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The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) is a sister chapter to the National Niemann-Pick Disease Foundation (NNPDF) (U.S.) and receives administrative support from the NNPDF. Money raised through the CCNNPDF is invested in Niemann-Pick Disease research through the NNPDF's research program with guidance from the NNPDF's Scientific Advisory Board (SAB), Board of Directors, and Research Committee. This partnership helps eliminate redundancy and maximizes the impact of research dollars. (Tammy Vaughan, chair of the CCNNPDF, serves as secretary of the NNPDF, and is on the NNPDF's Research Committee.)

The research funded by the NNPDF is made possible in great part due to the efforts of our NPD families and their extended support network via local community-sponsored events. The NNPDF is truly grateful for this support.

In 2014, the National Niemann-Pick Disease Foundation Board reviewed its research funding strategy and has produced a new strategic plan for research. Account was taken of the needs of our Membership; current knowledge in the field of Niemann-Pick Disease; the funding strategies of other NPD organizations; and the advice and expertise of the members of the NNPDF's Scientific Advisory Board.

As a result we are pleased to announce that the NNPDF will fund Pre-Doctoral, Post-Doctoral and Early career investigator fellowships in all areas of promise - basic, translational and clinical research- with regards to Niemann Pick Disease.

The NNPDF strives to enable promising new researchers to make a career in the field of Niemann-Pick Disease, thus providing for a new generation of scientists to accelerate the pace of NPD research.

"The NPD community is one of the most collaborative there is. The level of idea/data sharing among scientists is remarkable. We are also a model for other rare disease with respect to our ability to accelerate work at the bench to therapeutics. And much of this had been made possible by the family-researcher partnerships that have sustained this work over the past 20 years." - Dr. Dan Ory, Current NNPDF Scientific Advisory Board member & past SAB Chair (Sept. 2007 ~ Jan. 2014)

A key element to the foundation research strategy for both the NNPDF & CCNNPDF is the ability to track funds raised within the communities of our family membership.  Great care is given to identify monies received at the NNPDF & CCNNPDF Central Offices through family fundraising efforts so that a specific designation by disease type and a restriction towards research can be made.  The NNPDF & CCNNPDF are proud to ensure our NPD family membership that 100% of the funds raised through their community events are directed towards NPD research! 

Sept. 12, 2014 ~ nmh


Glossary of Terms:

EMA                       European Medicines Agency (European equivalent of FDA)
ERT                       
Enzyme Replacement Therapy
FDA
                        United States Food and Drug Administration
HDACi                     Histone Deacetylase Inhibitors
ICV                          Intracerebroventricular
IND                          Investigational New Drug
i-IND                        Individual Investiational 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


Research Grants jointly sponsored by the CCNNPDF & NNPDF
Fellowships jointly sponsored by the CCNNPDF & NNPDF
Clinical Research and Services funded by the NNPDF

 

NNPDF Research Committee Chair's Updates and Reports

Contact the NNPDF Research Committee through the NNPDF Central Office.


Vtesse, Inc. Announces FDA’s Granting of Breakthrough Therapy Designation for
VTS-270
(2-hydroxypropyl-β-cyclodextrin) in Niemann-Pick Type C1 Disease

Dateline: 01/06/2016

Vtesse

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to share with our NPC Community Members that the Food and Drug Administration (FDA) has granted VTS-270 (2-hydroxypropyl-β-cyclodextrin) a Breakthrough Therapy Designation. The FDA Breakthrough Therapy designation is designed to expedite the development and review of drugs within the FDA regulatory process.

This designation is granted by the FDA when the preliminary clinical data indicates that the drug may demonstrate substantial improvement on clinically significant endpoint(s). The Breakthrough Therapy designation is distinct from the FDA’s other mechanisms to expedite drug development and review, and will allow for a close collaboration between Vtesse and the FDA on the VTS-270 (2-hydroxypropyl-β-cyclodextrin) development program.

Both the FDA and the European Medicines Agency (EMA) had previously granted Orphan Drug status to VTS-270, which is currently in a pivotal Phase 2b/3 clinical trial. For additional information regarding VTS-270 (2-hydroxypropyl-β-cyclodextrin) clinical trial, visit Vtesse's website.

Click here to Read the Press Release dated Jan 6th, 2015


Recording & Slides of Dec. 14th Webinar Now Available

In addition to the above press release, the NNPDF Central Office recently obtained the Webinar recording and slides associated with the Vtesse “Town Hall” Webinar hosted for the NPC patient community on December 14th, 2015.

Click here for the Webinar Recording & Slides

[Jan 6th, 2016 ~ blg]

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Banner

NPC Vtesse Clinical Trial & Central Office Updates

Dateline: Dec 21st, 2015

 

Dear NNPDF Family & Friends,

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to be able to share with our NPD community families updates associated with the following:

  • Vtesse VTS-270 NPD Type C Clinical Trial UPDATES
  • NNPDF Equipment Exchange Program and NEW posted items

 

Click here to view the NNPDF e-Blast

[Dec 21st, 2015 ~ blg]

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Register for Webinar on VTS-270 (2-hydroxypropyl-β-cyclodextrin) for NPC
Dateline: 12/07/2015

Vtesse


Register:  US and Canadian Audience, 12:30 PM EST*, December 14, 2015
https://attendee.gotowebinar.com/register/7538191617966914050

*9:30am Pacific, 10:30am Mountain, 11:30am Central, 12:30pm Eastern

Dear NNPDF Niemann-Pick Type C (NPC) Family Members,

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to be able to share with you an opportunity to attend a town hall webinar hosted by Vtesse, Inc. with regards to the VTS-270 (2-hydroxypropyl-β-cyclodextrin) clinical trial for Niemann-Pick Disease, Type C (NPC). 

Please join Vtesse on December 14, 2015 where Dr. Paul Gissen and Dr. Elizabeth Berry-Kravis will be providing an update on the clinical trial and will be available to address your questions. Vtesse is committed to keeping the community fully informed and soliciting feedback as they move through the clinical trial process. 

Visit the Vtesse Clinical Trial page to read the full post and for more information on registering for the webinar: http://www.nnpdf.org/Vtesse.html#Dec072015

Sincerely,

Nadine M. Hill

Executive Director
National Niemann-Pick Disease Foundation

Vtesse Phase 2b/3 Clinical Trial Historical Timeline can be viewed: http://www.nnpdf.org/Vtesse.html
NIH Phase 1 Clinical Trial Historical Timeline can be viewed: http://www.nnpdf.org/Cyclodextrin.html

[Dec 7th, 2015 ~ blg]

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NPD Current Clinical Trial Recruiting Update ~ e-Blast

blast

Dear National Niemann-Pick Disease Foundation (NNPDF) Family Membership,

The NNPDF Central Office is working diligently to ensure that our entire NPD membership community is aware of the various clinical trial opportunities available for those seeking innovative therapeutic options for Niemann-Pick Disease. With this in mind, the foundation is providing an update and links to updates which we have received from the three pharmaceutical companies currently moving forward with clinical trial opportunities for NPD patients.

To view the e-news Blast with the updated information dated November 11th, 2015, click here

[Nov 11th, 2015 ~ blg]

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Vtesse, Inc. Expands Scientific Advisory Board and Appoints new VP of Clinical Operations to Support Late-Stage Clinical Study of Lead Drug Candidate VTS-270
Dateline: 10/22/2015

Vtesse

Dear NNPDF Type C Families and Friends,

The NNPDF Central Office is pleased to share with our NPC Community a Press Release from Vtesse regarding a new addition of Elizabeth Berry-Kravis, M.D., Ph.D. to the Scientific Advisory Board for Vtesse and Michael Massaro as the new Vice President of Clinical Operations.

These new additions to Vtesse will enhance the team that is working to advance the clinical study of VTS-270 for Niemann-Pick Disease Type C. 

Click here to view the full Press Release Vtesse dated October 22, 2015

[Oct 23rd, 2015 ~ blg]

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Genzyme

Dear NPB Families,

At the 23rd Annual NNPDF Family Support and Medical Conference held in Chicago, Illinois, some individuals of the NPB community were able to take part in the Patient Reported Outcome.  Please follow the link below to read what participants in this Patient Reported Outcome had to say.  They are currently looking for caregivers of our pediatric NPB community to take part in this interview.  

Click here to view the full post: http://www.nnpdf.ca/npresearch_11.html#Genzyme10222015

Thank you for your help!

[Oct 22nd, 2015 ~ blg]

Div

Bio Report Podcast Featuring Ben Machielse from Vtesse, Inc.
Dateline: 10/06/2015

Vtesse

Dear NNPDF Type C Families and Friends,

Last week, Ben Machielse, President and CEO at Vtesse, had an opportunity to sit down with Daniel Levine for a segment featured on the Bio Report Podcast.   The Bio Report Podcast focuses on the intersection of biotechnology with business, science, and policy.

Ben was able to focus on the progress made in their clinical development program associated with the Phase II/III for VTS-270 a modified form of cyclodextrin.   We are sharing the link for you to listen to the audio recording of the pod cast below:

Rare Disease Drug Developer Shows Speed of Business Model

[Oct 6th, 2015 ~ blg]

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Vtesse, Inc. Initiates Phase 2b/3 Clinical Trial of VTS-270 for Treatment of
Niemann-Pick Type C1 (NPC) Disease

Vtesse

Dear NNPDF NPC Patient and Family Community~

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to advise our Niemann-Pick Disease Type C patient & family community that Vtesse, has received FDA authorization to begin recruiting for the Cyclodextrin / VTS-270 clinical trial for patients in the United States, diagnosed with NPC1, who fall within the age range of 6 to 21 years.

Please click below to access the letter and press release!

Vtesse Press Release is at: http://www.nnpdf.org/documents/092815Vtesse_Ph2_3trialstartreleaseFINAL_Complete.pdf

You can find all information regarding historical information about Vtesse and the VTS-270 clinical trial at http://www.nnpdf.ca/Vtesse.html.

If you have any questions, as always, contact the NNPDF Central Office at: nnpdf@nnpdf.org.

[Sept 28th, 2015 ~ blg]

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"For a Rare Disease, Drug Trials Scramble for Patients"
A Wall Street Journal Article
By Amy Marcus

WSJ

Dear NNPDF Families and Friends,

Last night an article written by Amy Marcus of the Wall Street Journal was published. This article discusses the fact that there are three possible clinical trials on the horizon for our Niemann-Pick Type C patient community and that the need for patient recruitment and community support is critical.

Wall Street Journal Article ~ http://www.wsj.com/articles/for-a-rare-disease-drug-trials-scramble-for-patients-1440013683

This article discusses the plan to recruit 51 patients at 20 sites around the world for the trial that Vtesse, Inc. is moving forward with in regards to cyclodextrin. Recently the NNPDF sent out correspondence to all NPC families regarding the “51 and Done!” campaign. The letter asked for all families to sign on and show support for this trial.

