.
[Jan 3, 2011 mem]
Season's Greetings! |
|
As 2010 draws to a close, we at the Canadian Chapter of the National Niemann-Pick Disease Foundation and the National Niemann-Pick Disease Foundation (U.S.) give thanks for all who have supported our foundation's vital mission.
Thank you for being part of our efforts to offer support to families and to further research into treatments and a cure for Niemann-Pick Disease! Through your generosity we have been able to offer the gift of hope for all those affected by Niemann-Pick Disease.
With sincere gratitude, we send our best wishes to you and your family for a wonderful holiday season and a happy, healthy New Year filled with peace, joy and love!
[Dec 23, 2010 mem]
National Organization of Rare Diseases Asks for Survey Participation
The National Organization of Rare Diseases (NORD) invites members of the NNPDF to participate in an important project to raise awareness of rare diseases and the challenges encountered by patients and their families.
NORD is partnering with the Pew Research Center to conduct an informal study of how people with rare diseases obtain and share information about their diseases and available resources. Since the Internet has particular implications for people with rare diseases, Pew and NORD feel it is important to document ways in which the Internet is used by this particular population.
Please consider completing the short survey to ensure that as many rare disease organizations as possible are represented in this survey. It takes just a few minutes to complete the survey, and it is not necessary to answer every question. Also, responses will be partly anecdotal: Respondents will be invited to elaborate on their own experiences if they choose to do so.
The survey will be available for just three weeks, so it is important to submit your response as soon as possible. We appreciate your help in this project and its goal of raising awareness across our nation and around the world of rare diseases as an important public health concern.
Link to online survey: http://www.psra.com/nordsurvey.html
Your user name is: 1111
[Dec 9, 2010 mem]
Oxidative Stress in Niemann-Pick Disease Type C
Molecular Genetics and Metabolism recently published a new article titled, "Oxidative stress in Niemann-Pick disease, type C," from authors Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD.
For a summary of the article and a link, visit our Latest Research page , or click here to read the article in its entirety.
[Nov 19, 2010 mem]
Zavesca Receives Approval for Reimbursement in Ontario
Actelion Canada Pharmaceuticals Inc. announced recently that Zavesca® (miglustat) has been approved for reimbursement under the Ontario Public Drug Program. Reimbursement will be considered under the Exceptional Access Program, according to specific clinical criteria.
Read the full report here
or
here (PDF)
[Nov 15, 2010 mem]
Diagnosis of NPC May Soon be Done Via Blood Test
Niemann-Pick Disease Type C (NPC) may soon be diagnosed with a simple blood test, according to a report from the Washington University School of Medicine, St. Louis, Missouri, published recently in Science Translational Medicine.
Dr. Dan Ory of Washington University, and the chair of the NNPDF's Scientific Advisory Board (SAB), is one of the report's authors, along with Dr. Forbes "Denny" Porter of the National Institutes of Health (NIH) and on the NNPDF's SAB; and Nicole Yanjanin, R.N., NIH, on the NNPDF's Board of Directors; and others.
Visit Newswise for the complete story and video clip , which features Dr. Ory along with Nancy and Art Sullivan, parents of Karen Sullivan, who passed away from NPC in 2004, at the age of 33.
[Nov 4, 2010 mem]
Christmas Cards Offered by NPD Group (UK)
The NPD Group (UK) is offering for sale Christmas cards featuring holiday paintings by children. Click
this link
for an order form which also shows the adorable assortment of artwork.
[Nov 3, 2010 mem]
Ara Parseghian Medical Research Foundation Conference Overview and Abstracts
September 24 - 25, 2010
The Ara Parseghian Medical Research Foundation (APMRF) Conference was held in Tucson, Arizona, in late September, bringing together Niemann-Pick Disease Type C (NPC) researchers, physicians, parents and organizations.
Please visit our Latest Research page for links to the conference agenda; an overview of the conference by Suzanne R. Pfeffer of the Stanford University School of Medicine, Department of Biochemistry; the conference session abstracts with additional notes by NNPDF Board Chair Karen Quandt; and a link to the APMRF's Web site.
[Oct 15, 2010 mem]
2011 Wall Calendars - Proceeds Benefit NNPDF
Two Designs Now Available!
Get ready for 2011 with either of these beautiful wall calendars!
"Treasuring Each Day"
features playful puppies and sayings of inspiration and hope, while
"Love Always Hopes"
contains lovely scenic paintings and Biblical quotations. These very special wall calendars are dedicated to the children and families who struggle every day with the challenges of Niemann-Pick Disease (NPD).
Get a jump on your holiday shopping! Your purchase supports the NNPDF's program of research and important Family Support Services, as well! Order form
Your purchase of these calendars gives hope to families affected by NPD as funds are raised for essential research into treatments and a cure. Turning the page each month, we are reminded that we are in a race against time to find treatments and a cure for all children and adults with NPD.
Lorna Tyrrell, creator of the popular Persevere wear , created both calendars in honor of their seven-year-old daughter (who loves puppies and bunnies and all things cuddly!), Naomi (NPC). Please order calendars directly from the Tyrrells using this order form .
Thank you for your support of all those affected by Niemann-Pick Disease!
[Oct 15, 2010 mem]
Institute of Medicine Releases Report on Rare Diseases
The Institute of Medicine (IOM) recently released a report calling for implementing an integrated national strategy to promote rare diseases research and product development. The report, Rare Diseases and Orphan Products: Accelerating Research and Development, is the result of a two-year study commissioned by the National Institutes of Health (NIH) and the Food and Drug Administration (FDA).
The full text of the report is available here or on the IOM website .
[Oct 15, 2010 mem]
| Take the NPD 10 - 10 - 10 Challenge! |
Intriguing dates such as 10/10/10 don’t come around all that often, and it seems fitting to proactively observe this once-in-a-lifetime occasion, especially since it falls during October National Niemann-Pick Disease Awareness Month!
Participating in the Niemann-Pick Disease Challenge and showing support for the many families coping with NPD is one simple way you can mark the day by making a positive difference. With just a few minutes of your time, you can help raise awareness and funding for all whose lives are affected and cut short by Niemann-Pick Disease.
Our 10-10-10 Challenge is to get 300 people to share information about Niemann-Pick Disease with 10 other people, via email, Facebook, Twitter, or other means (even via the hospitable old-fashioned way, face-to-face!).
Spreading the word about this rare disease is key to raising the essential funding for research which will find the treatments and cure we all work fervently toward, and to providing important family services for those who rely on us. Please, will you help us meet our goal? Click here for six easy ways you can help us meet this October Awareness Month challenge!
One decidedly FUN way to participate in October Niemann-Pick Disease Awareness Month is to shop the Online Auction ! Bidding is now open! Bid high, bid often!
It's also not too late to donate items to the auction. Check out this page for more details, or contact the NNPDF Central Office .
As always, Thank You most sincerely for the continued love and support you give the families who deal with the challenges and heartbreak of Niemann-Pick Disease!
[Oct 1, 2010 mem]
FDA Grants Clearance for Experimental Intrathecal Administration of Cyclodextrin
The FDA has granted clearance of an Investigational New Drug (IND) application for administration of Hydroxypropyl Beta Cyclodextrin (cyclodextrin) into the central nervous systems of two patients with Niemann-Pick Disease Type C. The cyclodextrin will be given intrathecally (into the space under the arachnoid membrane of the brain or spinal cord), first via lumbar injection, and then into the brain’s ventricle system. Children’s Hospital & Research Center of Oakland, California, issued this press release .
The NNPDF notes the following regarding cyclodextrin:
- Cyclodextrin has shown promise as a potential therapeutic in animal trials. However, issues of toxicity have also arisen.
- The NNPDF is aware that cyclodextrin is being used on a single-patient Investigational New Drug (IND) basis in the U.S. and in Brazil.
- More research is needed to understand issues related to drug delivery, efficacy and safety.
- The NNPDF will keep the NPC community apprised of developments regarding cyclodextrin.
Amy Dockser Marcus published this related article in her Wall Street Journal Health Blog on September 23.
For more information about cyclodextrin, cyclodextrin's orphan drug designation, a glossary of terms, and links to the FDA, please visit our cyclodextrin page .
[Sept 30, 2010 mem]
Cassandra Phillipa Stallard
5/30/89 - 9/21/10
|
Cassandra Phillipa Stallard (NPC)
|
We are very sad to learn of the death of 21-year-old Cassie Stallard due to the effects of Niemann-Pick Disease Type C (NPC). According to Cassie's mom, Trish, Cassie died peacefully in her sleep after a day enjoyed strolling on the beach and a trip to a favorite coffee house.
All our sympathy to the Stallards and their extended family and friends in their loss.
[Sept 23, 2010 mem]
Online Auction Web Site is LIVE and Open for Business!
|
The NNPDF's Niemann-Pick Disease Awareness Online Auction site is now live and operational! Please visit the
NNPDF October Awareness Month Online Auction site
now and see what we are cooking up for October 1st, when opening bids will be accepted.
New auction items are being added daily, and you can begin window shopping today! Some exciting items already posted include an autographed Brett Favre Minnesota Vikings jersey, a handmade quilt, authentic Chinese wall scrolls and masks, a DVD of the Super Bowl Champion New Orleans Saints, and gift cards from R.E.I. and Target.
The list is growing daily as families around the U.S. and Canada are busy making, collecting and donating items for this important event which will raise funds in support of family services programs and essential research into Niemann-Pick Disease.
Please Help!
Your participation is needed to help make this auction the huge success we know it can be!
Please think about what you and your family might donate to the auction. Popular auction items include handmade crafts and gifts, gift cards to nationwide retailers or service providers (restaurants, department stores, home improvement stores, hotels, bookstores, carpet cleaning, etc.), sports memorabilia, collectors’ items, vacation packages, tickets to sporting or theater events, jewelry, artwork, tools, etc.
Items may be donated by an individual/family, or donations may be solicited from your area businesses.
(Please, no glass or fragile items that may be damaged in shipping, no alcohol or firearms, and nothing that cannot be shipped or for which shipping costs would be prohibitive.) (Shipping costs will be the responsibility of the buyer, unless the donor elects to donate shipping costs.)
Auction to Feature State-Themed Baskets
One special feature of the NNPDF auction will be themed “baskets,” or “collections,” with items unique to a state or region. Examples might be non-perishable food items representative of a state or region, regional-flavor clothing or jewelry, professional or college sports memorabilia or tickets, souvenir/collectors’ items, etc.
How to Donate
Please let us know ASAP what you plan to donate for the auction, so we can post it to the site. Please
complete this form
and send the form, together with a photo (jpg format if possible), to
NNPDF Board Member/Development Committee Co-Chair Ryan Kelly
.
Please do NOT send auction items to the NNPDF or CCNNPDF; items will be shipped directly from the donor to the winning bidder at the close of the auction (October 31st), with the buyer responsible for the cost of shipping. (Donors may choose to cover the cost of shipping, particularly for small or lightweight items which cost little to ship.)
Spread the Word!
Please email the link to the
NNPDF October Awareness Online Auction Site
to all your friends, family and acquaintances so they can get in on the fun and excitement, as well! This is a fabulous opportunity to raise significant funds for the Quest for a Cure, but we need your help in getting the word out.
Contact Us
For all the auction details, visit our
Online Auction
page. Please feel free to
contact the NNPDF Central Office
with any questions you may have about the Online Auction. We look forward to working together with you on this exciting opportunity! Together, we can make a difference!
[Sept 22, 2010 mem]
October is National Niemann-Pick Disease Awareness Month!
October is the time to raise awareness about Niemann-PickDisease! We need to get the word out about this rare disease to doctors, families, government leaders and the general public.
We invite and encourage each family to look within their family structure, friends and community support networks to create their own team and sponsor an awareness campaign and/or fundraising event during October 2010.
The NNPDF has a wealth of experience and resources to support you in any fundraising/awareness project you'd like to undertake, from a simple "Persevere" wristband sale or a "Family and Friends" letter, up to an all-out gala or golf tournament. Take a look at what
other NNPDF families
are cooking up for October.
One easy and effective way to support the foundation's goals of research into treatments and a cure, and to support families affected by Niemann-Pick Disease, is to participate in this
October's Online Auction
as a donor and/or a buyer.
It’s a win-win-win situation – the winning bidder gets a great deal on something they like with the added satisfaction of knowing their money is supporting a favorite cause, while the donor has a great feeling knowing their gift will go far to help families affected by NPD. Best of all, the NNPDF is able to use the proceeds to diligently advance our mutual Quest for a Cure!
There are three ways you can help us make this auction a big success: donate an item(s) for auction; bid on auction items; and spread the word to all your family and friends so they can bid, too! (Please visit our
auction Web page
for all the details.)
We are busy getting our auction site set up so you can start to "window shop" the items up for sale. Please check the foundation's
Online Auction Web page
next week for a link to the auction itself. And we hope to
hear from you soon
regarding what you might be able to donate for this exciting new fundraising opportunity!
As always, Thank You for your continued support! Together, we can make a difference!
[Sept 17, 2010 mem]
2010 Peter G. Pentchev Research Fellowships Awarded
NNPDF Funds Two Postdoctoral Research Projects
The NNPDF is pleased to announce the recipients of the 2010 Peter G. Pentchev Postdoctoral Research Fellowships!
The research projects of Dr. Nicholas Cianciola of Case Western Reserve University, and Dr. Dorothea Maetzel of the Whitehead Institute for Biomedical Research, were selected through an application process which included reviews by the members of the NNPDF's Scientific Advisory Board (SAB).
Dr. Dan Ory, Chair of the NNPDF's Scientific Advisory Board summarized the two selected projects:
1. Nicholas Cianciola - "Activation of an alternative cholesterol homeostatic mechanism in NPC"
Dr. Cianciola’s project builds upon an exciting observation he made while a graduate student and will explore the role of a viral protein in facilitating movement of cholesterol from lysosomes. The research has the potential to identify new therapeutic targets to stimulate release of cholesterol from lysosomes in the absence of a functional NPC1 protein.
2. Dorothea Maetzel - "In Vitro modelling of Niemann-Pick type C Disease Using Patient-Specific Induced Pluripotent Stem Cells"
Dr. Maetzel’s project will lead to development of pluripotent stem cells from human NPC mutant fibroblasts. The stem cells will then be used for high throughput assays to identify small molecules that can correct the cholesterol accumulation in the NPC cells. Development of these cell lines will allow allow testing of whether the genetic defect can be corrected in the stem cells, which could have therapeutic potential.
For more details, including links to the two researchers' Lay Summaries, please visit our Latest Research page.
Congratulations, Dr. Cianciola and Dr. Maetzel! Thank you for your work in advancing Our Quest for a Cure!
[Sept 14, 2010 mem]
Sarah Elisabeth Glassman
January 30, 2007 - August 30, 2010
|
Sarah Elisabeth Glassman (NPA/B) |
With great sadness we pass along word of the death of Sarah Elisabeth Glassman, age 3 years, from the effects of Niemann-Pick Disease Type A/B (ASMD).
Sarah is survived by her parents, Aaron and Valerie Glassman of Norfolk, Virginia; her brother, Zachary; grandparents Dr. Myron and Nanci Glassman and Brenda Bowling; and many aunts, uncles, cousins, friends and admirers.
"Loved by all who knew her, delicate and tiny Sarah was an amazing inspiration. It was an honor to be with this little angel. She taught everyone the true value of each day on earth and gave us all so many happy memories."
In lieu of flowers, memorials can be made to the Edmarc Hospice for Children (www.edmarc.org) or the National Niemann-Pick Disease Foundation.