You can find a copy of these documents at this link: http://www.nnpdf.org/documents/FullPackettoCommunity.pdf

If you have questions please feel free to contact us at: nnpdf@nnpdf.org.

We will PERSEVERE for a cure!

Nadine Hill
Executive Director

[Aug 20th, 2015 ~ blg]

Div

Vtesse, Inc. Announces Preliminary Data from Ongoing Phase 1 Study of VTS-270 for Treatment of Niemann-Pick Disease Type C

Vtesse

The NNPDF Central Offices are pleased to share with our NPC community that Vtesse, Inc. announced preliminary results today from an open-label Phase 1 clinical trial with VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for treatment of Niemann-Pick Disease Type C (NPC) conducted by researchers at the National Institutes of Health (NIH) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Preliminary analyses, conducted post-hoc, suggest that the rate of disease progression had slowed down (based on a standardized measure) in children treated with VTS-270 in the Phase 1 trial as compared to the rate in an age- and disease severity-matched cohort obtained from a separate natural history study of NPC patients. The analyses also show that children treated with VTS-270 demonstrated improvement on several disease domains.

To view the full press release, as well as the archival history of this clinical trial, please visit the NNPDF Vtesse web page.

[Aug 6th, 2015 ~ blg]

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Genzyme logo

 

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD)
Development Efforts

US Investigational Site Now Open for Recruitment
August 6th, 2015

 

ALERT: United States NPD Type B Families & Friends

The NNPDF central office noted today that the first investigational site for Genzyme's Acid Sphingomyelinase Deficiency (ASMD) Pediatric Trial has been updated and is now actively recruiting pediatric patients at the approved clinical trial center in New York, NY.

Families should follow enrollment criteria as provided on the www.clinicaltrials.gov page. To view these criteria, location details and for additional contact information please visit www.clinicaltrials.gov and refer to study reference number: NCT02292654

For additional information, as well as, all previous updates regarding this Genzyme's ASMD clinical trials, visit the NNPDF Genzyme Clinical Trial webpage.

[Aug 6th, 2015 ~ blg]

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cap

Hello NNPDF Families and Friends,

The NNPDF is pleased to announce to our Niemann-Pick Type B (ASMD) patient community a new “Qualitative Research Phase” titled:  Patient Reported Outcome (PRO) sponsored by Genzyme.  Patient-Reported-Outcome (PRO) instruments are measures self-reported by patients, about disease symptoms and impact, as well as impact of treatment.  Please review the attached announcement which further details the patient interview study and the essential component this information plays in support of the entire ASMD community.

In addition, the NNPDF has been able to work collaboratively with representatives from Genzyme and Evidera (the research consulting firm engaged to oversee this project) will be on-site to conduct “face-to-face” family and patient interviews at the upcoming 23rd Annual NNPDF Family Support and Medical Conference to be held in Chicago, Illinois ~ Thursday, August 6th thru Sunday, August 9th, 2015. 

Please follow this link to read the full Genzyme announcement:  Click here to read the full press release

For more information pertaining to the NNPDF Family Conference:  http://nnpdf.org/familyservices_03.html

[Jul 22nd, 2015 ~ blg]

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Research Publication:
Successful Within-patient Dose Escalation of
Olipudase Alfa in Acid Sphingomyelinase Deficiency (ASMD)

Wass

The NNPDF Central received notification of a recent on-line publication highlighting the work of Dr. Melissa Wasserstein, and the invaluable work that she has been doing to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Dr. Wasserstein's work has been co-sponsored by the National Niemann-Pick Disease Foundation (NNPDF) and the Canadian Chapter of the NNPDF (CCNNPDF) since October of 2014.

An article was published in Elsevier's Molecular Genetics and Metabolism magazine online that we wanted to share with the ASMD community.

Click here to read the full article:
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Follow this link to learn more about Dr. Wasserstein's specific research:  http://nnpdf.org/npresearch_05.html

[Jun 25th, 2015 ~ blg]

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Update on Niemann-Pick Disease, Type C

PR

Dear NNPDF Families and Friends,

The NNPDF Central Office is pleased to share with our NPC community the following press release.

Calporta Therapeutics is developing small molecule agonists of TRPML1 for the treatment of Niemann-Pick Disease, type C (NPC) and other lysosomal storage diseases. Calporta's approach is based on research from the lab of Haoxing Xu, Ph.D., at the University of Michigan.

Click here to read the full press release

As more information becomes available we will continue to update this website, as well as, our social media sites.

[Jun 23rd, 2015 ~ blg]

Div

Logo

 

NIH Pharmacy Development Section Issue-NOT applicable to NPC trials-notes Dr. Porter of NIH
NIH Press Release
Dateline: 06/04/2015

 


Dear NNPDF Families and Friends,

This afternoon a press release from the National Institutes of Health (NIH) outlined the discovery of a serious manufacturing problems and lack of compliance with standard operating procedures discovered during a recent  at the NIH Pharmacy  Development Section which the FDA inspected in late May 2015.  We have received the following comments from Dr. Forbes Porter as it relates to the two Niemann-Pick Disease Type C (NPC) clinical trials which are currently being conducted at the NIH.

MEMO

From: Dr. Forbes Porter
RE:
NIH Pharmacy Development Press Release
Dated:
Thursday, June 4th, 2015

To all:

I would like to notify you of an issue that has occurred in the NIH Pharmacy Development Section that is likely to hit the news.  Please see below.   I am concerned that there may be some confusion with respect to an investigational drug manufactured by the Pharmacy Development Section (PDS) and an investigational drug dispensed by the NIH pharmacy.

This does not affect either the cyclodextrin or vorinostat studies. 

We are currently in the process of  trying to notify the families that are participating in our trials.   Please feel free to post or distribute to those that may hear the news and have questions. 

Denny

Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD, NIH
Program Head, PDEGEN, NICHD, NIH
Clinical Director, NICHD, NIH

Please find a copy of the full press release below.

Kind regards,
Nadine Hill
NNPDF Executive Director

~ For Immediate Release: Thursday, June 04, 2015 ~

NIH suspends operations in its Clinical Center Pharmaceutical Development Section
http://www.nih.gov/news/health/jun2015/nih-04.htm

The National Institutes of Health (NIH) Clinical Center has suspended operations of its Pharmaceutical Development Section (PDS) due to the discovery of serious manufacturing problems and lack of compliance with standard operating procedures. Upon receipt of a complaint, Food and Drug Administration (FDA) representatives inspected the PDS between May 19 and May 29, and found a series of deficiencies that will require the NIH Clinical Center to take a number of corrective actions.

The facility makes products for certain clinical research studies conducted in the hospital and collaborating facilities. In April, two vials of albumin, used for the administration of the drug interleukin in experimental studies, were found to have fungal contamination. Vials made from the same batch were administered to six patients, although it is unknown whether those or other vials were contaminated. The six patients have been notified and are being followed closely for any signs of infection. At this time, none has developed signs of infection or illness.

“This is a distressing and unacceptable situation,” said NIH Director Francis S. Collins, M.D., Ph.D. “The fact that patients may have been put in harm’s way because of a failure to follow standard operating procedures in the NIH Clinical Center’s Pharmaceutical Development Section is deeply troubling. I will personally oversee the steps to protect the safety of patients and remedy the situation as swiftly as possible.”

Among the problems the FDA identified in their inspection were deficiencies in the physical facility, including flaws in the air handling system, and operational failures including inadequate quality control, insufficient employee training, and lack of compliance with standard operating procedures. Deficiencies of lesser significance were identified in the Clinical Center Pharmacy. The FDA inspection reports are available here: http://www.cc.nih.gov/phar/pdfs/483.pdf (PDF - 1.31KB).

The following steps are being taken immediately to protect patients:

  1. Operations of The Pharmaceutical Development Section have been suspended and no products will be made or distributed until all problems are fully understood and corrected. Materials produced by the Section are being systematically tested for contamination.
  2. Of the participants in the 46 studies that are potentially affected, approximately 250 are currently scheduled to receive products manufactured by the PDS. NIH has notified the individual principal scientists responsible for each of those protocols, and is in the process of notifying the participants in these protocols. The vast majority of these patients are not immediately due for treatment and NIH is working to secure alternative sources for the products.
  3. An external group of experts in microbiology and sterile manufacturing practices will be appointed to conduct a thorough review, including an assessment of all standard operating procedures, policies, staffing, and training, and make recommendations to the NIH director on the corrective actions required.
  4. In addition to the immediate steps NIH is taking, it will provide an interim corrective action plan to the FDA by Friday, June 19, 2015.

“Our first responsibility is the safety and care of our patients,” said Dr. Collins. “NIH leadership is determined to identify and correct all of the deficiencies that have led to this situation.”

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Visit the NNPDF Cyclodextrin Page to view the full press release in PDF, and to see the full history of the Cyclodextrin clinical trial campaigns!

[Jun 4th, 2015 ~ blg]

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Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
June 4th, 2015

 

Dear NNPDF Families and Friends,

The NNPDF Central Office is pleased to share a Press Release from Genzyme, a Sanofi Company, (dtd: Thursday, June 4th, 2015) which announces that the United States Food and Drug Administration (FDA) has granted “Breakthrough Therapy” designation to olipudase alfa. This enzyme replacement therapy (ERT) is being investigated for the treatment of patients with nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Disease type B.

“Breakthrough Therapy” designation is intended to expedite the development and review of investigational new drugs that target serious or life-threatening conditions which have an unmet therapy or medical treatment.

This is the FIRST time that Genzyme has had a product receive the FDA “Breakthrough Therapy” designation and only the second for all of Sanofi! The NNPDF has also been advised that the foundation’s participation, along with our NPB patients and family membership in the April 29th, 2015 ground-breaking meeting with FDA regulatory representatives, played a key role in ensuring that this FDA “Breakthrough Therapy” designation was granted. The opportunity afforded to the NPB (ASMD) patient community through that meeting and this designation is ground-breaking for the Rare Disease Community.

The meeting objective from April 29th, 2015 was described and developed under the following guideline:

Under the fifth authorization of the Prescription Drug User Fee Act (PDUFA V), FDA committed to more systematically gather patient’s perspectives of their condition and available therapies to treat their condition. The upcoming meeting on April 29th with the NNPDF and some of their members is an opportunity for FDA and members of the Niemann-Pick community to engage in a unique dialogue to help ensure the patient perspective of living with Niemann-Pick B is better understood. This meeting represents a new opportunity for the rare disease community to continue their partnership with FDA.

CAMBRIDGE, Mass. - Genzyme, a Sanofi company, announced today that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy designation to olipudase alfa. This enzyme replacement therapy is being investigated for the treatment of patients with nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B, as opposed to type A which is characterized by neurological involvement. ASMD is a serious and life-threatening disorder caused by insufficient activity of the enzyme acid sphingomyelinase (ASM), which results in toxic accumulation of sphingomyelin. There are currently no approved treatment options for patients with Niemann-Pick disease type B.

Breakthrough Therapy designation is intended to expedite the development and review of investigational new drugs that target serious or life-threatening conditions. The criteria for granting Breakthrough Therapy designation are preliminary clinical evidence of substantial improvement on a clinically significant endpoint over available therapies. The Breakthrough Therapy designation is distinct from the FDA’s other mechanisms to expedite drug development and review, and will allow for a close collaboration between Genzyme and the FDA on the olipudase alfa development program.

According to the FDA website the benefits of a breakthrough therapy designation are:

Breakthrough therapy designation is intended to expedite the development and review of drugs for serious or life-threatening conditions. The criteria for breakthrough therapy designation require preliminary clinical evidence that demonstrates the drug may have substantial improvement on at least one clinically significant endpoint over available therapy.

A breakthrough therapy designation conveys all of the fast track program features (see below for more details on fast track designation), more intensive FDA guidance on an efficient drug development program, an organizational commitment involving senior managers, and eligibility for rolling review and priority review. Section 902 of FDASIA requires the following actions, as appropriate:

  • holding meetings with the sponsor and the review team throughout the development of the drug
  • providing timely advice to, and interactive communication with, the sponsor regarding the development of the drug to ensure that the development program to gather the nonclinical and clinical data necessary for approval is as efficient as practicable
  • taking steps to ensure that the design of the clinical trials is as efficient as practicable, when scientifically appropriate, such as by minimizing the number of patients exposed to a potentially less efficacious treatment
  • assigning a cross-disciplinary project lead for the FDA review team to facilitate an efficient review of the development program and to serve as a scientific liaison between the cross-discipline members of the review team (i.e., clinical, pharmacology-toxicology, chemistry, manufacturing and control, compliance) for coordinated internal interactions and communications with the sponsor through the review division’s Regulatory Health Project Manager
  • involving senior managers and experienced review staff, as appropriate, in a collaborative, cross-disciplinary review

Visit the NNPDF Enzyme Replacement Therapy web page to view the full press release, for more information regarding the FDA's Breakthrough Therapy & see the full history of the ERT clinical trial campaigns!

[Jun 4th, 2015 ~ blg]


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Banner

Orphazyme Announcement:
Orphazyme Clinical Trial Development Update on Arimoclomol in NPC
Dateline: 05/11/2015

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation has been advised by Orphazyme that an “Observational” clinical study for NP-C, tied to their clinical development program of arimoclomol in NPC, has been registered and made available on www.clinicaltrials.gov.  The link to the information pertaining to just this trial is at: https://clinicaltrials.gov/ct2/show/NCT02435030?term=02435030&rank=1

This information was updated as of April 30, 2015. 

At this time, no site in the United States has been announced and currently the study is not open for participant recruitment.  Orphazyme has indicated that they are targeting a clinical trial to start date in the United States toward the end of first quarter 2016.  As we receive further announcements and updates, it will be posted to our NPD family community! 

You can read either the full text view or the tabular view depending upon your preference.  The text allows you to see the inclusion and exclusion information along with the primary outcome measures they will be looking at. 

Sincerely,

Nadine M. Hill
Executive Director
National Niemann-Pick Disease Foundation

[May 11th, 2015 ~ blg]

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Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development
Efforts Pediatric Trial
April 24th, 2015

 

Dear NNPDF Families and Friends,

The NNPDF Central Offices have been notified that Genzyme, a Sanofi Company, has released a statement with additional details about the pediatric Phase 1 / 2 clinical trial of recombinant human acid sphingomyelinase (rhASM).

Visit the NNPDF Enzyme Replacement Therapy web page to view the the statement

[Apr 24th, 2015 ~ blg]

Div

 

Banner

Orphazyme Announcement:
Orphazyme Kicks off Clinical Program of Arimoclomol
in Niemann-Pick Disease Type C
Dateline: 04/15/2015

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation is pleased to share with you the following announcement received from Orphazyme ApS of an upcoming clinical trial for Niemann-Pick Disease Type C.  Orphazyme ApS (Copenhagen, Denmark) develops new therapies for the treatment of rare and genetic diseases.

To read the full press release, visit the NNPDF Orphazyme page


As more information becomes available we will continue to update this page, as well as, our social media sites.

[April 15th, 2015 ~ blg]

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Vtesse

Register for Webinar on Cyclodextrin for NPC
Dateline: April 16th, 2015

Vtesse invites you to hear about their progress, ask questions and provide feedback


Register to attend Vtesse's first town hall webinar on their investigation of VTS-270 (cyclodextrin) for Niemann-Pick Disease, Type C (NPC), April 16, 2015. The webinar geared toward US audiences is scheduled for:

  • 4:30 PM Pacific Standard Time
  • 5:30 PM Mountain Standard Time
  • 6:30 PM Central Standard Time
  • 7:30 PM Eastern Standard Time

For our family membership residing in Europe, Vtesse is hosting a call April 16, 2015 at 6:30 PM BST; 7:30 PM CET aimed at the UK and European Audience. Although the Webinars are aimed at audiences from the USA, Canada and Europe, participants are welcome from all around the world.

This is a great opportunity to get answers to your questions and hear about the advantages of conducting a clinical trial and options for accelerated approval.

Visit the Cyclodextrin page for the full press release and international webinar times

[Apr 7th, 2015 ~ blg]

Div

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WSJ

~Cyclodextrin In the News~

“Deaf or Death?  In Drug Trial, Parents Weigh Life vs. Hearing Loss”
& "Others Hit Unexpected Obstacles in NPC Survival Fight"
By Amy Dockser Marcus ~ Staff writer for the Wall Street Journal
Dateline: March 1st, 2015 
---
"Our Bid to Raise Awareness of Our Son's Disease"
BBC Health News
Dateline: February 27th, 2015

 

BBC

Dear NNPDF Families and Friends,

The NNPDF Central Office was recently notified of three articles "In the News", which address ongoing therapies and family efforts to care for their children for Niemann-Pick Disease type C. The first two articles are highlighted in the Wall Street Journal, the third in the United Kingdom via the BBC. We have included links for you below.

"Deaf or Death?  In Drug Trial, Parents Weigh Life vs. Hearing Loss"
& "Others Hit Unexpected Obstacles in NPC Survival Fight"
Wall Street Journal
Dateline: March 1st, 2015

WSJ

Author, Amy Marcus, of the Wall Street Journal, continues to update her previously published articles on Niemann-Pick Type C, which has focussed on several families journeys to the current Cyclodextrin trials at the National Institutes of Health (NIH). 

The focus of the first article addresses the issue of higher doses of Cyclodextrin and the effects on the patients hearing loss, a side affect that is being weighed against the efficacy of the drug itself.  This is also related to the Press Release from Dr. Porter released on February 27th

The second article follows up with the Papier and Hempel families since their last published articles and the effects NPC has had on their life through their trials with Cyclodextrin.

Click here to read "Deaf or Death? In Drug Trial, Parents Weigh Life vs. Hearing Loss"