[Aug 31, 2010 mem]
Every Life is a Promise...
| Ty Quandt (NPC) |
The NNPDF recently sent out a letter featuring the Quandt family, specifically, Ty Quandt's battle with Niemann-Pick Disease Type C. This letter is one of two annual appeals for support from our friends and families to help us continue the Quest for a Cure for Niemann-Pick Disease, and to help provide family support services through the foundation.
Please click here to read the letter from Ty's mom and Chair of the NNPDF Board of Directors, Karen Quandt.
[Aug 30, 2010 mem]
Coping with Change: Strategies for Responsive Behaviors
Presentation on Dementia
At the recent NNPDF Family Support and Medical Conference, Lisa Loiselle, MA, and Leah Sadler, MHS, gave a presentation for families coping with issues of dementia. As Niemann-Pick Disease progresses, neurological changes may result in "responsive behaviors," also known as challenging or disruptive behaviors. These may include verbal or physical behaviors, either non-aggressive or aggressive in nature.
Loiselle, Associate Director of Research, and Sadler, Associate Director of Education, both at the Murray Alzheimer's Research and Education Program (MAREP) at the University of Waterloo, Ontario, spoke to families about strategies for dealing with these behaviors.
Their presentation included a PowerPoint presentation which they have graciously given permission to post to our Web site. Please click here to view the PowerPoint.
[Aug 27, 2010 mem]
Aaditya Michael Dasgupta
February 15, 2001- August 12, 2010
|
Aaditya Dasgupta (NPC) |
We sadly inform you of the death of Aaditya Michael Dasgupta due to Niemann-Pick Disease Type C (NPC), on August 12. Nine-year-old Aaditya is the son of Aaditya Ravi Dasgupta and Tasneem Tankiwala of India, and the nephew of NNPDF member Duriya Lakdawala of Michigan.
A funeral mass was held on Saturday, August 14.
Our deepest sympathy to Aaditya's family and many friends.
[Aug 23, 2010 mem]
Christopher Lee Fox
November 27, 1987 - September 29, 2009
|
Christopher Lee Fox (NPB) |
On Friday, September 25, 2009, surrounded by the love of his family, Christopher Lee Fox, age 21, entered into rest and is finally at peace after a long and courageous battle with Niemann-Pick Disease Type B (ASMD).
Chris was born on November 27, 1987, and was a 2009 graduate of Networks School. He was a fan of professional wrestling, particularly "Triple H," and he enjoyed the Wolverine character from the X-Men series. Chris also maintained a varied collection of nutcracker figurines from all over the world. A friendly and outgoing person, Chris loved life and had a smile for everyone he met. He will be sadly missed by the many people who both loved and admired him.
He is survived by his parents, Terry and Mike Fox; brother, Michael Fox and his wife, Alecia; sister, Ashley Fox; maternal grandparents, Sue and Gordon Saltar; paternal grandparents, Peggy and Jack Fox; and many aunts, uncles, cousins, and friends.
All our sympathy goes out to the Fox family in their loss.
[Aug 19, 2010 mem]
2010 Family Conference is a "Wrap!"
|
|
| Kids had a great time in the Childcare/Activity Room at the 2010 NNPDF Family Support and Medical Conference. Thanks to the many volunteers who all played an important part! | Monica Taillefer (NPC), daughter of Simon Taillefer and Heather Patenaude-Taillefer, celebrated her 1st birthday at the conference with a "Princess Party." |
The 18th Annual NNPDF Family Support and Medical Conference was held August 5 - 8, at the beautiful Delta Chelsea Hotel in downtown Toronto. With the largest attendance at any Family Conference to date, the conference was a great success! Families in attendance benefited from an array of sessions with physicians, researchers, support professionals, and other families affected by NPD.
Attendees enjoyed the many amenities of the very diverse city of Toronto, and Friday evening were treated to a Toronto Blue Jays baseball game, and on Saturday evening, to a family celebration banquet and dance, complete with magician to entertain the kiddies.
Many attendees are posting photos from the conference to
Facebook
, and you can see over 300
photos shot by conference volunteer Nancy Kreuger
at Snapfish. (A free membership is required to view Snapfish albums.)
Keep an eye on this Web site for links to more fun conference photos in the near future!
[Aug 13, 2010 mem]
NIH Takes on New Role in Fight Against Rare Diseases
The Wall Street Journal recently published an article about the National Institutes of Health's Therapeutics for Rare and Neglected Diseases (TRND) program. According to the article, TRND pilot projects will take the NIH in a new direction -- that of developing drugs.
Due to the small potential market for drugs for rare and neglected diseases, pharmaceutical companies are often reluctant to put forth resources to developing drugs for those conditions. The NIH TRND program will work to overcome the obstacles that lie between patients and promising new treatments.
Click here to read the article by Amy Dockser Marcus.
[Aug 13, 2010 mem]
Notre Dame Dean Rides to Raise Funds and Awareness
for Partnership with Ara Parseghian Medical Research Foundation
|
|
UND Dean Greg Crawford and wife, Renate |
Greg Crawford, Dean of the College of Science at the University of Notre Dame (UND), and his wife, Renate, are riding bicycles from Arizona to Indiana in celebration of the new partnership between UND and the Ara Parseghian Medical Research Foundation (APMRF). The 2200 mile ride began in Tucson, home of the APMRF, on July 24, and is expected to wind up at UND in South Bend, Indiana, on August 23.
An article about the ride, by Julie Hail Flory, gives more background about the motivation for the ride:
Notre Dame and the Parseghian Foundation last month announced an enhanced relationship formed in order to support and advance research initiatives to find treatment and cure options for Niemann-Pick Type C (NPC), a rare and deadly neurodegenerative disease that primarily strikes children before or during adolescence.
“The ride is a celebration of the unique relationship between Notre Dame and the Parseghian Foundation,” Dean Crawford said. “Through the partnership, we will fund not just Notre Dame scientists looking for treatments and cures for this disease, but also young researchers at other universities in order to form new partnerships – and build on existing ones – as we work toward our common goal of tackling this devastating disease.”
Click here to read the full article.
Supporters can make donations via the Crawfords' blog, Desert to Dome: Riding for the Lives of Children , at http://blogs.nd.edu/gregcrawford/ . Photos and frequent posts keep readers up-to-date on the pair's progress, with the ride being tracked on Google maps.
[Aug 4, 2010 mem]
2010 NNPDF Family Directory, Posters and Brochures
The Central Office of the NNPDF (U.S.) has been busy developing and updating some important foundation publications which are now available to the membership.
Family Directory -- One important benefit of membership in the CCNNPDF/NNPDF is the ability for families affected by Niemann-Pick Disease to network with other families who understand and care. The NNPDF Family Directory has proven to be a useful tool in establishing and fostering those family connections and relationships, and it provides a means for families to reach out to other families for support and sharing of information.
Member families should be watching their mail for the newly-updated 2010 NNPDF Family Directory. (The directory is only distributed to member families.) The information in the Family Directory is published with the permission of those included, and must be kept confidential. In providing the directory, the NNPDF expects all recipients to be respectful and courteous in the use of personal contact information.
Posters -- Also included in the mailing is an order form for some exciting new posters to raise awareness of Niemann-Pick Disease. There are three different posters, all available for your fundraising and awareness events. Follow these links to view the posters and to access an order form:
"Apple" poster "Chalkboard" poster "DNA Ball" poster
All four posters are 18" wide by 24" high. You can also print the posters from the PDFs linked above.
Brochures -- The mailing also includes copies of two new brochures about NPD ASMD (also known as Type A, A/B, or B) and NPD Type C (NPC). Please use the order form linked below to request additional brochures and newsletters for your family's fundraising and awareness events.
Brochure and Newsletter Request Form
We look forward to receiving your feedback on these projects in support of our "Quest for a Cure."
[July 30, 2010 mem]
Promising Therapies for Niemann-Pick Type C Disease
National Institute of Neurological Disorders and Stroke Meeting
June 2010
There has been quite a bit of discussion on the NNPDF listserv pertaining to the recent research and treatment options for Niemann-Pick Type C (NPC) Disease.
To provide some background and insight for these continuing discussions, we have compiled a summary of the presentation abstracts from the "Promising Therapies for Niemann-Pick Type C Disease" meeting sponsored by the National Institute of Neurological Disorders and Stroke (a division of the US National Institute of Health) in Rockville, Maryland, June 3-4.
[July 12, 2010 mem]
NNPDF Announcement
Please read the following message from NNPDF Board Chair Karen Quandt:
Cate Walsh Vockley, the National Niemann-Pick Disease Foundation’s Coordinator of Education, Referral and Advocacy, has resigned her position with the NNPDF as of June 30, 2010. The NNPDF Board of Directors and the Central Office will be addressing all inquiries to assist our family membership and work to ensure that there is no interruption of family support, referrals and services. Please contact the Central Office at 1-877-287-3672 or email [email protected] .
Cate has been a passionate advocate at the NNPDF for the patients and families affected by all types of Niemann-Pick Disease for the past six years. She has been an integral part of our family support services and has helped many families navigate through the uncharted emotional and medical maze that goes along with a rare disease. We will miss her and we wish her well in all her future endeavors.
Thank you, Cate, for your dedicated service to help make the foundation a strong and reliable place for families to seek assistance and advice in our quest to care for our family members and to find a treatment or cure for Niemann-Pick Disease.
Karen Quandt
NNPDF Chair
Cate's message to the membership of the NNPDF:
Dear NNPDF Friends,
My contract with the Foundation will end as of June 30, 2010. I have enjoyed my work with the Foundation and especially with the many families with whom I have interacted over the years. Dealing as we have, with the many sensitive issues that affect families of those with chronic, debilitating conditions, has created connections that will stay with me forever.
I will continue to support the goals and mission of the Foundation, and pray that the effective treatment and cure you seek will come soon. I will be continuing my work in the field of rare disease recognition and therapeutics, but with a different focus for now. I do hope to see some of you in the future, at meetings or gatherings that support common goals.
I wish you all the best!
Kind regards,
Cate
Cate Walsh Vockley, MS, CGC
Senior Genetic Counselor
Division of Medical Genetics
Children's Hospital of Pittsburgh
One Children's Hospital Drive
4401 Penn Avenue
Pittsburgh, PA 15224
Tele: 412-692-7349
Fax: 412-692-7073
[email protected]
Any questions or inquiries may be directed to the
NNPDF Central Office
.
[June 30, 2010 mem]
2010 Alex and Laura Vaughan Memorial Golf Tournament
Raises $22,000 for the Fight Against NPD!
| The 2010 Alex and Laura Vaughan Memorial Golf Event featured a silent auction and dinner in addition to golf. | |
The 8th Annual Alex and Laura Vaughan Memorial Golf Event, held on June 19, was a huge success, raising $22,000 for the fight against Niemann-Pick Disease. Thanks to the many participants, donors and supporters and to cooperation from the weather, a wonderful day was enjoyed by those in attendance, all while benefiting a worthy cause.
Visit our Recent Events page for more details and a photo of the winning team of golfers.
[June 21, 2010 mem]
Brooke Lynn Thomas (NPC)
March 5, 2001 - June 16, 2010
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Brooke Lynn Thomas (NPC) |
With very heavy hearts, we inform you of the passing of little Brooke Thomas, 9-year-old daughter of D.J. and Vicki Thomas of Blair, Nebraska. Brooke was able to complete the school year which ended a few weeks ago, but developed complications from a case of pneumonia. Despite their heartbreaking loss, the family is taking comfort in the knowledge that prior to her unexpected death, Brooke was a happy, carefree and engaged little girl who enjoyed life.
Brooke is survived by her parents; a sister, Shawn McAllister; and grandparents, aunts, uncles, cousins and many loving friends.
A celebration of Brooke's life will be held Monday, June 21st, at 10:00 am at Salvation Army Citadel, 3738 Cuming Street, Omaha, with a visitation Sunday, June 20th, from 2:00 -6:00 pm at Braman Mortuary, 1702 N. 72nd Street, Omaha. Visit www.bramanmortuary.com to leave a message of condolence.
Memorials may be directed to the National Niemann-Pick Disease Foundation.
Our deepest sympathy to all Brooke's family and friends in their loss.
[June 18, 2010 mem]
LoganFest III a Roaring Success!
Puyallup, Washington
| Karen and Gene Quandt with son Ty at LoganFest III |
The Kalles Junior High School's LoganFest 3-on-3 basketball tournament saw 35 teams of all ages competing to help raise funds and awareness for Niemann-Pick Disease in honor of Kalles seventh-grader Ty Quandt (NPC).
Teams played a minimum of four 20-minute games, leading up to the championship games. Prizes for first and second place teams, raffle prizes, "Persevere" t-shirts, team t-shirts and concessions added to the action.
In addition to Kalles students, teachers, staff and families, donors and supporters included Ty's friends and former teachers from Mt. View Elementary School.
LoganFest is named in honor of a child who inspired the first event in his fight against neuroblastoma cancer. The school's motto, "Tyee Goodness" (from the Chinook Jargon), implies acts of kindness, and LoganFest is just one example of how Kalles Junior High embodies "Big Goodness."
Videos from LoganFest III are posted to YouTube:
Set to "I Gotta Feeling" by Black Eyed Peas (1:45)
Set to "Wait til You See My Smile" by Alicia Keys (4:03)
[June 9, 2010 mem]
Genzyme Marathoners Raise Funds and Awareness for Rare Diseases
Two Run Boston Marathon in Honor of Niemann-Pick Disease Type B
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A team of runners from Genzyme (left) competed in the 2010 Boston Marathon, raising funds and awareness for the National Organization of Rare Diseases. Two Genzyme team members ran in honor of Collin and Cohen Parody (NPB) (right) and wore shirts with the boys' photo on them. |
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A team of runners from Genzyme Corporation competed in the 2010 Boston Marathon this spring, raising approximately $25,000 for the National Organization of Rare Diseases (NORD). Each runner or pair of runners raced in honor of someone affected by a rare disease, and two of the marathoners were matched up with Collin and Cohen Parody, both affected by Niemann-Pick Disease Type B. The runners wore shirts with a photo of the boys, and ran in their name.
The runners spoke of their excitement and sense of meaning in running in honor of a specific individual affected by a rare disease. As one runner commented, "I just have to say that working on this has made the experience so much more significant for me. Besides putting a human connection on the whole venture, it puts what we’re doing in perspective.... The fundraising and awareness are as much a part of this – if not more so – than the running is now. And that’s saying a lot, considering we’re runners! "
[June 7, 2010 mem]
Joseph James Colton (NPA/B)
May 18, 2005 - May 19, 2010
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Joseph James Colton (NPA/B) |
Joseph was a happy child from the day he was born until the day he died. His enthusiastic smile brightened the room. Joseph loved to attend his brother's baseball and football games, watching and rooting for the teams to score. Joseph enjoyed birthday parties, listening to music while dancing in his chair, hanging out in his community pool, taking morning or evening walks through his neighborhood and stopping to toss acorns into the water from the bridges.
We can all learn from Joseph's example how to embrace the simple pleasures available to us in each precious day. While his life was far too short, it was a life well-enjoyed and well-lived.
Our deepest sympathies go out to Joseph's family and friends in their loss.