Click here to read "Others Hit Unexpected Obstacles in NPC Survival Fight"

~~~~

"Our Bid to Raise Awareness of Our Son's Disease"
BBC Health News
Dateline: February 27th, 2015

BBC

This BBC post highlights Sam Evans, NPC, son of Miriam Evans (Administrative Assistant of the International Niemann-Pick Disease Alliance (INPDA)) in a bid to raise awareness for Niemann-Pick disease type C (NPC), as well as, Rare Disease Day on February 28th.

The article also shines light on the INPDA's campaign ~ Think Again. Think NP-C ~ which aims to reduce diagnosis time by helping doctor's unfamiliar with NPC to recognize the key signs and symptoms.

Click here to read the BBC Health News Article

[Mar 2nd, 2015 ~ blg]

 

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Niemann-Pick Disease Clinical Trial Updates:

 - Cyclodextrin (NPC ~ pediatric)

 - Vorinostat (NPC ~ adult)

 - Enzyme Replacement Therapy (ASMD ~ pediatric)

 

Niemann-Pick Disease Research “In the News”:

 

 - Penn Vet Researchers Identify Effective Treatment for Niemann-Pick Disease Type C

 

Denny Porter

Dr. Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHD

Dear NNPDF Families and Friends,

In tandem with World Rare Disease Day 2015 and in support of our NPD families WORLD-WIDE, the National Niemann-Pick Disease Foundation (NNPDF) is pleased to share the most recent research and clinical trial updates within the Niemann-Pick Disease Community.

The NNPDF central offices received the following clinical trial updates from Dr. Forbes D. Porter at the National Institutes of Health (NIH) to share with the NPC membership with regards to recent developments in the Cyclodextrin and Histone Deacetylase Inhibitors (HDACi ~ vorinostat) clinical trials.

Click here to read the latest press release from National Institutes of Health (NIH);dtd: February 27th 2015

For a detailed history of leading up to these two clinical trials, you can visit the NNPDF Cyclodextrin web page and the HDACi webpage

1st Contact
Lee Ann Keener

leeann.keener@nih.gov

(301) 594-2005
Clinical Research Nurse
2nd Contact
Nicole Farhat nicole.farhat@nih.gov
(301) 594-1765
Registered Nurse Clinician/Researcher
  Dr. Forbes D. Porter     Prinicpal Investigator

 


Genzyme logo

Genzyme Pharmaceuticals, a division of Sanofi, which most recently announced two upcoming clinical trials to begin in 2015 for our Niemann-Pick Disease Type B adult and pediatric patient community (see the press releases here) developed activities around NPB patient families in support of World Rare Disease Day.   Genzyme employees in the Boston area spent the day Friday, February 27th recognizing their focused and directed efforts of support and research towards patients in the Rare Disease Community.  As the ASMD Enzyme Replacement Therapy pediatric clinical trial will soon begin enrolling, and to help Genzyme employees all over the Boston area understand the impact of Niemann-Pick B disease on an individual’s quality of life, Genzyme hosted two families raising children who are growing up with NPB.  Genzyme hosted events throughout the day at all 6 of their Boston area facilities.  You can receive up-to-the minute updates, as well as, a full recap on the day by following Genzyme on Twitter at @genzymecorp via the handle  #genzymerelay!

Genzy
Kalia & Jack


Niemann-Pick Disease Research “In the News”:

Vite
Dr. Charles Vite, D.V.M., Ph.D.

In conjunction with the clinical trial updates noted above, the NNPDF also received notification of a recent on-line publication highlighting the work of Charles Vite, Ph.D, and the invaluable work that he has been doing with the naturally-occurring Niemann-Pick Type C felines at the University of Pennsylvania ~ School of Veterinary Medicine.

Dr. Vite's work has been co-sponsored by the National Niemann-Pick Disease Foundation (NNPDF) and the Canadian Chapter of the NNPDF (CCNNPDF) since August of 2011. In the summer of 2014, Dr. Vite was granted an extension to his research so as to continue on with his significant work associated with Niemann-Pick Disease Type C. 

An article was published in PennNews online that we wanted to share with the NPC community.

Click here to view the news article

Follow this link to learn more about Dr. Vite's specific research:  http://nnpdf.org/npresearch_05.html

 

[Feb 27th, 2015 ~ blg]

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ASMD (Niemann-Pick Disease Type A/B & B) Updates from the 2015 WORLD Symposium

Wass

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation is excited to share with our NPD community family membership research updates presented at the 2015 WORLD Symposium on Lysosomal Disease Research under the direction of:  Dr. Melissa Wasserstein M.D. & Genzyme, a Sanofi Company.  This research is in support of Genzyme’s ongoing efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Dr. Melissa Wasserstein, a current two-year grant recipient of the NNPDF, in support of her natural history study of NPD type A & B, is attending the WORLD Symposium as a presenter of her current work titled:

"An open-label, multicenter, ascending-repeat-dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)"

We're also excited to share an additional research abstract presented by Dr. Beth Thurberg, MD, PhD, vice president of Pathology at Genzyme Corporation, titled:

"Hepatic pathology of acid sphingomyelinase deficiency: Clearance of sphingomyelin with recombinant human acid sphingomyelinase administration is associated with improvement in pro-atherogenic lipid profiles"

Further, Dr. Thurberg discusses the results of the ERT Phase 1B clinical trial in the video below addressing the clearance of sphingomyelin with recombinant human acid sphingomyelinase administration in patients with Niemann-Pick Type B disease.

Visit the Enzyme Replacement Therapy page to view the video & the related
Genzyme Press Release ~ Dateline ~ 02/12/2015!

The ASMD community gives thanks to the 5 Phase 1B clinical trial participants for taking on this brave effort which involved extreme time, travel, work and family involvement and commitment on behalf of the wider ASMD (NPD Type B) patients worldwide.

We will continue to bring you the latest research from the Symposium floor as it is made available to us.  In the meantime, you can read all the abstract research on the NNPDF WORLD Symposium web page.

**Abstract publication notice.

Published in the February 2015 special “Lysosomes Issue” of Molecular Genetics and Metabolism (MGM). Articles and full text of the abstracts from this issue can be purchased individually from Elsevier. The journal has been published and is available online (click here)

http://www.journals.elsevier.com/molecular-genetics-and-metabolism/open-access-articles/

 

[Feb 12th, 2015 ~ blg]

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Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts Adult Trial
January 28th, 2015

 

Dear NNPDF Families and Friends,

The NNPDF is pleased to provide you with the following update from Genzyme, a Sanofi Company, on NEWLY released information about the adult Phase 2 / 3 clinical trial of recombinant human acid sphingomyelinase (rhASM).

Visit the NNPDF Genzyme web page to view the full announcement

Please be advised of the following details associated with the adult Phase 2 / 3 clinical trial #: NCT02004691

  • The study is NOT yet open for patient recruitment
  • Inclusion / Exclusion criteria are provided in the post
  • Estimated enrollment of 35 adult patients
  • MUST be 18 years and older
  • The number of country clinical sites and locations has NOT yet been determined ~ but there will be clinic sites in multiple countries.
  • More information is detailed at the trial page link here.  

[Jan 28th, 2015 ~ blg]

Div

 

Vtesse

~Cyclodextrin Update~ 01/07/2015
Update on NPC Cyclodextrin Trial

Leading Life Science Syndicate Commits $25 Million to Series A Funding to Launch Vtesse, Inc., the First Rare Disease Company Spun Out of Cydan Development, Inc.

 

Additional Rersources:

WSJ
Wall Street Journal (WSJ) Article

Small Biotech Gets Rights to Rare Disease Drug
(paid subscription required to read)

 

Dear NNPDF Families and Friends,

We are pleased to share with the foundations Niemann-Pick Disease type C (NPC) families and community a recent development pertaining to the Cyclodextrin clinical trial. The recently incorporated, Vtesse, a rare disease company spun-off from Cydan Development, Inc., which is focused on developing drugs for Niemann-Pick Disease Type C (NPC) and other severe diseases with great unmet need, will begin collaborating with the National Institutes of Health on furthering development of Cyclodextrin (VTS-0270) for Niemann-Pick type C.

Vtesse also announced that it has established a Cooperative Research and Development Agreement (CRADA) with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Center for Advancing Translational Sciences (NCATS), each a component of the National Institutes of Health (NIH). Vtesse and NCATS have also entered into a licensing agreement for the current rights held by NIH for the worldwide use of cyclodextrin, delta-tocopherol, and derivatives of tocopherol, alone or in combination, for the treatment of lysosomal storage diseases (LSDs), including NPC. Regulatory orphan designations for the U.S. and EU will be also be transferred to Vtesse.

Vtesse will use the proceeds from the $25 Million raised through its Series A financing to conduct a clinical program for VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for NPC, and to discover and pre-clinically evaluate additional novel drugs for NPC and other lysosomal storage diseases.

For more information on phase 2 & 3 of the Cyclodextrin clinical trials & the transition from NIH to Vtesse, Inc, please review the full press release here: Click Here

The NNPDF Central Offices will continue to assist with the dissemination of information pertaining to the news and updates relating to the ongoing efforts associated with this clinical trial.  Should you have any questions regarding this post, please feel free to contact the NNPDF Central Offices at:  nnpdf@nnpdf.org or the foundation web site at:  www.nnpdf.org .  In addition, for a complete historical timeline on the Cyclodextrin Clinical trial, please refer to the NNPDF’s Cyclodextrin web page for more details.

[Jan 7th, 2015 ~ blg]

 


Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
Pediatric & Adult Trials
December 9th, 2014

 

The CCNNPDF Central Offices have been notified that Genzyme, a Sanofi Company, has released an official press announcement with details of the pediatric Phase 1 / 2 clinical trial & the adult Phase 2/3 of recombinant human acid sphingomyelinase (rhASM).

Visit the Enzyme Replacement Therpy web page to view the press release

 

This is truly an exciting time for our Niemann-Pick Disease Type A & B (ASMD) families and community and the NNPDF looks forward to working with all involved in this matter as we work to ~ PERSEVERE in our Quest for a Cure!


[Dec 9th, 2014 ~ blg]


Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
December 3rd, 2014

 

The NNPDF Central Offices have been notified that the Genzyme, a Sanofi Company, has posted an update to clinicaltrials.gov on the recently announced the details of the pediatric Phase 1 / 2 clinical trial of recombinant human acid sphingomyelinase (rhASM).

You may find information and details associated with this trial at:  clinicaltrials.gov and enter Clinical Trials ID #:  NCT02292654 in the search box.

The title of the trial is listed as:  Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of rhASM in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency

The study is NOT yet open for participant recruitement.

The wider NPD patient advocacy support community is working hand-in-hand with representatives from Genzyme to post a further patient update with more details and information.  We will make this memo available as soon as it is received from Genzyme.

In the interim, if you have any questions ~ please feel free to contact the NNPDF Central Offices at:  1-877-287-3672 or e-mail:  nnpdf@nnpdf.org

This is truly an exciting time for our Niemann-Pick Disease Type A & B (ASMD) families and community as the NNPDF looks forward to working with all involved in this matter as we work to ~ PERSEVERE in our Quest for a Cure!

Kind regards,

Nadine

[Dec 3rd, 2014 ~ blg]


"Twins with Rare Genetic Disorder Could Hold Clue to Cure for Ebola"
CBS News Article
Dateline: November 12th, 2014

Hempel Twins
Cassi and Addi Hempel (NPC)

Dear CCNNPDF Families and Friends,

With the world's eyes currently on the Ebola topic, as well as the interest in how the NPC1 gene could help to develope a cure for it, more news coverage is being released. 

CBS News published an online article on November 12th that discusses how current research may lead to the development of drug that uses NPC1 to stop an Ebola infection.  It also follows the Hempel families journey and how the disease they have been fighting for for 8 years could prove beneficial in saving lives.

Click here to read the CBS News article

[Nov 13th, 2014 ~ blg]


Genzyme Clinical Trial Update
Safety and Tolerability of Within-Patient Dose Escalation
Presentation by: Dr. Melissa Wasserstein

Wass
Melissa P. Wasserstein M.D.


During the 2014 Annual Meeting of the American Society of Human Genetics (ASHG), held  from October 18th-22nd in San Diego, California, Dr. Melissa  Wasserstein M.D.  was honored to give a presentation on the results of the safety and tolerability of the enzyme replacement therapy (ERT) 1b clinical trial being funded by Genzyme, a Sanofi Company.   

The key information noted within the abstract was that:  “The dose escalation regimen was well tolerated, with all patients reaching the maximum dose of 3.0 mg/kg. No serious or severe adverse events or deaths were reported. Related AEs consisted predominantly of infusion-associated reactions, the majority of which were mild and resolved without sequalae. A positive response to treatment with rhASM was observed in liver sphingomyelin content and several exploratory efficacy parameters, including spleen and liver volumes, pulmonary function testing, lung imaging, lipid profile, and quality of life assessments.”

Click here to review the abstract from the presentation.

Further updates from the entirety of this research are planned to be presented at the 11th Annual WORLD (We’re Organizing Research on Lysosomal Disease) Symposium in Orlando, Florida ~ February 9th ~ 13th, 2015. 

In addition, the NNPDF is pleased to advise that Dr. Wasserstein is also a two-year grant recipient of the NNPDF in support of her research study to describe the natural history of NPD type A and B. This research study is designed to collect serial data in patients with NPD. Patients will complete various medical study evaluations. See full lay summary on the NNPDF Funded Research Grants page.

[Nov 6th, 2014 ~ blg]


Researchers Study Ebola Link to Gene in Rare Disease ~ Niemann-Pick Type C
NPD Type C and Connection to Ebola
A Wall Street Journal Article
Written by: Amy Dockser Marcus
Dateline: November 2nd, 2014

5
Hughe and Chris Hempel (parents of Addi and Cassi (NPC) donating to Coriell Science biobank
to further research in connection to Niemann-Pick Type C & the Ebola virus.

Dear NNPDF Families and Friends,

Right on the heels of October 2014 as GLOBAL Niemann-Pick Disease Awareness Month, a news article has been posted in the Wall Street Journal highlighting the unique connection between NPD Type C and Ebola. Wall Street Journal Medical writer, Amy Dockser Marcus, who previously wrote an in-depth article on the Hugh and Chris Hempel family, their twin daughters, Addi & Cassi and their journey with NPD Type C, brings the research around full-circle.

Hugh Hempel noted, "In 2009 we donated our cells (a little punch biopsy under our arm) to a non-profit bio-bank in order to make it easier for scientists to research NPC. Never imagined that Ebola researchers would take our cells and use them to discover that our RareDisease could enlighten a treatment for Ebola... Check out the Wall Street Journal Article about this amazing connection."

The members of the NNPDF Scientific Advisory Board have indicated for years that the NPC gene is so very complex and likely holds the key to answers for a wide array of diseases and illnesses.

To see a WSJ Health & Science Video and to read more about this finding in the Wall Street Journal article~ click here:http://online.wsj.com/articles/researchers-study-ebola-link-to-gene-in-rare-disease-1414965218

Kind thanks to the Hempel family and Amy Marcus for continuing to keep NPC in the focus of researchers and the medical community.

Nadine Hill, Executive Director
National Niemann-Pick Disease Foundation ~ www.nnpdf.org

To view Amy Dockser Martin's previous Wall Street Journal article on NPC, visit: http://www.nnpdf.org/NewsLinePage.html#Trials

[Nov 3rd, 2014 ~ blg]


 

Logo

National Institutes of Health
HDACi ~ vorinostat Clinical Trial Update
for NPC Adult Patients
Dateline:  NIH/Bethesda, Maryland ~ Friday, September 12, 2014

Update from Dr. Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHD

The NNPDF central offices received the following update from Dr. Forbes D. Porter to share with the NPC community with regards to recent developments in reference to the Histone Deacetylase Inhibitors (HDACi) ~ vorinostat clinical trials for NPC adults.

We are pleased to inform the NPC community of an upcoming clinical trial at the NIH to study the safety and tolerability of vorinostat in adults with Niemann-Pick disease, type C1. We plan to begin enrolling patients in September 2014.

This clinical trial is an open label study for 12 patients. “Open label” means that every patient will get vorinostat. There is no placebo, or sugar pill, in this study. Patients will come to the NIH for a total of 3 visits - at baseline, 3 months and at 6 months for this trial. Each visit will last for about 7-10 days. Patients will start taking the study drug while they are at the NIH and will continue taking the study drug when they return home. They will also need to have blood drawn for safety labs every two weeks between visits while they are at home. After the 6 month visit, they will stop taking the study drug and they will be done with the trial.

Vorinostat is a pill that is taken by mouth. The purpose of this study is to test the safety and tolerability of vorinostat when it is given to adults with NPC1. Patients will have blood drawn and will have a lumbar puncture (spinal tap) to collect spinal fluid at each visit to measure how much of the drug is absorbed. Patients will also have tests of hearing, speech, swallowing and movement.

For the full press release and more information on the clinical trial and eligibility criteria for NPC adult patients, please refer to the NNPDF HDAC Inhibitor clinical trial page.

Parsegian

Dateline: September 12th, 2014
Ara Parseghian Medical Research Foundation (APMRF):

The FDA has granted an Investigational New Drug exemption to the APMRF that will allow us to study the safety and potential biochemical efficacy in adult patients with NPC1. The study will enroll 12 NPC1 patients. Although the IND exemption does not allow us to test vorinostat in children with NPC1, this exemption will save significant time and expense in obtaining proof of concept data. Working together, this collaborative group hopes to advance our understanding of the potential of an HDACi to treat individuals with NPC. Greg Crawford, Dean of the Notre Dame College of Science, in conjunction with APMRF have raised $500,000 to facilitate this work.  Merck has graciously agreed to provide the drug supply for the trial.

[Sept 12th, 2014 ~ blg]


Banner

Orphazyme ApS (LLC)  
Clinical Trial Updates for Niemann-Pick Type C Disease
September 8th, 2014

Update from: Anders M. Hinsby
Orphazyme Chief Executive Officer

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation is pleased to share with you the following announcement received from Orphazyme ApS of an upcoming clinical trial for Niemann-Pick Disease Type C.  Orphazyme ApS (Copenhagen, Denmark) develops new therapies for the treatment of rare and genetic diseases.

To view the official announcement as provided to the NNPDF visit the Orphazyme page: http://www.nnpdf.ca/Orphazyme.html

As more information becomes available we will continue to update the NNPDF web site as well as our social media sites. Please refer to Orphazyme's website for additional information: http://www.orphazyme.com/

[Sept 8th, 2014 ~ blg]


e-News
Request for Applications
University of Pennsylvania
~ Center for Orphan Disease Research and Therapy ~
NPC Postdoctoral Fellowship and Pilot Grant



The NNPDF Central office staff recently learned that due to the “herculean efforts” of family members of the NNPDF who took part University of Pennsylvania’s “Dollar for Dollar Match” ~ Million Dollar Bike Ride in early May to benefit the Center for Orphan and Disease and Research and Therapy ~ that the University has announced two “Requests for Applications” (RFA’s) associated with Niemann-Pick Disease Research.  The RFA specifies a $50,000 NPC Pilot Grant and a $35,000 Postdoctoral Fellowship Grant for NPC research will be awarded. To reach this goal, each family created a “Bike Team” in honor/in memory of their loved one(S) diagnosed with Niemann-Pick Disease Type C.

To view the Million Dollar Bike Ride event whose efforts made this funding possible, click here

Collage2

Click here for details on application eligibility, instructions & deadlines.


This is indeed wonderful news for all of our NPC families and researchers a-like, as the members of the NNPDF Board of Director's, with support from our esteemed Scientific Advisory Board Members voted to fund three Niemann-Pick Type C laboratories, as well as an Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease) grant. Further details will be forthcoming once contracts have been signed.

A very special thank you to the four key families who spearheaded this event, Coppola, Hosinger, Mayo, and Reedy ~ and all those who participated in the race.  The advancement of research for Niemann-Pick Disease would not be possible without the support of the entire NPC community.

Patients, families, researchers, doctors and community members ALL continue to come together for a common cause and a common goal towards NPD research.

We WILL Persevere in our Quest for a Cure!

[Aug 29th, 2014 ~ blg]


National Institutes of Health  
Clinical Trial Updates for Niemann-Pick Type C Disease
June 27th, 2014
*Cyclodextrin and HDAC Inhibitor*

Update from Dr. Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHD

The NNPDF central offices received the following update from Dr. Forbes D. Porter to share with the community in regards to recent developments in both the Cyclodextrin and new Histone Deacetylase Inhibitors (HDACi) clinical trials.

The TRND team continues to work to determine if cyclodextrin is a safe and effective therapy for children and young adults with Niemann-Pick Disease, type C1. This trial was initially started in January 2013 using Ommaya reservoirs; however, after three patients we had to stop the trial due to complications.  The trial was revised to administer the cyclodextrin by lumbar intrathecal infusion (spinal tap).  We were able to resume the trial in September of 2013 and to date we have enrolled twelve patients in whom we have studied cyclodextrin doses between 50 and 400 mg.  Some of the initial biomarker results look promising and we expect to obtain results from additional biomarker testing over the next few months.   From a safety perspective we are still concerned about ototoxicity (hearing loss) and we are working to try to better understand this issue.  Concurrent with this first trial we are working on a number of options that would support a phase II/III trial that would try to show that cyclodextrin has clinical benefit.    This second trial will need to be multisite and multinational.  

For more information about the Cyclodextrin Clinical Trial, visit the Cyclodextrin page.

In addition to cyclodextrin, we are also exploring the potential use of histone deacetylase inhibitors (HDACi) to treat NPC1. The Maxfield and Sturley research groups showed that HDACi can reduce cholesterol storage in cells that have been cultured from NPC1 patients.     Over the past year we have been working to establish a proof of concept clinical trial of HDAC inhibition in NPC1.  A proposal to evaluate HDACi in NPC1 was awarded one of the first U01 grants (Drs. Maxfield, Ory and Porter) designed to promote extramural utilization of the NIH Clinical Center (http://www.nih.gov/news/health/mar2014/nichd-13.htm).  This collaboration has now been expanded this intramural/extramural collaboration to include investigators from Notre Dame (Drs. Helquist and Wiest), Broad Institute (Dr. Holson) and Mayo Clinic (Dr. Patterson).   This effort is being supported by Notre Dame College of Science and the Ara Parseghian Medical Research Foundation. The initial drug to be tested will be vorinostat.  Vorinostat is approved by the FDA for the treatment of cutaneous T-cell lymphoma.  Since this is a proof of concept trial and the safety of this drug in NPC subjects is not likely to differ significantly from patients with cutaneous T-cell lymphoma who have failed alternative chemotherapy, we were able to obtain a waiver of the requirement for an Investigational New Drug application for the testing of vorinostat in adult subjects with NPC1.  The NICHD Institutional Review Board (IRB) has approved a protocol to test the safety and efficacy of vorinostat in a cohort of 12 adult NPC1 subjects and we are currently working on IRB approval for a second site at the Mayo Clinic.  This will be a phase I proof of concept trial that will focus on safety of HDACi in NPC1 subjects and determine if HDAC inhibition has a desirable biochemical effect in white blood cells.  Although we still have a number of issues to resolve, it is our goal to initiate this protocol this fall.