[May 27, 2010 mem]
18th Annual NNPDF Family Support and Medical Conference
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The NNPDF Family Support and Medical Conference Planning Group is hard at work developing an agenda chock-full of information (and fun!) for the 18th annual conference, scheduled for August 5 - 8, at Toronto's Delta Chelsea Hotel. A detailed agenda will be available in the next few weeks. In the meantime, to help you plan your travel, here is a Schedule-at-a-Glance . For attendees who will be driving to the conference, or who may plan to rent cars during their trip, we have parking information, as follows: Patrolled underground parking is available at the Delta Chelsea Hotel, at a special conference rate of $20 per day (CAD) (normally $28 per day), with 24-hour access. The $20/day (CAD) rate also applies to oversized vehicles, with a limited number of spaces available. Ground-level public parking is also available adjacent to the hotel on Gerrard Street, at a rate of $16 (CAD) per 12 hours. This conference will be the first international conference of its kind, and is being co-hosted by the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF), and the Cowie, Vaughan and Liegghio families, all of Canada. If you did not receive a conference registration packet, please contact the NNPDF , or visit our Family Conference page for complete details and links to download the registration packet and forms. [May 26, 2010 mem] |
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Deborah Pleasant Williford
January 29, 1949 - May 2, 2010
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Deborah Pleasant Williford |
We have received word of the death of 61-year-old Deborah Pleasant Williford of North Carolina from Niemann-Pick Disease.
Deborah is survived by her sister, Sharon Marsha P. Kendall of Wendell; and many special nieces and nephews and aunts and uncles.
The family will receive relatives and friends from 6:00 to 8:00 p.m. Wednesday, May 5, 2010 at L. Harold Poole Funeral Service & Crematory, 944 Old Knight Road, Knightdale, North Carolina. Funeral services will be held at 11:00 a.m. Thursday, May 6, 2010, also at L. Harold Poole Funeral Service chapel.
Memorials may be made to the National Niemann-Pick Disease Foundation at the family's request.
Our deepest sympathy to Deborah's family in their loss.
Ironman Raising Funds and Awareness for Niemann-Pick Disease
A message from NNPDF member, Anne Marie OConnor-Smith:
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https://www.kintera.org/faf/donorreg/donorpledge.asp?ievent=318597&supID=279813450
There are currently 48 registered participants, Janus matches the top 50.
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Here are the rules for the Janus fund matching donations: #1 through #5 Janus donates between $2,000 to $10,000 to the top 6 dollar earners #6 through #35 Janus donates $750 if they raise $750 or more on their own #36 through # 50 Janus donates $100 So, if we can get another $445 in the next 5 weeks, we will get the extra $750 from Janus!! Total contribution would be $1,500 to the NNPDF!!!!!! But why stop there! Let’s see if we can’t propel Mike into the top 6 and really leverage our efforts ~ not only his work and sweat equity on the day of the event ~ but the heart and determination that every person diagnosed with NPD utilizes each and every day ~ we could truly make a difference to the work and research supported by the NNPDF! If you are able we would consider your support of his efforts on June 27th at the Coueur d'Alene IronMan Triathlon a true testament to every NPD child, adult and family.
Thank you in advance for your consideration,
To read more about the Janus Ironman Charity Challenge, visit: http://www.januscharitychallenge.com/site/c.egLOIYOGKtF/b.591535/k.4568/Program_Overview_and_Requirements.htm [May 25, 2010 mem] |
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FDA grants “Orphan Drug Designation” to Cyclodextrin for treatment of
Niemann-Pick Disease Type C
Due to the efforts of Hugh and Chris Hempel, Dr. Caroline Hastings and Ron Browne, an application to the Food and Drug Administration requesting “Orphan Drug Status” for Cyclodextrin has been approved.
What exactly does that mean for our NPD community? It is important to emphasize that an Orphan designation does not make any assessment at all on how the drug works in clinical trials, whether it is safe or effective in patients, nor whether it will ever be commercially available – the Orphan designation’s main purpose is to make the development of the drug more financially viable for the developer.
Please visit our cyclodextrin page for a bit of background and glossary terms that will help you to understand this latest development.
[May 21, 2010 mem]
Helping Children with Grief
"Sargeant's Heaven" Deals with the Loss of a Sibling
NNPDF member Judy DeSouza recently met Connecticut State Senator L. Scott Frantz and his wife Icy Frantz, who lost their 2-year-old son, Sargeant, to a mitochondrial disease. Icy Frantz has written and published a children's book titled, " Sargeant's Heaven ," which may help children cope with the grief of losing a sibling.
NBC's Ann Curry interviewed Icy Frantz in this Making a Difference segment.
For additional resources, check out our Grief Support Resources and Coping with NPD pages.
[May 18, 2010 mem]
"Promising Therapies for Niemann-Pick Type C Disease"
NIH (NINDS) to Sponsor Meeting
June 3 - 4, 2010
The National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) is sponsoring a meeting in early June titled "Promising Therapies for Niemann-Pick Disease Type C Disease." This meeting, set for June 3 - 4, at the Rockville, Maryland Hilton Hotel, is open to scientists, physicians and families until the maximum registration has been reached.
The tentative agenda for the meeting (subject to change) is available here , and travel and lodging information for non-sponsored attendees is available here . To register online, please visit Promising Therapies for Niemann-Pick Type C Disease Registration Link .
[May 12, 2010 mem]
"Embracing Every Moment"
Newspaper Features Spencer Family
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Rebecca Spencer and son, Johnathan
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The Gilroy Dispatch (California) ran a feature April 29th on 4-year-old Johnathan Spencer's recent diagnosis with Niemann-Pick Disease Type C. Johnathan, the son of Keith Spencer and Rebecca Spencer, lives life with joy despite the challenges of the disease. The article, titled, "Embracing Every Moment," details the family's journey to the diagnosis and how they are coping with the heartbreak of an NPC diagnosis.
Click here to read the article and see more photos.
[May 3, 2010 mem]
Caileen Harley Harrison (NPA/B)
May 7, 2008 - April 19, 2010
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Caileen Harrison and her mom, Valerie Montgomery
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We are very sorry to pass along word of the death of little Caileen Harley Harrison, just short of her 2nd birthday, due to complications of Niemann-Pick Disease Type A/B. Caileen was the daughter of Valerie Montgomery and Collis Harrison, both of California.
Kelly Puente of the Long Beach (California) Press-Telegram filed this story on the joy Caileen brought her family despite her struggle with Niemann-Pick Disease.
Our deepest sympathy goes out to all Caileen's family and friends in their loss.
[April 30, 2010 mem]
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New Communication Tools in Use at NNPDFFacebook, blog, RSS.....we are learning some new language at the NNPDF. The above are all electronic communication tools to help us relay up-to-the minute news and information about our Niemann-Pick Disease community and happenings to all our members and friends. |
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On each page of our Web site, in the blue border on the left (between the words "Donate Now" and the Pico Search feature), you will see three square icon buttons. Click on them and they will link you to our blog, our Facebook page, and the RSS feed, left to right.
[April 30, 2010 mem] |
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Ty's Story
in 2010 Neuro Film Festival
Sponsored by American Academy of Neurology Foundation
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Karen Quandt
and Ty Quandt (NPC) |
Hi all,
Here is the video of Ty (Ty's Story) that is on YouTube as part of the 2010 Neuro Film Festival sponsored by the American Academy of Neurology Foundation (AANF). They are having a Neuro Film Festival at the convention in Toronto this Sunday. It is the largest convention of neurologists in the world.
So far Ty's video has been viewed 1,057 times! They have given the YouTube link to the neurologists attending or interested in this conference, so many of those views were by neurologists. They may show Ty's video at the conference on Sunday; I won't know for sure until they post information this weekend. Dr. Patterson will be at this conference and I sent him the video so he would know it is part of the Neuro Film Festival on YouTube and may be shown at the conference as well.
They said they will be doing the AANF Neuro Film Festival again next year. The convention is in Hawaii next year and the winners of the Neuro Film Festival get to attend the conference. Since we have so many families making videos, maybe we should let everyone know about this and have the families submit their videos if they so choose!
Karen Quandt, MN
NNPDF Board Chair
Mom of Ty Quandt (NPC)
[Apr 9, 2010 mem]
Save the Date!
Watch Your Mail for 2010 Family Conference Info
The NNPDF is mailing out "Save the Date" card for this summer's 18th Annual Family Support and Medical Conference scheduled for August 5 - 8, in Toronto! Put the card up on your refrigerator and mark your calendar now for your visit to our good friends to the north.
For more conference details, visit our Family Conference page frequently, as new information is added almost daily. Complete registration packets will be mailed to member families in May. Early birds can find conference registration forms, Helping Hand Stipend application forms, and many tips for trip planning on our Web page in the meantime.
[Apr 1, 2010 mem]
Health Canada Approves Zavesca for Use in Niemann-Pick Type C
First Authorized Treatment in Canada
Health Canada recently announced its approval of the drug Zavesca (miglustat) as the first authorized treatment for neurological symptoms of Niemann-Pick Disease Type C (NPC). Zavesca is not a cure for NPC, but it has shown promise in treating symptoms related to NPC and in slowing the progression of the disease for some patients.
In addition to Canada, Zavesca has been approved for use in NPC in the European Union, South Korea, Brazil, Russia and Australia. (Currently, in the United States, Zavesca can only be prescribed "off-label" for use in NPC. Visit the Treatment Options for NPC page for more information.)
For more details and the press releases, click here .
[Mar 24, 2010 mem]
Passport Day in the USA
Saturday, March 27th
On Saturday, March 27th, the U.S. Department of State will celebrate “Passport Day in the USA,” a national outreach event to inform the public about upcoming changes to U.S. travel document requirements, provide passport information and accept passport applications.
All Department of State Passport Agencies, and many Passport Acceptance Facilities around the country, will host passport application acceptance events. U.S. citizens without a valid passport book or passport card are encouraged to apply on this day.
The 18th Annual NNPDF Family Support and Medical Conference is being held in Toronto this August, and everyone traveling to Toronto from outside Canada (including the United States) will need passports. Saturday's event is a great opportunity to tick that item off your list.
Visit the U.S. Department of State Web site for more information about the March 27th event and to find locations near you.
[Mar 23, 2010 mem]
Puyallup School District Honors Nancy Kreuger
Educator, Volunteer and Friend
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Ty Quandt (NPC), with paraeducator
and friend, Nancy Kreuger |
The Puyallup (Washington) School District recently recognized Mt. View Elementary paraeducator Nancy Kreuger as a District Employee of the Year. Kreuger assisted Ty Quandt (NPC) at school one-on-one for the past five years. (Ty, as a seventh-grader, has now moved on from the elementary school.)
Kreuger has been with the Puyallup District since 1990 and has been a paraeducator at Mt. View Elementary all of those 20 years. This year she works in the school library, coordinates Associated Student Body leadership and community service activities, and mentors a student in the district's Advance Program.
Mt. View Elementary Principal Nancy Strobel said about Nancy, "She has such a positive attitude and takes initiative. When Nancy sees that something needs to be done, she figures out a way to make it happen ... She has made a difference in many, many lives."
"Kreuger," as many call Nancy, has also been a valued volunteer for the NNPDF at fundraisers and at the 2009 Family Conference, and plans to also help at the 2010 conference.
Congratulations, and many thanks, "Kreuger," for all you do!
[Mar 22, 2010 mem]
"March Gladness" Strikes in Edgewood, Washington
Elementary Students' Service Project Benefits Two Causes
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| "Shoeboxes for Soldiers" combines with "Persevere" campaign for student service project |
Students at Mt. View Elementary School in Edgewood, Washington, participated in their district's "March Gladness" volunteer event with a creative project simultaneously benefiting soldiers and the Niemann-Pick Disease awareness "Persevere" campaign.
Visit our Recent Events page for more pictures and all the details.
[March 19, 2010 mem]
PBS TV SPECIAL
Rare Disease Diagnosis Through Technology - Part III
From its first days, DNA sequencing has proven to be invaluable to doctors and researchers. The completion of the Human Genome Project marked a significant achievement for the scientific and medical community, giving them important information about genetic diseases.
In the third of a three-part series on DNA sequencing, PBS’ To The Contrary continues its look at what the future holds for this rapidly developing area of scientific discovery. This series also showcases the potential for DNA diagnostics in advancing patient care while building awareness and understanding of this innovative technology and its impact on the rare disease community.
PBS air dates for the third segment are March 26th - 28th; check your local listings for air times. The program will also be available later via podcast through PBS' To The Contrary Web page .
A DVD of the previous segments, which aired in January and February, is available through the Children's Rare Disease Network .
[Mar 17, 2010 mem]
Daily Jefferson County Union Reports on FDA Announcement Regarding Zavesca
The newspaper of the NNPDF Central Office's hometown (Fort Atkinson, Wisconsin), the Daily Jefferson County Union, published an article regarding the FDA's recent "complete response letter" on Zavesca (miglustat) for the treatment of Niemann-Pick Disease Type C (NPC).
To read the March 16 Daily Union article, click here .
[Mar 17, 2010 mem]
Report from WORLD Meeting
Cate Walsh Vockley, NNPDF Coordinator of Education, Referral and Advocacy, recently returned from the 2010 WORLD (We're Organizing Research for Lysosomal Diseases) meeting.
Click here to read Cate's summary of the meeting's sessions.
[Mar 17, 2010 mem]
Puyallup Herald Features Karen Quandt, NNPDF Board Chair
The Puyallup (Washington) Herald recently published a feature on Karen Quandt of Edgewood, Washington, and her new role as NNPDF Board Chair.
Click here to read the story .
[Mar 17, 2010 mem]
Actelion Receives FDA "Complete Response Letter" for Zavesca (miglustat)
for the Treatment of Niemann-Pick Type C Disease
ALLSCHWIL/BASEL, SWITZERLAND - 09 March 2010 - Actelion Ltd (SIX: ATLN) announced today that the company has received a complete response letter from the U.S. Food and Drug Administration (FDA) for its supplemental New Drug Application (sNDA) for Zavesca® (miglustat) for the treatment of progressive neurological manifestations in adult and pediatric patients with Niemann-Pick type C (NP-C) disease, a rare, neurodegenerative genetic disorder.
The FDA has requested additional preclinical and clinical information. Actelion will work diligently with the FDA to explore the best ways to address the points raised by the agency.
Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: "We remain committed to bringing an approved treatment to patients suffering from NP-C disease and in this spirit we will continue the dialogue with the FDA."
Read the full press release here:
http://www1.actelion.com/en/our-company/news-and-events/index.page?newsId=1392243
Dear Families of the NNPDF:
It is with deep regret that I pass along word that the United States FDA has chosen NOT to approve Zavesca (miglustat) for the treatment of NPC at this time. We have learned in our discussions with Actelion representatives that there are three possible outcome scenarios with regard to FDA announcements as it pertains to New Drug Applications:
1) An Approval Letter
2) A Non-Approval Letter (straight denial)
3) Complete Response Letter (which is what Actelion has received)
For more information about the FDA Complete Response Letter ~ please refer to this link:
http://www.fda.gov/Drugs/GuidanceComplianceRegulatoryInformation/LawsActsandRules/ucm084143.htm
With the "Complete Response Letter" the FDA allows the pharmaceutical company to continue to explore and collect data which might more clearly show the positive impact that the drug has on the treatment of the disease. In addition, the CEO of Actelion, Jean-Paul Clozel, MD has indicated that they intend to remain committed to moving forward towards an approval with regards to Zavesca for patients suffering from NP-C.
In the European Union, South Korea, Brazil, Russia, Australia and Canada, Zavesca® is indicated for the treatment of progressive neurological manifestations in adult and pediatric patients with Niemann-Pick type C disease.
We will keep you abreast of new developments as we become aware of them ~ WE WILL PERSEVERE!
Kind Regards,
Nadine
[Mar 9, 2010 mem]
Editorial Highlights FDA's Consideration of Zavesca
and the Work of the NNPDF
The Daily Jefferson County Union, published in Fort Atkinson, home of the NNPDF's Central Offices, recently ran an editorial highlighting the FDA's consideration of Zavesca for use in NPC, and in support of the years of hard work and progress made by the foundation.
Please click here to read the editorial.