                   For more information about the Histone Deacetylase Inhibitors Trial, visit the HDACi page.

[Jun 27th, 2014 ~ blg]


 

Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
June 13th, 2014

 

Dear NNPDF Families and friends,

The NNPDF Central Offices received the following update from Genzyme (a Sanofi Company) in reference to the current Enzyme Replacement Therapy clinical 1b phase trial provided on June 13th, 2014:

"Genzyme, a Sanofi company, is pleased to update the Niemann-Pick disease patient community on the progress of efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Genzyme completed a Phase 1b trial in Niemann-Pick disease Type B adult patients in January 2014. The Phase 1b trial evaluated the safety and tolerability of an investigational enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM) when administered once every 2 weeks. Five adult patients with Niemann-Pick B disease were enrolled and completed the trial  at two study centers, Mount Sinai in New York, NY, US, and St. Mary’s Hospital in Manchester, UK. At this point in time, we are reviewing and preparing the final analyses of the Phase 1b trial.  The results of the Phase 1b trial will allow us to develop and plan future studies and to have a discussion with regulators such as FDA and EMA concerning our next step in the process. 

While Genzyme continues to evaluate the results of the Phase 1b trial and prepare for meetings with the regulatory authorities, Genzyme continues to make progress preparing for a Phase 2 trial to further evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks for one year. The Phase 2 study will be a multi-center, international, 1-year placebo-controlled trial to investigate the safety and efficacy of rhASM in adults with Niemann-Pick disease Type B. Participant enrollment for the Phase 2 study will begin after the results of the Phase 1b clinical trial have been fully evaluated, we have had the opportunity to discuss the results with regulatory authorities, and the trial sites are activated.

Genzyme remains committed to the Niemann-Pick community and will keep you updated as our development program continues."

The NNPDF will continue to keep you updated as we receive further updates pertaining to this important research and clinical work on behalf of our Niemann-Pick Disease type A and B (ASMD) community.

[June 16, 2014 ~ blg]


NNPDF Currently Funded Fellows ~ May 2014 Updates

The research funded by the NNPDF is made possible in great part due to the efforts of our member families and their extended support networks via local community-sponsored events, and to the support of the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF). The NNPDF is truly grateful for this support!

We're proud to provide our families with the latest update on two of our current fellows and their research as provided to the NNPDF.

Maetzel
Dorthea Maetzel, Ph.D.



Previously funded NNPDF fellow receives highest honor by having her NNPDF funded research, listed below, published from the Whitehead Institute press release.

Project:
 In Vitro modelling of Niemann-Pick type C Disease Using Patient-Specific Induced Pluripotent Stem Cells

Vite
Charles Vite, D.V.M., Ph.D.





Project: 
NPC Cat colony "Fellowships of the Cats II"

Stephanie Cologna
Stephanie Cologna, Ph.D.




Project: 
Differential Protein Expression Profiling in Cerebrospinal Fluid from Niemann-Pick Disease, type C1 Patients

Samaranch
Lluis Samaranch Gusi, Ph.D.



Project: 
AAV9-mediated human acid sphingomyelinase expression in nonhuman primate brain: Preclinical development of gene therapy for Niemann-Pick disease type A.

Andrew Munkacsi
Andrew Munkacsi, Ph.D.




Project: 
Defining the molecular basis of HDAC inhibitors to treat murine, feline, and human models of NPC

[May 29th, 2014 ~ blg]


Funded NNPDF Fellow Dorthea Maetzel
NPC1 iPSC Paper and Press Release

Dr. Dorthea Maetzel

Dear NNPDF Families and Friends,

The National Niemann-Pick Disease research advocacy groups of the United States and Canada (The National Niemann-Pick Disease Foundation and Canadian Chapter of the National Niemann-Pick Disease Foundation, respectively) are pleased to share with the wider NPD community the publication of the funded fellowship work of Dorthea Maetzel at the Whitehead Institute.

Below is not only her research paper, but the official press release from the Whitehead Institute in which the article appeared.

"Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells"

Research Press Release

We want to congratulate Dr. Maetzel for her exemplary efforts and talents!

 

[May 15th, 2014 ~ blg]


Scope

 

~Cyclodextrin Update~ 02/25/2014
NIH Update on NPC Cyclodextrin Trial

Extra

Dear NNPDF Families and Friends,

We received the following update from Dr. Denny Porter with reference to the NIH/TRND Cyclodextrin Clinical:

Dr. Porter advised: 
“We have hit a potential safety issue with the HPBCD trial.  The initial two kids who received the 300 mg dose demonstrated a grade 1 high frequency hearing loss on safety testing.  Grade 1 is the lowest level of severity.   Five other children have been exposed to the 300 mg dose.    We do not yet have safety testing on this group.  We will obtain this information over the next 3-4 weeks. We do not yet know if this is an idiosyncratic (the initial two kids are siblings) reaction or if this is going to be a general issue.   We have engaged the IRB and safety committee.  We will be engaging the FDA.   Our goals are to determine if we have a general safety issue and to figure out the best path forward.   Beyond the statement that a problem with hearing has been encountered and we are trying to figure out the safest and best way forward, there is not much that we can say.  There are multiple hypothetical paths forward at this time and the final plan is subject to information that we don’t have yet and input from other groups.  The uncertainty will remain for much of the next month.    We are not halting the trial.”      

Denny
Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHD

As Dr. Porter noted, all involved will need to wait until the children in the trial return back to the National Institutes of Health in Bethesda, Maryland for further testing before the multiple agencies involved will be able to make any additional determinations on how to proceed.  Of course, of utmost concern is that any action will ensure that “first and foremost” ~  the health and safety of all involved is in the forefront.

Thank you to all for their continued expertise, support and involvement in these efforts.

Kind regards,
Nadine

[Feb 25th, 2014 ~ blg]


 

Genzyme logo

 

Update from Genzyme on
Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
February 13th, 2014

 

 

Genzyme, a Sanofi company, is pleased to update the Niemann-Pick Disease patient community on the progress of our efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Recently, Dr. Simon Jones, MbChB, presented interim tolerability and safety information from our Phase 1b clinical trial at the WORLD Symposium, held in San Diego, CA. 

The title of the presentation was:

An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD). (The abstract is listed under # 112.)

For the full update, visit the Enzyme Replacement Therapy Page

 

[Feb 20th, 2014 ~ blg]

 


Lexington High School and Middle School
Releasing Balloons for Students in Clinical Trial

Ruthven
Kayla (13~ NPC) & Cody (18 ~ NPC) Ruthven

In Honor of the Ruthven Rockstars participation in the Cyclodextrin trial at the National Institutes of Health, the Lexington High and Middle Schools released 500 balloons on Monday, January 13th.

Cody & Kayla Ruthven are making their journey to Maryland for a two week stay to participate in the current drug trial for Cyclodextrin.  They are two of 9 children participating in the trial. After the first two weeks, they will return to the Institute once per month to receive the drug in hopes that it will save their lives.

The family has a blog specifically for their experiences while in the trial that can be found here: Cody and Kayla: On the Road to a Cure.

We wish Cody and Kayla the best of luck and look forward to sharing in this journey through their blog!

[Jan 15th, 2014 ~ blg]



NNPDF Funded Research in the News!

Microscope images showing different cellular phenotypes associated with cholesterol accumulation and autophagy impairment

The NNPDF Central Offices was recently forwarded the article below highlighting the work and results from NNPDF funded research fellowship grant.

Restarting Stalled Autophagy A Potential Approach to Treating Niemann-Pick Disease

The Whitehead Institute http://wi.mit.edu/news/archive/2014/restarting-stalled-autophagy-potential-approach-treating-niemann-pick-disease

Rudolf Jaenisch ~ Biology Professor at MIT (NNPDF Fellowship Research Sponsor)

Dorothea Maetzel, Ph.D. (NNPDF Funded Fellow)  http://nnpdf.org/FellowshipsFunded.html

A deep note of gratitude is due to the current NNPDF Scientific Advisory Board, with a special recognition to SAB Chair, Dan Ory, for their ongoing support and expertise in assisting the NNPDF with our research funding programs.  In addition, we wish to extend a kind and gracious note of thanks to NNPDF Funded Fellow, Ms. Dorothea Maetzel, Ph.D., who not only worked diligently on this study but also carried our NPD children and young adult patients and their families in her heart while spearheading this work.

We WILL PERSEVERE In Our QUEST FOR A CURE!

~ Nadine

[Jan 15th, 2014 ~ blg]


~ Community Alert ~
Reddit
Reddit "Ask Me Anything" Hosted by Dr. Chris Austin & Amy Dockser Marcus
Wednesday, December 4th ~ 1:00 p.m. ET

Dear Families and Friends,

Dr. Chris Austin from National Institutes of Health's National Center for Advancing Transitional Sciences (NCATS) will join Amy Dockser Marcus of the Wall Street Journal for a Reddit AMA  (short for “Ask Me Anything) at 1 p.m. ET on Wednesday, December 4.

Date: 12/04/2013, 1:00p.m. (ET)
Title: Reddit AMA: Rare Diseases and the Research Process
Participants: Everyone welcome!
Hosts: Dr. Chris Austin (NCATS) and Amy Dockser Marcus (Wall Street Journal)
Where: Reddit's Ask Me Anything (direct link to discussion)

Read the full discussion (PDF)

The discussion is open for everyone to participate as Dr. Austin & Amy Dockser Marcus answer readers’ questions about rare diseases and the research process.

"AMAs" (for "Ask Me Anything") are prompts for others to ask questions about any topic. AMAs are open to all Reddit users, and use the site's comment system for both questions and answers.

To register to participate: Click HERE
*no e-mail required to register

Once registered, you can visit the link (provided on 12/04/2013) and contribute by simply using the comments box to add to the discussion.

From the Wall Street Street Journal Blog:

For years, Christopher P. Austin has been trying to develop a way for science to build a better partnership with patients.

Dr. Austin is director of the National Center for Advancing Translational Sciences (NCATS), part of the NIH. NCATS is trying to find ways to get new treatments and cures for diseases delivered to patients faster.

At NCATS, Dr. Austin heads a state-of-the-art lab that uses robots to search for treatments.

In recent years, families of patients with rare diseases have made their way to the NIH to watch the robots at work in the $20 million, 30,000 square-foot system that includes refrigerators, automated incubators and computers. Machines work around-the-clock, testing hundreds of thousands of compounds against a variety of mostly rare diseases.

One of the first parents to visit was a woman whose college-age son had a rare cancer. During a tour in 2006, Dr. Austin told her that instead of 17 years to develop a new drug, he hoped that the lab could cut the time to 10 years.

“ ‘I love your technology,’ ’’ Dr. Austin recalled the woman saying. “ ‘I love your robots. I love this fancy stuff. But for my child and this disease, 10 years, 15 years, isn’t going to work. Isn’t there something else we can do?’ ’’

It is a question he hears again and again. There are roughly 7,000 known diseases; only about 500 have a treatment. Even with robots working day and night, Dr. Austin said, the arithmetic is discouraging.

We will bring you the link once it is available tomorrow so you can join in! Stay tuned!

[Dec 3rd, 2013 ~ blg]



WSJ

~Cyclodextrin Update~

“Trials ~ A Desperate Fight to Save Kids & Change Science”
By Amy Dockser Marcus ~ Staff writer for the Wall Street Journal
Dateline:  November 14, 2013

For six years, The Wall Street Journal followed a group of parents and scientists seeking a treatment for a rare and fatal genetic disease that strikes primarily children. Their collaboration accelerated development of a promising drug and, along the way, pushed the boundaries of medical research itself.

Follow this link to learn more about the story associated with Niemann-Pick Disease Type C here:

Trials: A Desperate Fight to Save Kids & Change Science

The members of the National Niemann-Pick Disease Foundation would like to offer a genuine note of thanks and heartfelt gratitude to the many individuals, families, community members, advocacy groups, as well as, esteemed members of the research and scientific community who all came together in a truly collaborative effort to see this process through to a clinical trial. 

A sincere note of thanks and appreciation goes out to this articles author, Amy Dockser Marcus, of The Wall Street Journal and her team of photographers, Evan Simon and Melissa Golden, for her unending devotion, dedication and perseverance, not only to the written word on the page which portrays the desperation and heartbreak that our Niemann-Pick Disease Families face at the diagnosis of their loved one, but to know how genuinely Ms. Marcus connected with the children and families she had the opportunity to work with.  She gathered them close, held them in her heart and helped them to build treasured memories.  For that, we are especially indebted.

Last, but certainly not least, are the sweet children and young adults diagnosed with Niemann-Pick Disease, whose families took the courageous step to move outside of their “safe-harbor” comfort zones and moved into the wider community and news media to share their families tragic diagnosis, knowledge, experience and personal sorrow. All of our Niemann-Pick Disease families will be forever grateful to those who braved sharing their heartbreak and personal circumstances for the wider NPD community.

We WILL one day, all stand together, hand-in-hand, and declare that we have Persevered in Our Quest for A Cure!

~ National Niemann-Pick Disease Foundation

[Nov 14th, 2013 ~ blg]


Orph

Orphazyme Update - 10/31/2013
Orph001 (rhHSP70) Project Progress

Dear Families and Friends,

The NNPDF Central Office received an update pertaining to the current research and clinical trial work as it relates to Orphazyme and their proposed clinical trial titled: Orph001 (rhHSP70).

Dear Reader,

We would like to update you about the progress of the Orph001 clinical development programme.

With the aim of reaching the highest achievable quality in standards and procedures certain amendments have been introduced into the Orph001 development programme to ensure full dose definition, and high alignment to regulatory recommendations and requirements in Europe and US.

Please, let us give you a short review of our development program and the steps ahead.

Click Here to read the full Press Release

Visit Orphazyme's web site

[Nov 5th, 2013 ~ blg]


NNPDF August 2nd, 2013 Presentations on Cyclodextrin in NPC Disease

2013FCPanels
Aug 2nd, 2013 Panel Discussion Participants (from left); Dr. Andrew Mulberg (FDA);  Dr. Elizabeth McNeil (NeuroNEXT), Dr. Steven Silber (J&J), Dr. Caroline Hastings (CHORI), Dr. Patti Dickson (UCLA), Dr. Forbes “Denny” Porter (NIH), Dr. John McKew (NIH/TRND), Dr. Sara Goldkind (FDA), Dr. Dan Ory (NNPDF SAB), Dr. Marc Patterson (NNPDF SAB)

Helm

On August 2nd, 2013 in Baltimore MD, the National Niemann-Pick Disease Foundation (NNPDF) hosted a morning session on the use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) as an experimental treatment of Niemann-Pick Type C (NPC) disease during its 21st Annual Family Support and Medical Conference .

To view the entire audio sessions, PowerPoint presentation and panel discussions ~ follow this link to the NNPDF Web site page titled:  NNPDF Aug 2nd, 2013 Presentation Cyclodextrin in NPC Disease.

For a full historical time-line, reports and Press Release Announcements on the cyclodextrin story, please refer to the National Niemann-Pick Disease Foundation Web Site "Cyclodextrin" page for more detailed information.  (http://www.nnpdf.org/Cyclodextrin.html )

In addition, more detailed information about the 21st Annual Family Support and medical conference can be located at:  http://www.nnpdf.org/familyservices_03.html

With follow-up photos and conference recaps at: http://www.nnpdf.org/FCRecaps.html

[Sept 11th, 2013 blg]



.

Mount Sinai Genetic Researchers Recognized for Work on Niemann-Pick Disease

Dear NNPDF Friends and Families,

Edward H. Schuchman, PhD, an esteemed member of the NNPDF Scientific Advisory Board Member (SAB), along with Robert J. Desnick, MD, who also had previously served on the NNPDF SAB, both of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai recently received “Inventors of the Year” award from the New York Intellectual Property Law Association (IPLA) for their work on Niemann-Pick disease.

The award pays tribute to individuals who have made worthwhile contributions to society by applying inventiveness to progress in science.

Their discoveries led to a drug for the treatment of Niemann-Pick Disease Type B ~ an orphan disease where the patient's cognitive and motor skills are severely impacted and leads to multiple complications; Dr. Schuchman and Dr. Desnick also discovered the genetic mutation causing the disease, and how to screen for it.   Niemann-Pick Types A and B are rare inherited lysosomal storage disorders that cause debilitating health complications and are often fatal, especially for children.  There are currently no approved treatments for Niemann-Pick A or B.

The work of Dr. Schuchman and Dr. Desnick has also led to a potential treatment, an enzyme replacement therapy, which is currently being tested in a Phase 1b trial with Genzyme Corporation in patients with Niemann-Pick B.  A Phase II trial is being planned.

The Board, patients and family members of the National Niemann-Pick Disease Foundation wish to wholeheartedly echo these notes of congratulations and acknowledgement to Dr. Schuchman & Dr. Desnick regarding the excellence of their work, in addition to their unending commitment and devotion to the patients and families affected by ASMD (NPD Type A & B). You are truly heroes in our eyes.

To view the full press release about the award Click Here.

We will Persevere in Our Quest for a Cure!

Nadine Hill

 

[August 30, 2013 blg]

 


Scope

Cyclodextrin Update - 08/22/2013
NIH Update on NPC Cyclodextrin Clinical Trial

Dear NNPDF Friends and Families,

We are happy to share an update from Dr. Forbes “Denny” Porter, at the National Institutes of Health (NIH), that the Investigational New Drug (IND) hold by the Food and Drug Administration (FDA) has been lifted and the NIH team is working diligently to get the Internal Review Board (IRB) approval of the changes requested by the FDA. 

Dr. Porter has indicated that they expect to have the NIH Cyclodextrin clinical trial going again in September of 2013.  The NNPDF anticipates posting/sharing more of the specific clinical trial details with the full NPC community once the IRB approval is received. 

In the interim, Dr. Porter and his team wish to share with the community that this important and integral step with the FDA had been resolved!

Congratulations to all who have worked so hard and diligently on getting this process moving forward on behalf of our NPC patients and community members.

[August 22, 2013 blg]


Three Medical Faculty Named Wolff Professors

.
Daniel C. Brennan, MD, Chyi-Song Hsieh, MD and Daniel S. Ory, MD.

 

Dear Families and Friends,

Dr. Daniel Ory, our esteemed National Niemann-Pick Disease Foundation Scientific Advisory Board Chair person, was one of three doctors to be named Alan A. and Edith L. Wolff Professors in their respective fields at the Washington University in St. Louis

As specified in the article, "The individuals named Wolff Professors today exemplify the character and caliber of researcher physicians the late Edith Wolff envisioned with her bequest".

A bequest by the late Edith L. Wolff to enable these and other professorships continues the legacy of support for medical research that characterized Edith L. Wolff’s life and that of her husband, the late Alan A. Wolff.

Click Here to view the full article on the Washington University in St. Louis web site.

Click Here for the PDF.

Below is a more detailed outline of Dr. Ory and his work on behalf of Niemann-Pick families.

Dr. Ory graduated from Harvard College and Harvard Medical School. After completion of his Internal Medicine residency at Brigham and Women’s Hospital in Boston and cardiology fellowship at Massachusetts General Hospital in Boston, he pursued postdoctoral training at the Whitehead Institute at MIT. Dr. Ory joined the faculty at Washington University in St. Louis in 1995.

Dr. Ory has been active in Niemann-Pick C (NPC) disease research for over 14 years. His early work in the NPC field was supported by the National Niemann-Pick Disease Foundation (NNPDF), and later by the Ara Parseghian Medical Research Foundation (APMRF). Dr. Ory’s research has focused on understanding the role of the NPC proteins in cholesterol metabolism, how genetic defects in Niemann-Pick C cause neurodegeneration, and on the development of disease biomarkers and new approaches to treatment. Dr. Ory currently leads SOAR-NPC, an international collaborative whose goal is to develop new therapies to NPC disease.

Dr. Ory has served on the Scientific Advisory Board for the NNPDF since 2002, and in 2007 was invited to serve as Chairman of the Scientific Advisory Board.

 

[August 8th, 2013 blg]


Group meeting

Orphazyme Announces Proposed Clinical Trial
of rhHSP70 for NPC

~ Apr 19th, 2013 ~


Dear NPD Community,

Orphazyme, a Danish biotech company, announced its intention to conduct a trial of rhHSP70 as a therapeutic intervention in NPC disease, at a scientific conference in Italy this week (15th-19th April 2013). 

Orphazyme has provided information for patients and families which will be generally available through patient organizations across the world. This information has been issued on the understanding that much has still to be confirmed / agreed by the regulatory authorities, so please be aware that some of the details may change.  View the Orphazyme Slide Presentation.

To assist you, we have produced an additional document that summarizes the main points:  View the: Orphazyme Trial Announcement Summary .

In order to facilitate communication further, Orphazyme intends to launch a web page for the trial and to include a “Frequently Asked Questions” section on the page.  As soon as this information is available, we will share it with you. Further information about Orphazyme can be found on their website: http://www.orphazyme.com/

[Apr 19th, 2013 blg]


Group meeting

NNPDF Fellowship Updates

~ Apr 18th, 2013 ~


Dear NPD Community,

The most recent lay summarys for our current fellowships can now be viewed on the Funded Fellowships page.

[Apr 18th, 2013 blg]


Group meeting

Michael, Marcia and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research

~ Apr 4th, 2013 ~


Dear NPD Community,

The annual Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann‐Pick Type C Research brings together researchers, supporters, families and children with NPC from around the world. Participants, representing 31 institutions and five foundations, include people from the United States, Canada, Brazil, Germany, the Netherlands, Switzerland, Australia and France.

This meeting includes the latest updates in research on Niemann-Pick type C from the experts that are conducting research.

For more information on dates, times and registration of all available conferences, Click Here.

[Apr 4th, 2013 blg]


Group meeting

Old Drug Offers New Hope Against Rare, Deadly Childhood Disease

~ Apr 4th, 2013 ~


Dear NPD Community,

An article was recently released about Dr. Ory, our NNPDF scientific advisor, and the National Institue of Health's research into Cyclodextrin and the NPC clinical trial.

“We’ve been studying this disease for many years, and we began looking at this drug in earnest about
five years ago,” Ory says. “In animal models of NPC, we see significant benefit in both neurological
function and survival. It’s superior to all other compounds we have tested in the animal models.”