[Mar 9, 2010 mem]
NIH and FDA Announce Collaborative Initiative
Partnership to Speed New Treatments to Patients
The U.S. Food and Drug Administration and the National Institutes of Health have announced an initiative intended to accelerate the timeline between scientific breakthrough and the availability of innovative medical therapies to patients.
From the NIH's press release:
The initiative involves two interrelated scientific disciplines: translational science, the shaping of basic scientific discoveries into treatments; and regulatory science, the development and use of new tools, standards and approaches to more efficiently develop products and to more effectively evaluate product safety, efficacy and quality. Both disciplines are needed to turn biomedical discoveries into products that benefit people.
As part of the effort, the agencies will establish a Joint NIH-FDA Leadership Council to spearhead collaborative work on important public health issues. The Joint Leadership Council will work together to help ensure that regulatory considerations form an integral component of biomedical research planning, and that the latest science is integrated into the regulatory review process.
Click here to read the entire press release.
[Mar 5, 2010 mem]
Ideas for Change in America
Cast Your Vote in Favor of Rare Disease Issues
Dear NNPDF Members,
Let your voice and your vote be heard!
Ideas for Change in America
is a competition that empowers citizens to identify and build momentum around a diverse range of ideas for addressing the challenges our country faces.
From January - February 2010, more than 2,500 ideas were submitted and voted on by 100,000 people across the country. The top three rated ideas from each issue category qualified for the final round. These topics can be found at
http://www.change.org/ideas
.
Right now,
25 Million+, It is time to care about rare disease
is rated as the #1 overall topic!
Let's help it stay at the top. Comments from voters focus on the needs of the rare disease community as research moves toward effective new therapies.
Final round voting begins on March 1 and ends on March 12. The 10 most popular ideas will be presented to relevant members of the Obama Administration, and Change.org will subsequently mobilize its full community to support a series of grassroots campaigns to help turn each idea into reality.
Please take a few minutes and cast your vote on behalf of all who are affected by rare disease.! Thank you!
Cate Walsh Vockley
NNPDF Coordinator of Education, Referral and Advocacy
[March 3, 2010 mem]
Newspaper Features FDA Review of Zavesca
Lead Story for Daily Jefferson County Union
The Daily Jefferson County Union ran as the lead story the FDA's review of Zavesca (miglustat) for use in Niemann-Pick Type C patients on February 24. The Daily Union interviewed NNPDF Board Vice Chair Barb Vorpahl regarding her testimony to the FDA advisory committee and the subsequent review of Zavesca by the FDA.
The story was triggered by a press release issued by the NNPDF Central Offices, and was then expanded into a full length news feature. Click here to read the story published by the Daily Union.
[Feb 25, 2010 mem]
Letter to FDA in Support of Zavesca (miglustat) Application
Request for NPD Families to Sign On
Good Afternoon NNPDF Families and Friends,
As many of you know, the United States Food and Drug Administration (FDA) is
currently reviewing trial data information
pertaining to the application for
Zavesca as the first-ever treatment regimen for Niemann-Pick Disease Type C.
A Drug Advisory Review Committee and Panel convened in January 2010, in
Maryland where much of this information was presented and at which Barb
Vorpahl, chair of the NNPDF, Cindy Parseghian, president of the APMRF, and
Phil Marella,
of DART, were able to make personal appeals to the
committee/panel members on behalf of all children and young adults diagnosed
with Niemann-Pick Disease Type C.
Many families submitted personal letters in support of this application
review process and these family statements and testimonials had a REAL
impact on the members of the review panel. As a follow-up to this effort
and in continued support of our family membership, Phil Marella [Dad to Dana
(NPC ~ age 16) and Andrew (NPC ~ age 10)] is submitting
this letter
to
the FDA.
Phil is hoping to gather the backing of as many NPC families as possible and
will add each family name, NPC child and age, city and state to this letter
in support of the FDA Zavesca review process.
If you would like to have your family information included with this letter
indicating your support of these efforts ~ please e-mail
Phil Marella
directly at:
[email protected]
Include the following information:
Family Name
NPC Family Member Name and Age
City and State
Phil will then submit this letter on behalf of all participants.
Thank you to Phil and all for your continued efforts on behalf of this
effort.
Kind Regards,
Nadine
Letter from Phil Marella to FDA in support of Zavesca (miglustat)
[Feb 18, 2010 mem]
PBS TV SPECIAL
Rare Disease Diagnosis Through Technology - Part II
From its first days, DNA sequencing has proven to be invaluable to doctors and researchers. The completion of the Human Genome Project marked a significant achievement for the scientific and medical community, giving them important information about genetic diseases.
In the second of a three-part series on DNA sequencing, PBS’ To The Contrary takes a look at second-generation DNA sequencing technology like the SOLiD 3 Sequencing System and what the future holds for this rapidly developing area of scientific discovery. Tune in the weekend of February 19th as Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine explains the science behind DNA sequencing and how it is helping children and families diagnosed with a rare disease.
PBS air dates are Feb. 19-21st; check your local listings for air times. The program will also be available later via podcast through PBS' To The Contrary Web page .
A DVD of the first segment, which aired in January, is available through the Children's Rare Disease Network .
[Feb 18, 2010 mem]
Social Security Expands "Compassionate Allowance" Conditions List
NPC Among Conditions Added
The U.S. Social Security Administration has expanded the list of conditions included in its "Compassionate Allowances" program, providing expedited review of disability applications from people with severely disabling conditions. The Compassionate Allowances program began in 2008, with a list of 50 diseases including 25 rare diseases and 25 cancers. This is the first expansion of the list, and Niemann-Pick Disease Type C is now included under the program.
The Social Security Administration (SSA) selected the 38 additional diseases from those recommended at public hearings and a process of information-gathering. The National Organization of Rare Disease (NORD) Medical Advisory Committee provided input to SSA during the process, along with medical experts from the National Institutes of Health and other organizations.
NORD issued this press release about the announcement, including the full list of 38 diseases added. You can also read more about the Compassionate Allowances program at the SSA Web page .
[Feb 11, 2010 mem]
Damon's Story
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Damon Cardinal (NPA)
12/26/06 - 4/16/08 |
Little Damon Eli Cardinal, lost to Niemann-Pick Disease Type A at the age of 16 months, lives on in the hearts of his family as they work to increase awareness and raise funds for the fight against Niemann-Pick Disease. This video of a news story about Damon and the Cardinal family has now been uploaded to YouTube, spreading Damon's story and educating others about the disease just in time for World Rare Disease Day on February 28.
[Feb 4, 2010 mem]
"Inspirational Quilt" Showcases NPD Family Videos
The movie Extraordinary Measures, set to premier January 22, is hosting a video contest with a theme of "Make Your Own Miracle." Several of our NNPDF families have entered videos in the contest, focusing on the families' personal messages in support of NPC research. For more details, visit our Upcoming Events page.
[Jan 15, 2010 mem]
United States FDA Advisory Committee Backs Use of Zavesca for NPC
Significant Step Toward Possible FDA Approval
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| NNPDF Member families, researchers and media attended the FDA advisory committee's review of Zavesca (miglustat) on January 12. |
An advisory committee comprised of medical and clinical experts will recommend to the U.S. FDA that Zavesca (miglustat) be approved for use in Niemann-Pick Disease Type C (NPC) patients. The advisory committee reviewed data and heard statements and testimony from scientists, doctors and NPC families in a daylong review January 12 .
If the FDA approves the use of Zavesca for NPC, it will be a historic step, as this would be the first authorized treatment for the symptoms of NPC in the United States.
Many NNPDF member families submitted letters to the advisory panel in advance of the hearing, regarding the impact Zavesca has had on their family member, or what the availability of Zavesca might have meant for a loved one already lost to NPC.
Barb Vorpahl, NNPDF Board Chair, addressed the panel on behalf of NNPDF families ( read Barb's presentation here ), along with Cindy Parseghian of the Ara Parseghian Medical Research Foundation (APMRF) and Phil Marella of Dana's Angels Research Trust (DART).
Dr. Isaac Kobrin, Actelion's chief medical officer, told the panel, "This is a relentlessly progressive disease. We clearly see a change in the progression rate (with Zavesca). It's a very clear signal."
Weighing the risk of the drug versus potential benefits, Katherine Flegal, a senior research scientist at the Centers for Disease Control and Prevention, stated, "The risk from the drug is not devastating, but the disease is devastating. I think patients deserve an opportunity to see if they can benefit."
Reuter's News Service published this article about the hearing and decision.
From the Reuter's article:
Doctors can prescribe Zavesca now for NP-C, but Actelion needs FDA clearance to market the drug specifically for that use. Patient advocates also said insurers are reluctant to pay for the drug for NP-C patients without the approval.......The FDA usually follows panel recommendations when deciding whether to approve medicines. A decision [from the FDA] is due by March 10.
[Jan 13, 2009 mem]
Richard Joseph Carpenter (NPC)
April 3, 1969 - January 4, 2010
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Rich Carpenter (NPC)
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Richard J. "Rich" Carpenter, age 40, of Bloomfield Hills, Michigan, died on January 4, after a long battle against NPC. Beloved son of Edward and Mary Carpenter, Rich is also survived by four brothers and a sister: Catherine Kelly (Timothy), Edward S. Carpenter, III (Michelle); Charles M. Carpenter (Sara), Christopher F. Carpenter, M.D. (Shelley), and Thomas K. Carpenter (Julianne). Survivors also include thirteen nieces and nephews.
The family will receive friends and relatives at A.J. Desmond & Sons Funeral Home, 2600 Crooks Road, Troy, Michigan, on Monday, January 11, from 4 - 8 p.m., with a Scripture service at 7 p.m. A memorial mass will be held Tuesday, January 12, at 11 a.m., at St. Hugo of the Hills Stone Chapel, 2215 Opdyke, Bloomfield Hills.
Our sincere condolences to Rich's family and friends in this time of loss.
[Jan 8, 2010 mem]
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Rare Disease Day
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An estimated 30 million Americans are affected by a rare disease! Rare Disease Day is an annual event observed worldwide on the last day of February. The purpose of this day is to raise awareness of rare diseases as a public health issue. Rare Disease Day 2010 will also celebrate the special relationship between patients and rare disease researchers. Visit our World Rare Disease Day page for more information about how you can get involved in raising awareness. The National Organization for Rare Diseases (NORD) is the sponsor of Rare Disease Day in the United States , and EURORDIS is the sponsor in Europe.
Mark your calendar, and join hands with others affected by rare diseases to raise awareness. Watch this site for more information and ideas about how your family can get involved.
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Ryan Richardson Practical Nursing Scholarships Presented
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Ryan Richardson (NPC)
5/27/00 - 10/18/05 |
Left to right: Amber Hunter, Sherry Richardson (Ryan's mom),
and Jennifer Fair |
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Congratulations to the two practical nursing program students who have been awarded the Ryan Richardson Practical Nursing Scholarship! Amber Hunter, SPN, and Jennifer Fair, SPN, each received the scholarship in memory of little Ryan Richardson, who passed away due to NPC in 2005 at the age of five years. Ryan is the son of Christopher and Sherry Richardson of Crestview, Florida. Hunter and Fair both attend Walton Career Development Center in Defuniak Springs, Florida, the same nursing school where Ryan's mom, Sherry, graduated in 2008. [Dec 31, 2009 mem] |
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Endocrinologic and Metabolic Drug Advisory Committee Meeting
~ New Drug Application ~
ZAVESCA (miglustat) by Actelion Pharmaceuticals
Public Participation Information ~ Written NPC Testimonials
DEADLINE EXTENDED: Until Friday, January 1st, 2010
(Initial Deadline of Monday, December 28th, 2009 ~ extended until Friday, January 1st, 2010.)
GOAL: FDA approval for the use of Zavesca (miglustat) in NPC.
We have received word of an important and historic FDA related drug advisory committee meeting which is to be held in Maryland on January 12th, 2010, which will review Zavesca as a possible treatment and therapy for Niemann-Pick Disease Type C. An advisory committee panel of medical and clinical experts will gather together to review information and learn the data particulars as it relates to the use of Zavesca in NPC patients.
A segment of this meeting protocol allows for the participation of the public to submit written impact statements on the use of Zavesca ~ we would like to encourage our NPD family membership to take part in this portion of the meeting. With that in mind we have developed an informational sheet and guideline to assist those who wish to submit a written testimonial.
An announcement letter and helpful guidelines are available here.
You can read and learn more about this meeting at: http://www.fda.gov/AdvisoryCommittees/Calendar/ucm191156.htm
Please feel free to contact the NNPDF Central Office staff for more information and details.
Kind Regards,
Nadine
[Dec 28, 2009 nmh]
Brianna Michele Patterson (NPC)
February 16, 2003 - December 17, 2009
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Brianna Patterson, (left), 2/16/03 - 12/17/09 and sister,
Bailey Patterson 8/12/00 - 3/26/07
(Both NPC) |
Brianna and "Tinkerbell" |
We have received sad news of the loss of yet another precious child to Niemann-Pick Disease Type C. Little Brianna Michele Patterson, daughter of Tara Patterson and Jeremy Patterson, both of California, passed away on December 17, at the age of 6 years. Brianna touched the hearts of so many
people with her impish grin and infectious giggles. She loved to
dress up and her favorite outfits were anything to do with princesses,
fairies and make-believe. An opportunity to meet “Tinkerbell” is a memory
that her family will always cherish.
Brianna's obituary may be read here .
All our sympathies to Brianna's family and friends at this very difficult time.
[Dec 18, 2009 mem]
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Holiday Gift-Giving with a Purpose
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Each year hundreds of families from around the world depend on the NNPDF for medical information, research updates and emotional support as they struggle to care for a terminally-ill child or young adult. The NNPDF, in turn, depends on those wtih compassion and the financial resources to make a difference in the lives of those who are suffering.
In this season of holiday gift-giving, we would like to offer some ideas for ways to honor your loved ones and at the same time, advance our Quest for a Cure for Niemann-Pick Disease.
Online shoppers -- You can help the NNPDF by making any Amazon.com purchases via a special link. (To benefit NNPDF, you MUST enter Amazon via the link provided here .) MissionFish and GoodSearch are two more ways to benefit NNPDF when shopping online. Visit this article for more information about both MissionFish and GoodSearch, and how to use them to benefit NPD research and family services.
2010 Calendars -- The Tyrrell family (Naomi, age 7, NPC) has designed and produced this very special 2010 wall calendar , with sales benefiting the NNPDF. The calendars make wonderful gifts for friends and family. Supplies are limited, so don't delay!
Gifts to the NNPDF are tax-deductible and a year-end gift can significantly reduce income taxes while providing meaningful support for the work of the NNPDF. As you consider your year-end tax planning, we hope you will consider making good use of the income tax deduction. Your charitable gifts make an important difference in what we are able to accomplish.
Donations may be mailed to: NNPDF, P.O. Box 310, Fort Atkinson, WI, 53538-0310
Credit card donations may be made online: Donate to the NNPDF online
Tribute Gifts: Memorials, Anniversaries, Birthday Celebrations -- please let us know if you would like a card sent to your honoree notifying them of the donation in their honor.
Matching Gifts: Employee, business and corporate matching -- we can help with the verification process and documentation
Underwriting Gifts: Support a program or service that has special meaning to you
United Way Contributions: Employee payroll deductions. Tx ID # 35-1844264
Combined Federal Campaign (CFC): Employee payroll deductions. #10121
Gifts In-Kind: Donations of products or services in support of NNPDF programs
Gifts of Stock: A transfer of stock is a strong, tax-wise contribution
Planned Giving: Bequests through wills, trusts and estate planning
Please contact us if you would like further information about any of the above avenues for donation, and thank you for your consideration and generosity to the NNPDF!
Happy Holidays!
[Dec 8, 2009 mem]
Beware Emails from "NPD Group, Inc."
Subject Line
"PART-TIME MYSTERY SHOPPER POSITION WITH GOOD WAGES"
It has come to our attention that an email from a group calling itself "NPD Group, Inc." is circulating, promising employment as a part-time mystery shopper. While it is difficult to verify whether or not the "NPD Group, Inc." is a legitimate business concern, please be advised that this email is NOT from the NNPDF, nor from the NPD Group (UK), ( the Niemann-Pick Disease organization in the United Kingdom).
For more information regarding "secret shopper" scams, please read this article from Snopes.com. http://www.snopes.com/fraud/employment/shopper.asp
[Dec 8, 2009 mem]
Karlyne Ann Jones (NPC)
August 26, 1998 - December 2, 2009
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| Karly Jones (NPC) |
We received the sad news of the December 2nd death of Karlyne Ann Jones, age 11, from the effects of NPC.
Karly is survived by her dad and step-mom, Brent and Brenda Jones of McMinnville, Oregon; her mother, Gina Hamrick of Newport, Oregon; twin sister, Kaitlyn Jones of McMinnville, and two sisters, Karisa Lager and Kaylina Morley of Newport; step-sister, Jessica Layman of McMinnville; brother, Kylan Adams of Newport; and step-brother, Nick Layman of McMinnville. Also, grandparents Larry and Judy Jones of McMinnville; Darrell and Vickie Hamrick of Newport; Michele DeVries of Salem; and Don and Sheryl Simpson of Deer Lodge, Montana. She is also survived by numerous aunts, uncles, and cousins.
Brenda writes: " Our precious Karly has gone to heaven and is at peace at last. She is now running and playing soccer. I'm sure she enjoyed a chocolate brownie with whipped cream as soon as she could. Karly was a very strong little girl. She always had a smile for everyone and never complained regardless of how bad things got for her. She blessed others with her strength. She loved to visit with friends and family, have sleepovers, and watch her shows. She loved going places and 'cruising'. She will truly be missed by everyone who had the pleasure of meeting her."
A Celebration of Karly's Life will be held on December 12, at 2:00 p.m., at Church on the Hill in McMinnville, Oregon. Donations may be made at Key Bank for the family, or contact the NNPDF to make a memorial donation in Karly's name.
Karly's complete obituary may be viewed at newsregister.com .
Our deepest sympathies to all Karly's family and friends in this difficult time.
[Dec 7, 2009 mem]
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Recent Web Site Updates |
The NNPDF is pleased that Ed Schuchman, Ph. D., has rejoined our Scientific Advisory Board. Visit our SAB page for more information about Dr. Schuchman and the expertise he brings to our SAB..
A link to a booklet on palliative care from the National Institute of Nursing Research was recently added to our Hospice, Palliative, and Respite Care page.
A raffle for a vacation at the beautiful Massanutten Resort and a Scentsy (Flameless Candle) sale are the newest fundraisers added to the Upcoming Events page .
The hotel and dates for the 2010 Family Support and Medical Conference, to be held in Toronto, were announced this week on our Family Conference page.
Be sure to check back often for more Web site updates, as we work daily to keep you up-to-date!
[Dec 4, 2009 mem]
Elizabeth M. (FitzGerald) Roberts
October 15, 1923 - November 27, 2009
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| Elizabeth Roberts |
Mrs. Roberts' obituary may be viewed here .
[Dec 1, 2009 mem]
Curcumin FYI Document Updated
The FYI on use of curcumin in NPC patients has been updated to reflect new research data. Please see /Curcumin.html for details.
[Nov 23, 2009 mem]
MissionFish, GoodSearch and Amazon.com Benefit NNPDF
Are you an internet surfer, Amazon.com shopper, or eBay shopper or seller? MissionFish, GoodSearch and Amazon.com offer super simple ways to donate to the NNDPF when you use the internet --and just in time for your holiday shopping!
MissionFish is the partner charity of eBay. Through MissionFish , eBay users are able to donate to registered nonprofit organizations when they buy and sell on eBay.com , through a program called eBay Giving Works. In June 2008, eBay announced that its global user base, through eBay Giving Works and eBay for Charity, had raised over 150 million dollars for good causes around the world.
Look for MissionFish next time you buy on eBay, and if you are an eBay seller, please consider donating a portion of your sales through MissionFish. (Many thanks to the sellers who have already designated the NNPDF as their beneficiary!)
GoodSearch makes a donation for every internet search made through its site. Also, GoodSearch posts thousands of money-saving coupons and free shipping offers from your favorite stores! Just go to the GoodSearch site , and enter NNPDF in the field marked "Who do you GoodSearch for?" Then enter your search term(s) in the Search field, and click the Search button.
Here's a clip from ABC News Channel 30 in Fresno, CA , about GoodSearch. (Thank you to those of you who already use GoodSearch, naming NNPDF as your charity of choice!)
And Amazon.com will donate to the NNPDF if you shop via our specific Amazon.com portal . (Use the yellow "Click here" button on the Amazon.com graphic.) Please note, you MUST enter Amazon.com via this Web page for it to count toward a donation to NNPDF.
Thank you for your support of the NNPDF through GoodSearch , MissionFish , and Amazon.com , and happy holiday shopping!
[Nov 24, 2009 mem]
How many parts of the brain can YOU name?
Ty knows them all!
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Ty Quandt, age 13
(NPC) |
Ever wonder about all those complex parts that make the human brain the incredible organ that it is? Well, Steven Spielberg's Pinky and the Brain cartoon, which ran on the Kids WB! tv channel for several years, makes learning all those parts fun! The Emmy-winning Animaniacs spin-off included this segment , in which the character "Brain" recites all the parts of the brain.
Next, check out this YouTube video of 13-year-old Ty Quandt, son of Karen and Gene Quandt, having fun with it! Ty sings the parts of the brain
Way to go, Ty!
[Nov 19, 2009 mem]
U.S. Food and Drug Administration Grants Priority Review for Zavesca
Committee Discussion Scheduled for January 12, 2010
A press release issued by Actelion Ltd, makers of Zavesca (miglustat), announced that a supplemental new drug application for an extension of indication for Zavesca for the treatment of progressive neurological manifestations in NPC has been accepted by the U.S. Food and Drug Administration (FDA).
Further, the FDA has granted Zavesca a priority review designation, given to drugs that offer major advances in treatment or provide a treatment where no adequate therapy exists. It also means that the FDA will aim to complete the review within six months. Read the full press release here .
On January 12, 2010, the FDA's Endocrinologic and Metabolic Drugs Advisory Committee will discuss new drug application (NDA) 21–348, ZAVESCA (miglustat), 100 milligram (mg) capsules, by Actelion Pharmaceuticals, Ltd., proposed for the treatment of progressive neurological manifestations (symptoms related to the nervous system) in patients with Niemann-Pick Disease (type C). Read more, including how you can submit a written statement or make an oral presentation to the committee, here: http://www.fda.gov/AdvisoryCommittees/Calendar/ucm191156.htm
[Dec 1, 2009 mem]
Press Releases Create Awareness of Niemann-Pick Disease
Let Us Help You Raise Awareness in Your Community
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The First International Meeting of Niemann-Pick Disease Non-Profit Organizations was held recently in Scotland. This meeting marked an important step forward in worldwide collaboration in the fight against Niemann-Pick Disease. As a follow-up to this meeting, the NNPDF issued press releases to help raise awareness of NPD and to highlight this important global alliance. Click here to read the press release sent out to the media outlets in Board Chair Barb Vorpahl's area. Press releases help create public awareness of Niemann-Pick Disease. Awareness is essential to fundraising, and funding is essential for accelerating research into treatments and a cure. We can tailor a press release for use in your community, as well. |
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Karen (NNPDF Board Vice Chair) and Gene Quandt in Scotland for the First International Meeting of NPD Non-Profit Organizations |
Click here to read the version of the press release sent to the media in Karen and Gene Quandt's area. We can customize this press release or create another to help promote your fundraising event, or just to raise awareness of NPD in your community. The recent International Meeting of NPD Non-Profit Organizations provides a springboard and an opportunity to let your community know about this rare disease, and to let community members know that there is someone nearby who is coping with the challenges of NPD. Press releases help create public awareness of Niemann-Pick Disease, which in turn helps advance our Quest for a Cure. Please contact the NNPDF for assistance with a press release in your community, or just complete and submit this form with your information, and we will get started on your press release today! |
[Nov 19, 2009 mem]
NNPDF Family Directory Update in Progress
Is Your Family's Contact Information Up-to-Date?
Dear Members of the National Niemann-Pick Disease Foundation,
We are working on updating our NNPDF Family Directory. The information in the NNPDF Family Directory is published with the permission of those included, and is strictly confidential. The NNPDF stringently protects your privacy and does NOT make any information contained within the directory available to any outside source. The directory is distributed ONLY to NNPDF member families.
The NNPDF Family Directory’s purpose is to facilitate a network of support between families affected by Niemann-Pick Disease. Our families have found that relationships with others who know firsthand the issues surrounding Niemann-Pick Disease to be a great source of information and comfort.
We are asking all member families to update their family’s contact information so we can be certain the Family Directory is as accurate as possible. The directory will be mailed out as soon as it is printed, with a target of mid-January 2010.
If you have had a change in email address, telephone number, mailing address, or family names since the last directory was published (spring 2008), please be certain to let us know as soon as possible. You may complete and return the NNPDF Membership Form , or you can simply email the NNPDF with the updated information.
Thank you in advance for your assistance in this matter!
[Nov 18, 2009 mem]
"Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport
of cholesterol in Niemann-Pick type C cells."
New Paper's Abstract Now Available
Research from the lab of Drs. Michael Brown and Joseph Goldstein regarding cyclodextrin was published online recently in The Proceedings of the National Academy of Science.
For more information and to read the abstract, please visit our Latest Research page .
[Nov 16, 2009 mem]
"Psychosocial Aspects of Patients with Niemann-Pick Disease, Type B"
New Article by Dr. Wendy Packman, et al.
A new research article titled, "Psychosocial Aspects of Patients with Niemann-Pick Disease, Type B," was published recently in the online American Journal of Medical Genetics. The article is by Dr. Wendy Packman and colleagues.
For more information, including the abstract, please click here .
[Nov 16, 2009 mem]
Alexandria T. Bexton (NPC)
April 22, 1999 - November 11, 2009
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Alexandria T. Bexton (NPC)
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Alexandria T. Bexton, ten-year-old daughter of Michael and Stasha Bexton of Flint, Michigan, passed away November 11, from the effects of Niemann-Pick Disease Type C.
Funeral services will be held at 11:00 a.m. Monday, November 16, at Faith Missionary Church, 1327 North Elms Road, Flint, with Reverend Tom Knight officiating. The visitation will be from 5:00 - 8:00 p.m. Saturday, and 1:00 - 8:00 p.m. Sunday at the Swartz Funeral Home, 1225 West Hill Road, and at the church from 10:00 a.m. Monday until the time of the service.
Alexandria loved attending school at Marion Krause Instructional Center, and meeting and spending time with people. She enjoyed her dogs, being outside and her family.
Surviving are parents, Michael and Stasha Bexton; two sisters, Kaitlyn and Samantha; grandparents, Mark and Sherry Guenther of Flushing, Mary and Jim Bostic of Flint Township, Michael and Deborah Boswell of Crystal River, Florida; great-grandparents, Art and Florence Taylor of Lennon and William Guenther of Flint, Mark and Irene Bexton of Flint Township, Sandra Boswell of Crystal River, Florida; and many aunts, uncles and cousins.
All our sympathy goes out to Alexandria's family at this very sad and difficult time.
[Nov 12, 2009 mem]
Joele Jean Ruppert (NPA/B)
August 12, 2005 - November 8, 2009
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Joele Jean Ruppert (NPA/B)
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It is with great sadness that we report that Joele Ruppert, Niemann-Pick Type A/B, died on November 8. Joele was the 4-year-old daughter of Jeff and Kara Ruppert of Santa Barbara, California.
[Nov 11, 2009 mem]
2010 Wall Calendar to benefit NNPDF |
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$10 each plus shipping
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Calendars are ready for holiday gift-giving and make a wonderful way to show your appreciation to family, friends, and volunteers who have helped or shown support through the year. Welcome in the new year with these darling puppies! Click here for more details , or go directly to the order form . |
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[Nov 10, 2009 mem]
Gene Therapy Technique Slows Brain Disease ALD Featured In Movie 'Lorenzo's Oil'
Parents of children who have NPC are wondering if a new gene therapy technique might be useful in combating the disease affecting their children. Details of the therapy can be found at:
http://www.sciencedaily.com/releases/2009/11/091105143706.htm
And
http://sciencenow.sciencemag.org/cgi/content/full/2009/1105/1
We do not currently have scientists working on this for NPC, but Dr. Marie Vanier, who is on the NNPDF Scientific Advisory Board, was collaborating with the group that published the article about adrenoleukodystrophy (ALD). Karen Quandt, Vice-Chair of the NNDPF Board, asked Dr. Vanier about the studies and whether this technique can be applied to NPC. Dr. Vanier’s response was as follows:
“Unfortunately the procedure described for adrenoleukodystrophy (ALD) is NOT applicable to NPC1 patients, because this strategy has a chance to work only in diseases where bone marrow or cord blood transplantation has proven efficient. In ALD, bone marrow transplantation (BMT) has been shown quite efficient, provided it is done early enough. The big advance in the trial has been to use the patient's own cells, after correction by gene therapy. In NPC1 we know that bone marrow transplantation (BMT) has no effect on the neurological disease.
Note that BMT has some chances to work in NPC2, although it is still too early to conclude in the one patient who survived the transplantation procedure.”
[Nov 9, 2009 mem]
H1N1 and Seasonal Flu Information and Resources
We have received a number of calls about the advisability of vaccinating NPD patients against the H1N1 virus that causes “swine flu.” To help respond to questions you may have, we developed a Web page with links to various official publications about the virus and the vaccination, and information from Dr. Patterson and Dr. Wasserstein regarding vaccination for H1N1.
Please check out the many resources on our H1N1 and Seasonal Flu Information page and the information sheet provided to you by your pediatrician, family practitioner, internist or clinic where vaccinations are being administered.
Please discuss any concerns you might have with your primary or specialty care physician who is most familiar with your own or your family member’s medical condition.
[Nov 4, 2009 mem]
NHGRI Launches Improved Online Talking Glossary of Genetic Terms
The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, announced the launch of the next generation of its online Talking Glossary of Genetic Terms .
The glossary contains several new features, including more than 100 colorful illustrations and more than two dozen 3-D animations that allow the user to see genetic concepts in action at the cellular level. The glossary "talks" because users can actually hear an audio pronunciation of each term, and also listen to an audio explanation from scientists who provide context and other supplementary information.
The updated glossary provides a reliable resource for more than 200 terms and basic concepts behind today’s breakthroughs in genetics and genomics. The glossary is available at www.genome.gov/glossary .
[Oct 30, 2009 mem]
Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
Enzyme Replacement Therapy Clinical Trial (Type B)
With Phase 1 completed, we recently received this update from Genzyme regarding the Enzyme Replacement Therapy Clinical Trial for ASMD (Type B). Also, read the message from Dr. Margaret McGovern regarding the conclusion of Phase 1, and view the poster she and her team presented at the International Congress for Inborn Errors of Metabolism and at the American Society of Human Genetics Meeting. (Read the abstract here. )
[Oct 29, 2009 mem]
*In the News*
Niemann-Pick Disease on the Radio
NNPDF Board Chair Barbara Vorpahl and Director of Family Services Nadine Hill appeared on WFAW Radio's Morning Magazine program to talk about October NPD Awareness Month activities (including the Wisconsin Governor's proclamation of Awareness Month ), the NNPDF's online auction fundraiser , and the first international meeting of non-profit NPD organizations held recently in Scotland.
To hear the program, visit the WFAW Radio Web site , and scroll down to the Morning Magazine link for Wednesday, October 21st. Click "Play," and then advance the slider to about halfway, as Barb and Nadine appeared on the second half of the hour-long program.
[Oct 22, 2009 mem]
*In the News*
Stults Family Featured in
The Pointe
Newspaper
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| Brisan Stults (NPC) | Parker Stults (NPC) |
The Mike and Jennifer Stults family of Grain Valley, Missouri, was featured recently in their local newspaper. The article, "Strength of family endures despite nearly insurmountable odds," appeared in the The Pointe on October 6, focusing on the Stults' sons' battle against Niemann-Pick Disease Type C. Brisan and Parker, ages 5 and 3, respectively, were diagnosed with NPC a little more than a year ago.
Click the link above, or here to read the story.
[Oct 21, 2009 mem]
Dr. Patterson's Grand Rounds in Seattle
Video Posted
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| Marc C. Patterson, M.D. |
While in Seattle this past summer for the NNPDF Family Support and Medical Conference, Dr. Marc Patterson of Mayo Clinic was invited to present "Grand Rounds" at Children's Hospital, on the topic of Niemann-Pick Disease Type C. (Grand Rounds is a formal educational meeting at which physicians discuss the clinical case of one or more patients.)
Children's Hospital has posted a video of Dr. Patterson' presentation including his PowerPoint slides. Click here to view the video.
[Oct 19, 2009 mem]
"Compassionate Use"
Access to Investigational Drugs
FYI Article and NORD/FDA Podcast Now Available
The term "compassionate use" refers to the treatment of a seriously ill patient using a new, unapproved drug when no other treatments are available. Drugs that are being scientifically tested but have not yet been approved by the United States Food and Drug Administration (FDA) are called investigational drugs. Being able to use one of these drugs when you are not in a clinical trial specifically designed to study that drug has many names, but is most commonly referred to as compassionate use.
Given the recent discussions about access to cyclodextrin, we thought you might like to read more about compassionate access to drugs. Cate Walsh Vockley, the NNPDF's Coordinator of Education, Referral and Advocacy, has prepared an FYI article about compassionate use, including links to additional resources. You can read the FYI article posted here .
Also, the National Organization for Rare Disorders (NORD) and the FDA hosted a one-hour podcast on Oct. 16 on the FDA's new rules regarding patient access to investigational drugs. Visit the NORD Web site to listen to the podcast and to read the FDA's new rules.
[Oct 20, 2009 mem]
Leonard K. Whitehead
March 11, 1987 - September 5, 2009
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Leonard was born March 11, 1987, the son of Leonard and Peggy Whitehead. He was a member of the St. Joseph Catholic Church in Bonne Terre.
Leonard was preceded in death by his brother, Robert Whitehead (NPC); grandparents, Louis and Theresa Whitehead; and grandfather, Glenn Young. Leonard is survived by his parents, and brothers and sisters, James, Melissa, William, Stephen, Brian, Michael and Phillip Whitehead; and grandmother, Judith Young.
Our deepest sympathies go to the Whitehead family at this difficult time.
[Oct. 15, 2009 mem]
Proposed Legislation Would Protect Healthcare Coverage
for Rare Disease Clinical Trial Participants
Legislation currently under consideration by the U.S. Senate would allow patients with rare diseases to participate in clinical drug studies without losing their eligibility for public healthcare coverage.
Researchers often struggle to recruit participants for clinical trials because of limited patient populations. Current law prevents many people who receive Supplemental Security Income (SSI) from accepting research compensation because it would make them ineligible to continue receiving government medical benefits. This financial penalty prevents significant numbers of people with rare diseases from participating in clinical studies.
The "Improving Access to Clinical Trials Act" would remove financial penalties for participating in research studies. This legislation is supported by over 100 patient support and advocacy groups, including the NNPDF. You can track the bill and see the current list of co-sponsors here .
Please consider contacting your representatives and senators to show your support for this bill. Telephone numbers, email addresses and postal addresses are available here . If they have already signed on in support, be sure to thank them on behalf of the 30 million Americans affected by one of the nearly 7000 known rare and genetic conditions.
Click here to read more about the bill.
[Oct 14, 2009 mem]
FYI: Issues Regarding Curcumin Therapy in Niemann-Pick Disease, Type C Patients
Use of various supplements in NPD patients is routinely discussed by families and is a challenging issue. There is often little data on the use of supplements in children and teens, or even in adults, for that matter. There is also limited data on reasonable dosing and potential side effects.
One such supplement, curcumin, has been discussed over the last few months on the NNPDF list serv. There have also been concerns raised in the scientific community that higher doses of this compound are not as effective as lower doses, and in fact, may be toxic rather than being helpful to patients.
Although there is no current data on the use of curcumin in NPC patients, click here for a summary of the limited data on the use of curcumin. This information is not intended to be a medical directive or endorsement of the use of any product, but rather is for use by families as they consider the issue of curcumin supplementation for their affected family member.
[Oct 14, 2009 mem]
Rogers Family's Experience with Hospice
Covered by Keloland TV News
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Tristian Norton Rogers (NPA)
4/3/08 - 9/21/09 |
[Oct 13, 2009 mem]
U.S. and European Rare Disease Organizations Sign Strategic Alliance
The leading advocacy groups for those with rare diseases in the U.S. and Europe have signed a Memorandum of Understanding to join forces on several key strategic initiatives on behalf of rare disease patients and their families. The National Organization for Rare Disorders (NORD) and the European Organization for Rare Diseases (EURORDIS) announced this alliance with an "...intent to increase global awareness, promote research and the development of new treatments, and provide advocacy for more compassionate public policies."
Read the full press release here .
[Oct 7, 2009 mem]
October is National Niemann-Pick Disease Awareness Month!
Raising Awareness and Funding for Research
October has begun, the month designated as National Niemann-Pick Disease Awareness Month. This is the time when we make an extra push to educate the public, extended family and friends about Niemann-Pick Disease, the devastation it causes families, and the need for essential research.
For October 2009, the 8th Annual Niemann-Pick Disease Awareness Month, we are pulling out all the stops to raise awareness and funding which is so critically needed to ensure that one day, NPD will no longer be such a dire diagnosis. Check out the October Awareness page and the Current Fundraising Events page to see all that families around the country (and in Canada!) are doing to raise awareness and funds.
Here at the NNPDF office we have been busy supporting these families in their efforts, and we would like to encourage everyone to consider doing something in their local community to raise awareness. This can be as simple as sending a press release (which we can help you write or edit), or asking your local city officials to proclaim October as NPD Awareness Month (we have samples and can help you do this, as well). If you are more ambitious, it's not too late to launch a fundraising event. Check out the pages linked above for some great ideas, from the most simple to the more complex.
Watch your mailbox -- you should be receiving, if you haven't already, a letter from our office regarding the Lorna and Leon Tyrrell family and their inspirational "Perseverence" in the face of daughter Naomi's NPC. We have extra copies of the mailing -- if you have family or friends who are not already on our mailing list, we can send them a copy if you wish -- just contact us .
Thank you for all you are doing this month, and all year through, to help us raise awareness and funds for our all-important Quest for a Cure!
[Oct 6, 2009 mem]
NNPDF Representatives to Attend First International Meeting of
Niemann-Pick Disease Non-Profit Organizations
The First International Meeting of Niemann-Pick Non-Profit Organizations is being held October 8 - 11, in Scotland. This meeting has been jointly organized and sponsored by the NNPDF and the NPDG(UK). The purpose of this International Meeting is to enhance communication and representation among the organizations supporting those with NPD around the world. It is about exploring ways to share information and help speed up progress in care and in the understanding of Niemann-Pick Disease.
Collaboration will help maximize efforts and avoid duplication of work, in good stewardship of hard-earned resources. This International Meeting marks an important step in global collaboration and cooperation in the fight against NPD.
The NNPDF and CC-NNPDF will be represented by: Barb Vorpahl, NNPDF Board Chair; Karen Quandt, NNPDF Vice Chair; Tammy Vaughan, NNPDF Secretary and CC-NNPDF Chair; Lucy Liegghio, CC-NNPDF Vice Chair; and Nadine Hill, NNPDF Director of Family Services.
We are grateful for the generous support of educational grants from Actelion Pharmaceuticals and Genzyme Corporation.
[Oct 6, 2009 mem]
NIH Announces Funding of Rare Diseases Clinical Research Network
The National Institutes of Health (NIH) has formally announced the funding of the Rare Diseases Clinical Research Network, with 19 research consortia receiving support. Niemann-Pick Disease has the distinction of being the only group of diseases represented in two of the funded consortia: the Lysosmal Disease Network and the Sterol and Isoprenoid Diseases Consortium.
A press release detailing the announcement can be found at http://www.nih.gov/news/health/oct2009/od-05.htm .
Funding coming from the two Networks will support:
1. Dr. Marc Patterson's study of neuro-cognitive changes as possible early markers of NPC
2. Dr. Porter's work
a. to identify clinical and biochemical markers that can be used as outcome measures in clinical trials
b. to continue the natural history study
c. to develop better tools for diagnosing NPC
The NNPDF is recognized as a patient advocacy group affiliated with both of these consortia, and NNPDF staff will be involved in ongoing discussions of the research and plans for future work. In addition, I will serve as the Patient Advocacy Group representative on the Steering Committee for the Sterol grant and will be interacting with the 18 other advocacy group representatives.
At a meeting last Thursday and Friday in Bethesda, it was very gratifying to see how much the NIH has recognized the importance of involvement of the advocacy and support groups in moving the work of these consortia forward. Families do have a voice in these proceedings!
Congratulations to all the researchers for this recognition of their excellence!
Regards,
Cate
Cate Walsh Vockley, MS, CGC
Coordinator of Education, Referral and Advocacy
NNPDF
[Oct 6, 2009 mem]
NNPDF Annual Meeting Scheduled
Jan. 29 - Jan. 31, 2010
The 2010 Annual NNPDF Board Meeting will be held the weekend of January 29th - 31st, in Milwaukee, Wisconsin. The Foundation's annual board meeting is open to all members of the NNPDF. Please contact the NNPDF Central Office if you would like more information pertaining to the annual meeting.
[Sept 28, 2009 mem]
NNPDF Nationwide Online Auction Fundraiser
Bid from October 1st - 31st
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In conjunction with October Niemann-Pick Disease Awareness Month, the NNPDF is sponsoring its first nationwide online auction. Items already listed include trips, gift certificates, sports memorabilia, and more. Items will be added to the auction list as donations are received.
Families are being asked to donate items to the auction and to promote the auction to friends and relatives. The more items we have and the more bidders we can attract, the more money we can raise to support research and family support services. |
Please visit this page for more details about the auction and/or making a donation. View auction items and place bids
by visiting www.nnpdf.cmarket.com .
[Sept 24, 2009 mem]
Tristian Allen Norton-Rogers
April 3, 2008 - September 21, 2009
Tristian Allen Norton-Rogers, 17-month-old son of James and Sheila Rogers of Salem, South Dakota, passed away September 21st from the effects of Niemann-Pick Disease Type A.
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Tristian Allen Norton-Rogers (NPA)
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Tristian, known affectionately as "Bubba," loved having people talk and read to him, and going for walks and to the zoo. He enjoyed being outdoors and watching the trees move in the wind. He especially loved to talk to his daddy on the phone. Survivors include: his parents of Salem; brothers, Blaze Keller, Corsica and Christian Rogers, Jamestown, ND; and sisters, Jordan Keller, Salem, Harley Handrahan, Omaha, NE, Cherish Rogers, Salem, and Montana Rogers, Jamestown, ND.
All our love and sympathy go out to the Rogers family in this very sad time.
[Sept 25, 2009 mem]
Enzyme Replacement Therapy Clinical Trial (Type B)
Phase 1 Concluded
Results from Phase 1 of the Enzyme Replacement Therapy Clinical Trial (Type B) will be presented at the American Society of Human Genetics Meeting in October. Read the message from Dr. Margaret McGovern regarding the conclusion of Phase 1, and view the poster she and her team presented at the International Congress for Inborn Errors of Metabolism.
[Sept 14, 2009 mem]
2010 NNPDF Family Support and Medical Conference to be held in Toronto, Canada
Hello NNPDF Families and Friends,
It is official ~ the 18th Annual NNPDF Family Support and Medical Conference
to be hosted by our good friends to the north,
the Canadian Chapter of the
NNPDF, will be held in the beautiful city of Toronto, Ontario, Canada.
To see and learn more about all that this wonderful destination has to
offer, please visit the "See Toronto Now" web site:
http://www.seetorontonow.com/
The families of Tammy & Alan Vaughan and Lucy & Enio Liegghio, of the CC ~ NNPDF, have graciously stepped forward
to co-host this event in memory of
their precious children: Alex Vaughan (NPC ~ 04/18/88-12/23/92), Laura
Vaughan (NPC ~ 1/16/95-11/8/01), and Luke Liegghio (NPC ~ 5/5/97-6/10/05).
The Vaughans & Liegghios will work hand-in-hand with the Family Conference Committee of the NNPDF to develop a
meeting that will best meet the interests and needs of our family membership. The planning for this event
has begun in
earnest and we will forward information on a firm date and location announcement for the conference as soon as possible.
For those who like to get their family calendars in line early on ~ please
pencil in late July 2010 and/or early August 2010
as the most likely date options for this event.
We wanted to share the excitement over this Family Conference location site choice with all of our families and members
so that you too can join in the fun and begin planning your family trip for next summer!
In the interim, you may wish to visit our NNPDF Web site to view updates
from the wonderfully successful 2009 17th Annual NNPDF Family Support and
Medical Conference which was just held in Seattle, Washington, hosted by
the family of Karen & Gene Quandt, in honor of their son, Ty (Age 12, NPC).
/familyservices_03.html
This link includes two fun slide-show recaps and a link to the memorial video from this event. We are also working on
fine-tuning speaker recaps summaries and PowerPoint presentations so that we can post this information
for all of our members who weren't able to travel to Seattle and attend the conference in person.
Great thanks go out to the families who continue to step-up and assist the foundation with the planning of the annual
conferences ~ it is so greatly
appreciated.
Kind Regards,
Nadine
[Sept 10, 2009 mem]
Seasonal Flu and H1N1 Flu Information
Seasonal flu and the H1N1 flu are top-of-mind concerns for most everyone right now, especially families with members whose health may already be compromised by chronic illness.
Please visit our flu resources page for information about protecting your family from the flu, and for coping with it should a member of your family contract the flu despite taking precautions.
[Sept 10, 2009 mem]
Dillon Papier Celebrates 7th Birthday with the Baltimore Orioles
Benefit for NNPDF
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| Brian Roberts and Dillon Papier (NPC) |
Dillon Papier and a flock of family and friends attended the Baltimore Orioles game on Sunday, August 30, in celebration of Dillon's 7th birthday, and to raise funds in support of the NNPDF. Dillon loves baseball, so hanging out in the Orioles dugout with his pal, second baseman Brian Roberts, was no doubt his idea of a perfect day!
TV coverage of the game included this interview with Mark Papier , Dillon's dad.
Happy 7th birthday, Dillon!
[Sept 3, 2009 mem]
Free Online Seminar for Doctors and Clinicians
Diagnosis, Management & Treatment of Progressive Neurological Disease from Infancy to Adult
using Tay-Sachs Disease as a Model
Monday, September 21, 2009
1:00 - 5:00 p.m.
Susan Green, NNPDF Research Committee Chair, is pleased to forward information about this opportunity for neurologists, general practitioners, pediatricians, palliative and complex care pediatricians and physicians, psychologists, physical, occupational and speech therapists, nurses and others interested in improving differential diagnosis, clinical care and understanding of the family perspective.
NNPDF member families are invited to forward information about this free educational opportunity to their healthcare professionals and to encourage their participation.
The National Tay-Sachs & Allied Diseases Association and Brigham & Women’s Hospital are delighted to present a free seminar in Boston, also to be presented free online, for doctors & other clinicians to improve their diagnosis, management & treatment of progressive neurological disorders. The seminar will use Tay-Sachs as a teaching model from infancy to adult, which will conveniently also educate attendees about Tay-Sachs and related diseases.
The seminar will improve clinicians’ understanding of the family perspective, clinical care and diagnostic skills as well as provide CME credits. For more information including a list of presenters and the schedule, see the program brochure .
The in-person seminar will be held at Joseph B. Martin Conference Center at Harvard Medical School, 77 Avenue Louis Pasteur, Boston. Online participants should follow the link on www.ntsad.org on September 21st, at 1:00 pm. Advance registration is appreciated, but not required.
For further information, contact the NTSAD at [email protected] or 800-906-8723, or visit www.ntsad.org .
[Aug 27, 2009 mem]
New Resource Available from NNPDF
Dementia Booklet
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Dementia is something usually associated with older people. However, children, teenagers and young adults can experience dementia as a result of a number of rare diseases and conditions. Niemann-Pick Disease Type C (NPC) is an example of one of these diseases, and one of its main symptoms is dementia.
The NNPDF now has available a booklet for families, teachers and caregivers, explaining how dementia may be exhibited in the Niemann-Pick Disease patient, and offering practical tips for
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Contact the NNPDF if you would like to receive a copy of the booklet by mail.
[Aug 27, 2009 mem]
Dr. Peter G. Pentchev Honored at 2009 NNPDF Family Support and Medical Conference
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Peter G. Pentchev, Ph.D. |
In her presentation, NNPDF Board Chair Barb Vorpahl stated,
"Peter encouraged the families ... to take an active stance against this disease -- to become organized and start a foundation. So you might say he is the father of the NNPDF. He has guided us through the years, shared in our hopes and joys, and grieved deeply with our family and every family when yet another life was lost to this disease.
Peter was the force behind finding the gene for NPC in 1997…unlocking the key and pushing the door wide open in our understanding of this disease ….leading us to where we are today with promising therapies."
For more, click here .
Thank you for your dedication and support, Dr. Pentchev!
[Aug 19, 2009 mem]
Zavesca Officially Launched in United Kingdom
On July 21, 2009, Actelion Ltd. announced the launch of Zavesca® (miglustat) in the UK and Republic of Ireland; the first and only licensed treatment available for people with Niemann-Pick type C (NP-C) disease.
Ed Wraith, M.D., Royal Manchester Children's Hospital, commented: "For the first time we have an approved therapy for NP-C. The data on the effects of treatment with Zavesca® obtained in a clinical trial and in a retrospective cohort study consistently showed a favorable clinical response. As a treating physician I am acutely aware of the importance of reducing progression of neurological symptoms."
Zavesca®, which was granted orphan drug status allowing for a faster approval process, is now approved in all EU countries for the treatment of patients with NP-C and is available in all the EU countries according to the local reimbursement process. Regulatory proceedings to extend the use of Zavesca® in patients with NP-C are ongoing in other countries worldwide.
Click here to read the complete press release.
[Aug 19, 2009 mem]
U.S. Department of Health and Human Services Announces Confirmation of
Francis Collins as Director of the National Institutes of Health
Health and Human Services Secretary Kathleen Sebelius announced August 7th that the United States
Senate unanimously confirmed Dr. Francis Collins as the next Director of
the National Institutes of Health.
"Dr. Collins is one of our generation's great scientific leaders. A
physician and geneticist, Dr. Collins served as Director of the National
Human Genome Research Institute, where he led the Human Genome Project
to completion," said Secretary Sebelius. "Dr. Collins will be an
outstanding leader. Today is an exciting day for NIH and for science in
this country."
Bio for Francis S. Collins:
Francis S. Collins, M.D., Ph.D., a physician-geneticist noted for his
landmark discoveries of disease genes and his leadership of the Human
Genome Project, served as Director of the National Human Genome Research
Institute (NHGRI) at the National Institutes of Health from 1993-2008.
With Dr. Collins at the helm, the Human Genome Project consistently met
projected milestones ahead of schedule and under budget. This
remarkable international project culminated in April 2003 with the
completion of a finished sequence of the human DNA instruction book.
In
addition to his achievements as the NHGRI Director, Dr. Collins' own
research laboratory has discovered a number of important genes,
including those responsible for cystic fibrosis, neurofibromatosis,
Huntington's disease, a familial endocrine cancer syndrome, and most
recently, genes for adult onset (type 2) diabetes and the gene that
causes Hutchinson-Gilford progeria syndrome.
Dr. Collins has a longstanding interest in the interface between science and faith, and has written about this in The Language of God: A Scientist Presents Evidence for Belief (Free Press, 2006), which spent many weeks on the New York Times bestseller list. He has just completed a new book on personalized medicine, The Language of Life: DNA and the Revolution in Personalized Medicine (HarperCollins, to be published in early 2010).
Dr. Collins received a B.S. in Chemistry from the University of
Virginia, a Ph.D. in Physical Chemistry from Yale University, and an
M.D. with Honors from the University of North Carolina. Prior to coming
to NIH in 1993, he spent nine years on the faculty of the University of
Michigan, where he was an investigator of the Howard Hughes Medical
Institute. He has been elected to the Institute of Medicine and the
National Academy of Sciences and was awarded the Presidential Medal of
Freedom in November 2007.
[Aug 10, 2009 mem]
"It's Raining Hope in Seattle"
2009 Family Support and Medical Conference is a "Wrap"
The 2009 NNPDF Family Support and Medical Conference was held in Seattle, Washington, from Thursday, July 30, through Sunday, August 2. Families in attendance heard from researchers, doctors, therapists, inspirational speakers, and more, and were able to share hugs, tears, laughs and experiences with one other. Old friendships were rekindled and new friends were found. As you can see from the smiles on attendees' faces, the conference was a great experience and well worthwhile!
Many, many thanks go to Karen and Gene Quandt, and their host of friends, family, and supporters, who volunteered and helped make the conference a resounding success!
For a slideshow and more photos from the conference, click here .
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[Aug 6, 2009 mem]
California State Budget Cuts Threaten Availability of Care
Jessica Leoni and Family Featured in CNN Coverage
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Jessica Leoni |
Messages of support may be directed to the Leoni family via their Caring Bridge site.
[Aug 5, 2009 mem]
NPC Clinical Trial Opportunity
Message from Dr. Forbes "Denny" Porter, National Institutes of Health
The NNPDF has received an update from Dr. Denny Porter at the National Institutes of Health regarding an upcoming NPC Clinical Trial opportunity. Please click here to read Dr. Porter's message.
We encourage anyone with questions about the study to contact Nicole Yanjanin at Dr. Porter’s office: 1-301-594-1765; [email protected] .
Dr. Porter plans to present more details related to this trial at our upcoming NNPDF Family Support and Medical Conference in Seattle, Washington, July 30 - Aug. 2. Please contact the NNPDF Central Office if you need assistance registering or finalizing your travel plans for the NNPDF Family Conference.
[July 9, 2009 mem]
In the News
Updates on
OrphaNews
Newsletter of the Rare Diseases Task Force
Visit OrphaNews Europe to read the following updates:
National and International Policy Developments: A Canadian province adopts rare disease drug evaluation programme.
Ethical, Legal and Social Issues: An international expert group reiterates the need to adhere to guidelines for stem cell clinical applications.
[July 13, 2009 mem]
Papers Published in Cell Metabolism Journal
Dr. Heiko Runz of the University Clinic - Heidelberg (Germany), has a paper titled "Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening" published in the July 2009 issue of Cell Metabolism .
Read the announcement here: http://www.eurekalert.org/pub_releases/2009-07/embl-sic070609.php
The full text of the paper is available here: http://www.cell.com/cell-metabolism/fulltext/S1550-4131(09)00157-0
This research was funded in part by the Ara Parseghian Medical Research Foundation.
In the same issue of Cell Metabolism is an article by Drs. Munkacsi, Pentchev and Sturley:
Spreading the Wealth: Niemann-Pick Type C Proteins Bind and Transport Cholesterol
[July 13, 2009 mem]
In the News
Judy Desouza Named to Cambridge Who's Who
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Judy Desouza |
Judith Desouza, Distribution Planner for BIC Consumer Products USA, has been recognized by Cambridge Who's Who for showing dedication, leadership and excellence in all aspects of her career. Judy is an active member of the NNPDF and the mother of Bryanna Desouza (1992 - 2006) (NPC).
To read more about it, visit Cambridge Who's Who.
Congratulations, Judy!
[July 7, 2009 mem]
Bridal Couple Honors Memory of Bride's Brothers
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Stephanie and Andrew Brown
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In lieu of wedding favors for their guests, this couple made a donation to the NNPDF in memory of the bride's brothers, Jeffery and Zachary Yates, both lost to Niemann-Pick Disease Type C.
For more details about this thoughtful donation, visit our Recent Events page, where you can see the many ways families across the country are raising awareness of Niemann-Pick Disease and funds for research into treatments and a cure for NPD.
[June 26, 2009 mem]
In the News
Two families affected by Niemann-Pick Disease have been in their local news lately, raising awareness and funds in the fight against NPD.
The Ryan Richardson Memorial American Legion Post 75 Poker Run will be held Saturday, June 27, in Crestview, Florida. Click here for a Crestview News Bulletin story by Kyle Wright about this event to raise funds in support of the NNPDF.
The Sanda family's fight against NPD was covered by the Merced Sun-Star in this article by Corinne Reilly.
[June 25, 2009 mem]
Considering Participating in a Research Study or Experimental Therapy?
Research Studies -- Occasionally, NNPDF member families are approached for participation in a research study. Although opportunities for such participation may, from time to time, be posted by NNPDF Staff on the listserv or Web site, the NNPDF will only recommend to its members a research study that has been reviewed by the NNPDF Research Committee and Scientific Advisory Board. This group of individuals works diligently to ensure that research studies are conducted in a way that provides you, the family affected by Niemann-Pick Disease, with all of the protections required by law.
We understand that not everyone will participate in all studies, but we certainly encourage you to consider the possibilities, gather information and make decisions that are right for you and your family. The NNPDF will never release the names or contact information of members to researchers or other groups.
As always, the NNPDF Staff is available to help if you have questions about any aspect of the services provided to the membership. This includes information about research studies that are offered. Please feel free to contact us at any time with questions and comments. We are here for you!
Experimental Therapies -- Our Web site has resources that may be helpful if you are considering trying experimental therapies or alternative approaches to treatment of your child(ren). These resources are designed to assist you in thinking about both the risks and benefits of interventions that are experimental in nature. Please visit this page to learn more.
[June 23, 2009 mem]
NNPDF Summer 2009 Newsletter
Coming to a Mailbox Near You!
The NNPDF 2009 Summer Newsletter is hot off the presses, ready to update you on the Foundation's Family Services Program, Research Program, Family Support and Medical Conference, etc. Watch your mail in the near future for your copy.
If you are not currently receiving the NNPDF newsletter and would like to join the mailing list, please contact us with your mailing details.
Want a sneak peek? Look here .
[June 19, 2009 mem]
Israel Lujan Macareno
08/22/98 ~ 06/09/09
We received word today that young Israel Lujan Macareno of New Jersey lost his brave battle with Niemann-Pick Disease Type C. There is no greater heartache than the loss of a child. All the members of the foundation send along our deepest sympathies to his family and loved ones.
Our hearts are breaking with you as you gather to remember this wonderful young boy.
[June 12, 2009 ~ nmh]
Bowie Baysox Event In the News
The Mark and Darrile Papier family recently hosted "Dillon Papier Baseball Day" with their local hometown Bowie Baysox baseball team in honor and support of their son, Dillon (age 6 ~ NPC). The event raised funds for the fight against Niemann-Pick Disease, and marks the fourth year that the team has participated in the fundraiser.
The sports editor from the Bowie Blade-News, Jake Linger, attended the event and wrote two follow-up articles. The first is titled, "Fourth Annual Dillon Papier Day in Bowie," and highlights the background of the event, the Papier family and how they became involved with this fundraiser.
The second article, an editorial , challenges the community and citizens of the Bowie area to "step up to the plate" and make an effort to have a bigger impact on this young boy's life, and to join with his family as they fight to raise awareness and funds into a cure for NPD. Mr. Linger voices his perspective on how he feels we should look at rare diseases and his challenge should act as a beacon of hope for all the families of the NNPDF.
Mr. Linger noted, "Dillon Papier Day is also a way to educate Baysox fans on Niemann-Pick. The disease afflicts only 500 people worldwide and Dillon is one of them. It's sad. Granted, this is sad. But if this disease afflicts just 500 people on the globe, why worry about awareness? Let's see, cancer at one time only affected 500 people on Earth. I'm sure the common cold once was only had by about 500 people on Earth. It becomes very clear to me that this planet is going into the toilet rather quickly, whether you believe global warming or not, and more and more diseases - heard of SARS or the swine flu? - are popping up and we are forced to research it all and come up with cures or vaccines. By the way, there was news this weekend that a vaccine for cancer may have been found. It would not prevent folks from getting cancer, but it would treat the disease. If this turns out to be the remarkable breakthrough for which mankind has been waiting, it wasn't luck that got us here. Try awareness and contributions and government funding."
Thank you to Jake Linger for this challenge and for helping to raise awareness about Dillon and NPD and the work of his family.
Nadine
You can also read the Bowie Blade-News article that ran prior to the Bowie Baysox event. This flyer was used to promote the event throughout the community.
Many thanks to the Papiers and their extended family and many friends for their continued support of the NNPDF in honor of Dillon!
[June 8, 2009 mem]
NIH Announces New Program to Develop Therapeutics
for
Rare and Neglected Diseases
The National Institutes of Health is launching the first integrated, drug development pipeline to produce new treatments for rare and neglected diseases. The $24 million program jumpstarts a trans-NIH initiative called the Therapeutics for Rare and Neglected Diseases program, or TRND.
For a progam overview and links to more information at the NIH website, please see:
NIH Program: Therapeutics for Rare and Neglected Diseases
A note of congratulations to Cindy Parseghian of the
Ara Parseghian Medical Research Foundation
The NNPDF wishes to send out a note of congratulations to Cindy Parseghian of the APMRF, upon the award of an honorary doctorate of science from her alma mater, Notre Dame. Cindy was honored at the University's Commencement address held on Sunday, May 17th, on the Notre Dame Campus. Cindy's recognition came in light of her work on behalf of research into Niemann-Pick Disease Type C. Cindy was able to share the stage during the commencement ceremony with the principal speaker, President Barack Obama.
Listed below is a portion of the presentation addressing Cindy's work and accomplishments:
Cindy Parseghian (doctor of science)-A 1977 Notre Dame graduate, Cindy Parseghian serves on the University's College of Science Advisory Council. Along with her husband, Michael, she is cofounder of the Ara Parseghian Medical Research Foundation, which they started in 1994 in an effort to find a cure for Niemann-Pick Type C disease, a rare and fatal genetic disorder that struck three of their four children. The foundation is named in honor of the children's grandfather and Notre Dame's legendary football coach. Cindy is president of the foundation, which has raised more than $33 million to help scientists identify the gene responsible for the disease and develop therapies to help the children affected.
http://commencement.nd.edu/commencement-weekend/honorary-degrees/
There is also a video of the full commencement on the Notre Dame University Web site at: http://commencement.nd.edu/commencement-weekend/commencement-videos/ (If you move the video cursor to a little less than half way through the video length ~ the honorary doctorates are presented just prior to President Obama's introduction and speech.)
Cindy, what an honor to be able to watch this moment and share such a special acknowledgement with you and your family. Congratulations on receiving this prestigious honor on behalf of your unwavering efforts towards research and a cure into NPC and in memory of your precious children, Michael, Marcia and Christa.
[May 18, 2009 nmh]
Fundraising Assistance and Tips
As we move into the summer and warmer weather, many families are planning and conducting fundraising and awareness events. We can help you with ideas for fundraisers, guidance, publicity, brochures and newsletters, and various NPD products.
See these NNPDF publications for valuable information and tips to help you get started:
NNPDF Fundraising Packet Guide to Getting Media Coverage
Bright, attractive signage is important for bringing attention to fundraising or awareness events. One of our member families can make high-quality, heavyweight vinyl banners with the colorful NNPDF rainbow swoosh logo and one line of personalization -- perfect for your next event! Click here for a picture and all the details. Contact the NNPDF at [email protected] if you are interested in ordering a banner.
We have available many NPD products that you can sell as fundraisers or use as thank you gifts for volunteers and donors. Lorna Tyrrell has recently added reusable Persevere Shopping Bags to her line of Persevere Wear . The bags are just $3 each, or 2 for $5. Click this link to see more Persevere Products .
If you would like, we can help you write a press release for your event. Please complete this Press Release Information Form and return it to the NNPDF several weeks prior to the event.
Please remember to have all donations made out to NNPDF rather than to an individual. There was an unfortunate incident in which a third party claimed to be raising funds for the NNPDF, but never turned in the proceeds to the foundation, resulting in criminal charges. The silver lining is that the community, upon hearing about this, has come forward to support the fight against NPD. You can learn more about this community outpouring of support here: Making-A-Difference
Please contact us if we can be of any assistance as you plan your fundraiser! We appreciate all our families do to advance the Quest for a Cure!
[May 19, 2009 mem]
Update from Genzyme: Completion of Phase 1 Clinical Trial
Genzyme is pleased to announce that its Phase 1 clinical trial of recombinant human acid sphingomyelinase (rhASM) as a potential treatment for Acid Sphingomyelinase Deficiency (ASMD, Niemann-Pick Disease Type B) was completed in April 2009. The main purpose of this trial was to evaluate the safety of different doses of rhASM in adults with ASMD. A total of eleven patients were treated with single doses of rhASM ranging from 0.03 mg/kg up to 1 mg/kg administered intravenously. The trial took place at Mt. Sinai Medical Center in New York City.
The results of this trial have given an indication for the best ways to administer the drug intravenously to patients and effectively monitor for potential side effects. Genzyme is completing the Phase 1 data analyses and preparing for a Phase 2 trial that is expected to begin in 2010 and will likely involve giving repeat doses of rhASM. Genzyme plans to disseminate key findings from the Phase 1 trial as they become available.
Completion of the Phase 1 trial marks an important, hard-earned, and long-awaited milestone for the Niemann-Pick B disease community. Our sincere appreciation goes to all the patients who participated in the trial and their families. Genzyme thanks Drs. McGovern and Wasserstein at Mt. Sinai for their leadership of the trial and Jessica Cristian and Erin Starrett for managing data collection activities.
Congratulations to the Niemann-Pick community on achieving this important milestone.
Betsy Bogard
Associate Director, Program Management
Genzyme Corporation
500 Kendall Street
Cambridge, MA
02142
e-mail:
[email protected]
www.genzyme.com
For more information pertinent to the Phase 1 Clinical Trial visit /npresearch_11.html
[April 30, 2009 nmh]
New Resource Regarding Experimental Therapies
Recently, there has been more discussion on the listserv and elsewhere about experimental therapies for Niemann-Pick Disease. Some of these therapies are being used in the setting of formal clinical trials, while others are not. In either case, families are faced with considering whether a therapy is right for their affected family member.
Because of this, we have developed a new information sheet for you to use as you think about these issues. It is called "For Your Information - Thinking about Experimental Therapies." Eventually we hope to have a number of these "FYI" documents and they will have a permanent home on the site.
For Your Information: Thinking about Experimental Therapies.
In addition, please note the UK publication from Sense About Science ( www.senseaboutscience.org.uk ) called "I've Got Nothing to Lose." It is noted in the FYI document, but deserves separate mention. It is a very well-written consideration of issues related to use of experimental therapies. Many of the resources listed in the booklet are in the UK, but by contacting the Foundation Office or the NNPDF Coordinator of Education, Referral and Advocacy , similar US resources can be identified.
[April 7, 2009 cwv]
Niemann-Pick Disease Featured in
The
Wall Street Journal
and on Good Morning America
Chris Hempel, with her daughters Addi and Cassi (NPC ~ age 5)
Niemann-Pick Disease is the subject of a Wall Street Journal article, titled: "A Mom Brokers Treatment for Her Twins' Fatal Illness." The article dated April 3, 2009, features the diligent efforts of Chris Hempel, of Reno, Nevada.
Chris and Hugh Hempel are the parents of 5-year old identical twins, Addi and Cassi, who are affected by Niemann-Pick Disease Type C. Due to her tenacity, research is moving forward as she searches for an effective treatment for her precious little girls.
Click here to read The Wall Street Journal article
The Hempel Family was also featured in recent television news stories on Good Morning America and a local story in Oakland, California. Congratulations, Hempels, on your successful efforts on behalf of your daughters and all affected by Niemann-Pick Disease!
Click here to view the KTVU (Oakland, CA) clip featuring the Hempel family
[April 3, 2009 nmh]
Niemann-Pick Disease Featured on CBS National News
Mark and Darrile Papier with their son, Dillon (NPC ~ age 6)
Niemann-Pick Disease was the subject of a CBS Evening National News
segment which aired March 1st, 2009, featuring the Papier family of Frederick,
Maryland.
Mark and Darrile Papier are the parents of Dillon, age 6, who is affected
by Niemann-Pick Type C. The Papiers are members of the NNPDF,
and Darrile recently joined the Foundation’s Board of Directors.
Click here to view the CBS Evening News Segment
[March 2009 nmh]
CTV Calgary
Television News Coverage
Who Inspires U?
Mariarosa Martino and her friend, Marchella Mafrica, garnered television coverage via a Calgary, Canada, news program. Mariarosa has NPD Type B and is a strong supporter of the Canadian Chapter of the National Niemann-Pick Disease Foundation. Click the link below to read about the story and to see a copy of the video.
(The link to the video is in the center of the page titled: “Sage Pullen talks to a young woman with a rare disease.”)
Also, Mariarosa’s friend Marchella is in a contest titled: Who Inspires U? Her video about their lifelong friendship is in the top 20 and there is an opportunity to win a grand prize of $10,000. If her video wins (by getting the most votes), Marchella plans to donate the funds for research into Niemann-Pick Disease……please vote today and daily until the end of the month of March at:
http://www.whoinspiresu.ca/whoinspiresu/whoinspiresu.html
Choose video #11 and vote for Marchella Mafrica.
Thank you to these two young women who, in their support of each other and their ongoing friendship, are an inspiration to us all!
[March 13, 2009 nmh]
Latest
Research Highlights from the NNPDF Research Committee
and our Scientific Advisory
Board Chair, Dr. Dan Ory, MD
Learn about the latest work being done in research laboaratories around the country and internationally via this update from our Scientific Advisory Board (SAB) Chair, Dr. Dan Ory, MD of the Washington University School of Medicine.
Research
Updates and Highlights ~ February 2009
[March 9, 2009 nmh]
Niemann-Pick
Disease in the National News
Your Assistance
is Needed!
Niemann-Pick Disease was the subject of a CBS News segment which aired
March 1st, featuring the Papier family of Frederick, Maryland.
Mark and Darrile Papier are the parents of Dillon, age 6, who is affected
by Niemann-Pick Type C. The Papiers are members of the NNPDF, and
Darrile recently joined the Foundation’s Board of Directors.
To view the segment, visit
http://www.cbsnews.com/video/watch/?id=4836925n&tag=main_home_MediaBox
.
Please view the link, post your comments, and forward the link
to your family and friends. Our goal is to make Dillon’s
segment the most-viewed story on the CBS Web site.
If enough interest is shown in the segment, perhaps CBS will do a more in-depth story and help raise awareness of our quest for a cure.
Great job, Mark and Darrile, for telling the
NPD story so well!
[March 2, 2009 mem]
Rare Disease Day ~ February 28, 2009
The main objective of Rare Disease Day 2009 is to raise awareness with policy makers and the public of rare diseases and of their impact on patients’ lives. See how you can take action on February 28th, 2009 in support of NPD families and their loved ones.
Rare diseases are chronic, progressive, debilitating, disabling, severe and often life-threatening. Information is scarce and research is insufficient. People affected face challenges such as diagnosis delay, misdiagnosis, psychological burden and lack of practical support. Many rare disease patients are denied their right to the highest attainable standard of health
and continue to advocate their need to overcome common obstacles. www.rarediseaseday.org
How Can NPD Families Get Involved?
In support of
February World Rare Disease Day to be held on February 28th, 2009 ~ two
special internet/web communication links have been established to help
our families "spread the word" about this Global Rare Disease
Day by friends of the foundation. Here is how it works:
Since learning about Global Rare Disease Day, I started thinking about
what we could do in the social media space to draw attention to Rare
Disease Day 2009. Since any public mention of rare diseases is, by definition,
a way to make them less rare, a few of us developed a very simple Web
page (
http://retweet.us/
) and twitter
presence (
http://twitter.com/raretweet
)
with the intention of drawing attention to the day within the twitter
social networking community.
We're calling the initiative the #Rare Project. I'm not sure how familiar
you are with how twitter works so the premise of what we're doing might
seem confusing at first, but the Web page should help explain things.
If you read the copy, you'll also notice a reference to Niemann-Pick
as one example of a rare disease.
Please check out:
http://retweet.us/
~
the #Rare Project @ Rare Tweet and
http://twitter.com/raretweet
~
Rare Tweet using Twitter.
Begin using these links and sharing this information by forwarding this
page on to your family, friends and classmates and encourage them to
do the same.
Working together we WILL PERSEVERE in our quest for a cure for Niemann-Pick
Disease.
Thank you for your continued support of this effort.
[February 20, 2009 nmh]
**FAMILY NOTIFICATIONS**
Timothy Quandt
July 11, 1986 ~ February
20, 2009
It is with deep sadness and a broken heart that
I pass along news regarding the unexpected and untimely death of Tim
Quandt, loving son of Karen and Gene Quandt and "big brother extraordinaire" of
Ty Quandt (NPC ~ age 12).
Tim, age 22, died tragically over the weekend due to an accident at his
home.
Tim was a student enrolled at the University
of Washington ~ Tacoma and was studying the field of Environmental Sciences.
He had a special interest and strength in the area of chemistry. Tim's
first love was theatre and film -- "all that is theatre." He
spent countless hours videotaping and editing his own home movies and
documentaries, taking special pride in creating an adventure starring
his younger brother, Ty, with his favorite vice...gorillas!!
His family has planned a service in celebration of his life to be held
this Saturday (02/28/09) from 3-4pm at Point Defiance Lodge in Tacoma,
WA with a social gathering to follow the presentation.
Tim's family has asked that in lieu of flowers, donations be made to
create a student scholarship in his name. You may contact the family
at:
Karen and Gene Quandt; 4718 129th Avenue, East; Edgewood, WA 98732
Karen, Gene and Ty wish to thank all for the kind messages, notes and
contacts of support that they have received from the NNPDF community
thus far. They have indicated that they can feel all of the loving and
supportive embraces being sent their way.
Note: Karen was recently elected to the position of Vice-Chair for the
NNPDF board of directors. In addition, the Quandt family will host the
NNPDF Family Support and Medical Conference slated for this summer in
Seattle, Washington.
[February 25, 2009 nmh]
**FAMILY NOTIFICATIONS**
Leslie Barnette Overstreet
Hayes
March 22, 1973 ~ February
20, 2009
We received word that Leslie Barnette Overstreet Hayes, 35, of Jackson, Alabama, died Feb. 20, 2009, at a Mobile hospital. A native of Mobile, Leslie was born March 22, 1973. She was a member of Perry's Chapel United Methodist Church in Gainestown. Survivors include her husband, William Franklin Hayes III, of Jackson; and one daughter, Katie. She is also survived by her parents, Deanna and Ronnie Overstreet, of Gainestown, Alabama.
Leslie fought a brave and gallant battle all of her life
against the life-limiting disease known as Niemann-Pick Disease Type
B. Her extended family at the National Niemann-Pick Disease Foundation
grieve along with her loved ones at the loss of such a beautiful and
vibrant young woman, mother, wife, daughter and friend. She will
truly be missed.
[Feb 24, 2009 nmh]
**FAMILY NOTIFICATIONS**
Melanie Dawn Walters
September 13, 1973 - January
14, 2009
We received word that Melanie Dawn Walters (NPC), of Lumberton, North Carolina, passed away at the age of 35 years. She was the daughter of Bruce and Wanda Allen Walters. Melanie was a 1991 graduate of Littlefield High School and a member of Antioch Baptist Church. She served as a teacher's assistant with the Public Schools of Robeson County. Surviving are her parents; a sister, Rhonda Walters; maternal grandmother, Mary L. Allen; paternal grandmother, Mary Nell Walters; and a cousin, Dianne Wilkins. Memorials may be made to the NNPDF.
[Feb 13, 2009 mem]
Zavesca (Miglustat) Receives EU Approval
Actelion Ltd announced that Zavesca (miglustat) has been approved in the European Union for the treatment of progressive neurological manifestations in adult patients and pediatric patients with Niemann-Pick Type C disease (NPC). Zavesca is the first treatment to be approved for patients with NPC. To read the full release, click here .
**NNPDF Newsletter**
The latest issue of the NNPDF newsletter is out, full of the accomplishments made through the perseverance and collaboration of NPD families and supporters. The newsletter is available as a PDF for online viewing here: NNPDF Newsletter
Print copies of the newsletter were mailed out to NNPDF members and supporters. Additional copies are available for use at fundraisers and educational events. If you would like to help raise awareness of Niemann-Pick Disease, just contact our office at [email protected]..
[Jan 8, 2009 mem]
**NNPDF Annual Meeting**
The 2009 Annual NNPDF Board Meeting will be held the weekend of February 6 - 8, in Milwaukee, Wisconsin. The Foundation's annual board meeting is open to all members of the NNPDF. Please contact the NNPDF Central Office if you would like more information pertaining to the annual meeting.
[Jan 8, 2009 mem]
"It's Raining Hope in Seattle"
2009 Family
Support and Medical Conference
Thursday,
July 30th - Sunday, August 2nd, 2009
Seattle,
Washington
Doubletree Guest
Suites
Hosts for the NNPDF 2009 Family Conference, Karen and Gene Quandt, together with conference team members, have begun planning an event to address the needs of our families, including the opportunity to learn the latest on research and treatments for NPD.
Conference attendees will also have the opportunity to see such attractions as the Space Needle, the beauty of the Puget Sound Region, the majestic Cascade Range and the towering, volcanic Mount Rainier.
Mark your calendar and make plans to join us in Seattle this summer!
Family Conference Postcard Side 1 Family Conference Postcard Side 2
NNPDF Member Families -- Watch your mail for more details about the conference.
Click here to make your hotel reservations with Doubletree Guest Suites in Seattle as part of the NNPDF block of rooms..
[March 25, 2009 mem]