The nine patients they are enrolling in this Phase 1 trial are being treated at the NIH Clinical Center
in Bethesda, MD. In St. Louis, Ory and his colleagues are tracking their progress with new techniques
developed at Washington University.

To view the full article, Click Here.

[Apr 4th, 2013 blg]


Group meeting

Peter G. Pentchev Fellowships Open for Applications

~ Mar 1st, 2013 ~


Dear NPD Community,

The National Niemann-Pick Disease Foundation (NNPDF) invites applications for postdoctoral research fellowships examining the biology of Niemann-Pick Type C (NPC) disease, a lethal neurodegenerative disease for which there are no effective therapies. 

M.D., Ph. D. and D.V.M. postdoctoral fellows are eligible to apply for funding to improve our understanding of the biology and pathogenesis of NPC disease.  Preference will be given to research projects developing new therapies for NPC and identifying biomarkers of disease activity for diagnosis and clinical trials.

Visit the Fellowships page for further information.

[Mar 1, 2013 blg]


Group meeting

Loire Valley Research Conference 2012 Highlights

~ Feb 19th, 2013 ~


Dear NPD Community,

The International Niemann-Pick Disease Alliance (INPDA) hosted the Loire Valley research conference in 2012.

The LVM is a unique international scientific meeting organized as part of the ongoing International Niemann-Pick Disease Association (INPDA) program of facilitating research into Niemann-Pick type C disease (NPC)
.

The meeting objectives were to bring together, in an open setting, a group of European scientists studying NPC or related diseases to:

  • Facilitate free and open discussions on the current state of research into the disease and, advances in the associated cellular anatomy and biochemical physiology.
  • Analyze research priorities and identify potential collaborations over the next 2 years.

To view the highlights from the conference, Click Here.

[Feb 19, 2013 blg]


Group meeting

NIH Announcement - Cyclodextrin Trial Update

~ January 31st, 2013 ~


Dear NPD Community,

The NNPDF central offices received the following update on the Cyclodextrin trial from the NIH Research Team.

"The NIH cyclodextrin trial has started and the first patient will receive the drug on Monday 2/4.  We are very excited to get started and to get data that will direct future studies of cyclodextrin in NPC.  We have been in contact with many families and would like to provide an update about the trial screening process.

The patients in this trial are grouped into "cohorts" of three patients each.  Because we did not know exactly when we would be able to start the trial, the first three patients were selected because they live relatively close to the NIH or were able to come to the NIH with very little notice (less than 2 weeks in one case).  Only the first 3 patients have been scheduled.  We have not yet filled the remaining slots for the trial.

The FDA asked us to start at a lower dose than we initially proposed.   The initial data from these first three patients will determine what exactly we will do next.  We decided that we will need to re-screen patients when we are ready to schedule the next cohort (patients 4, 5 and 6), in order to make sure they are still eligible.  This will also need to happen again with the last 3 patients.  We have a screening log of all individuals who we have screened and will be in touch with families when we are prepared to schedule the remaining slots in the trial.

We would like to thank you for your continued patience and we apologize for any delays in returning phone calls or emails.  We are doing our best to get this trial going as quickly and safely as possible so we can answer questions about cyclodextrin in NPC.  Please do not hesitate to contact us with additional questions.

The NIH NPC Research Team"

[Jan 31, 2013 blg]

 


Group meeting

Dr. Charles Vite Cyclodextrin Therapy Report

Dear Friends and Families,

Dr. Charles Vite, from the School of Veterinary Medicine in Pennsylvania, has been kind enough to send along his report from the presentation he gave over the summer.

To view it: Click Here

[Jan 17, 2013 blg]


Group meeting

Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin

~ November 28th, 2012 ~

                    Cyclodextrin (HP-β-CD) for NPC1 Disease

                               ~ Clinical Trial Strategy ~

UPDATE ~ November 28th, 2012 ~ UPDATE

Therapeutics for Rare and Neglected Diseases (TRND)

National Institutes of Health ~ Bethesda, MD

 

Dear National Niemann-Pick Disease Foundation Family Members,

The latest release pertaining to the upcoming NIH NPC clinical trial has been made available to the NNPDF. To view the NIH NPC Cyclodextrin Clinical Trial Flyer ~ dated: 11/28/12 ~ click here.

This study titled: 2-hydroxypropyl-B-cyclodextrin (HP-B-CD) in Niemann-Pick Disease, type C1, is in the process of being reviewed by the FDA and the team of researchers and physicians associated with the Therapeutics for Rare and Neglected Disease ~ Niemann-Pick Type C Disease Team (TRND NPC Team) at the NIH are hopeful that they will be able to begin enrolling patients in January of 2013.

The National Niemann-Pick Disease Foundation is pleased that we are able to forward this information along to our family membership. The NIH attached flyer specifies that interested parties should note your interest in possible trial participation by e-mailing a representative at the NIH: nichdnpc1@mail.nih.gov

Please note: If you do NOT have access to the internet or an e-mail account please contact the NNPDF Central Offices at the 920-563-0930 and we will assist you in reaching the appropriate contact individual(s) at the NIH for more information.

This is indeed, a very exciting time for all of our NNPDF family community and, more importantly, all of our precious loved ones diagnosed with Niemann-Pick Disease Type C.

We WILL Persevere in our Quest for a Cure!

Kind Regards,Nadine M. Hill

Executive Director; National Niemann-Pick Disease Foundation

For a historical timeline on the Cyclodextrin (HP-β-CD) for NPC1 Disease Clinical Strategy ~ outlined by the NNPDF ~ please follow the link above.

[Nov 28, 2012 nmh]


Group meeting

National Niemann-Pick Disease Foundation Research Post-Doctoral Fellowship Funding Announcement

~Oct/Nov 2012~

The National Niemann Pick Disease Foundation (NNPDF) has chosen to fund post doctoral fellowships for the past several years.  These fellowships support a post doctoral fellow to work on a research project in the field of Niemann-Pick Disease for a period of two years.  The NNPDF has utilized strategies to allocate funds raised by NPD families by disease type to support these specific NPD disease focused fellowships.

In the past several years, NNPDF has been able to fund a number of fellowships for Niemann-Pick Disease Type C. These are called the Peter G. Pentchev Research Fellowships and the NNPDF in conjunction with the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) are currently funding the work of five (5) Peter Pentchev fellowships.

This year we were able to establish a fellowship for Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease) research entitled the Edward H. Schuchman Research Fellowship for ASMD Niemann Pick Disease.  We received 5 strong applications for the fellowship and I am pleased to announce that the first Edward H. Schuchman Fellowship has been awarded to Dr. Lluis Samaranch Gusi (sponsor Dr. Krystof S. Bankiewicz, MD, Ph.D.) at the University of California San Francisco.

This fellowship research project is entitled: “AAV9 mediated human acid sphingomyelinase expression in the non-human primate brain; Preclinical development of gene therapy for Niemann-Pick Disease Type A”.  The goal of this project is to develop a treatment for the neurological consequences of Niemann-Pick Type A Disease.   This project will evaluate the feasibility of delivering an adeno-associated virus encoding human acid sphingomyelinase globally into the brain by injection of a vector into the brain and/or the spinal canal.

Respectfully submitted by:
Sandra Cowie
NNPDF Research Committee Co-chair

For more detailed information please Click here.

For information on the history of Research funding you can visit the following pages:

[Nov. 27, 2012 blg]


Genzyme logo

Update on Clinical Trial of Enzyme Replacement Therapy (ERT)
for Acid Sphingomyelinase Deficiency (ASMD)

Dateline:  November 15th, 2012 ~ The National Niemann-Pick Disease Foundation (NNPDF) has been staying in touch with representatives from Genzyme with regard to the completion of the Phase I and the status of Phase 2 of the Enzyme Replacement Therapy (ERT) clinical trial for Acid Sphingomyelinase Deficiency (ASMD) NPD Type B. 

This program remains a key priority for Sanofi. They are committed to the Niemann-Pick community and have provided the NNPDF with the following update on the Genzyme-sponsored Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials.

To that end, the Enxyme Replacement Therapy (ERT) team has made the following announcement available to the NNPDF Acid Sphingomyelinase Deficiency (ASMD) NPD Type B. 

In addition, the NNPDF has created an historical time-line outlining strategic infomation given to the NNPDF during the development of the ERT clinical trial.  Follow this link for more information.

If you have any questions regarding this update ~ please feel free to contact the NNPDF Central Office at:  1-877-287-3672.  The NNPDF will continue to bring you more information as it becomes available. 

Kind regards,
Nadine

[Nov. 21, 2012 nmh]



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, 2012. 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 nyanjanin@mail.nih.gov

Respectfully submitted by:

TRND NPC Team

Therapeutics for Rare and Neglected Disease ~ Niemann-Pick Type C Disease Team

For additioanl updates and background on the Cyclodextrin Trials at NIH follow the NNPDF Web site Cyclodextrin page.

[Nov 14, 2012 nmh]


U.S. FDA Safety and Innovation Act Signed:  Monumental Step Toward Development of
Safe and Effective Treatments for Americans With Rare Diseases

The FDA Safety and Innovation Act (FDASIA), signed by President Obama July 9, contains the most groundbreaking measures for rare disease patients and their families since the Orphan Drug Act of 1983, according to the the National Organization for Rare Disorders (NORD).

"This legislation represents true progress for people with rare diseases, who often struggle to access treatments for their disorders," NORD President and CEO Peter L. Saltonstall said. 

Specific to the rare disease community, the Act provides the following:

Read the full NORD press release here.

[July 12, 2012 mem]


Mount Sinai Study Looks at Skeletal Manifestations in NPB

The abstract of an article on a study titled Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B has been posted to PubMed.    The study's authors include Dr. Melissa Wasserstein, a physician well-known to many NNPDF members, and others from the Department of Genetics and Genomic Sciences at Mount Sinai School of Medicine, New York.

The article concludes:  "Skeletal involvement is a common and previously unrecognized manifestation of NPD-B. The association between splenomegaly and BMD lends further support to spleen size as an indicator of disease severity."

Read the abstract here.

[June 25, 2012 mem]


Genzyme logo

Update on Clinical Trial of Enzyme Replacement Therapy (ERT)
for Acid Sphingomyelinase Deficiency (ASMD)

The National Niemann-Pick Disease Foundation (NNPDF) has been staying in touch with representatives from Genzyme with regard to the status of Phase 2 of the Enzyme Replacement Therapy (ERT) clinical trial for Acid Sphingomyelinase Deficiency (ASMD) NPD Type B.  It seems there has been some confusion among members of the ASMD community; please note that we have contacted Genzyme and confirmed that the Phase 2 trial has not been cancelled and the Genzyme/Sanofi Company is committed to the ongoing support of our NPD Type A and B patients and families.

Genzyme has advised that they are still actively preparing for a Phase 2 clinical trial for enzyme replacement therapy in ASMD/NPD Type B. The trial is expected to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks.

The program remains a key priority for Sanofi. They are committed to the Niemann-Pick community and have provided the NNPDF with the following update on the Genzyme-sponsored Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials.

If you have any questions regarding this update ~ please feel free to contact the NNPDF Central Office at:  1-877-287-3672.  The NNPDF will continue to bring you more information as it becomes available. 

Kind regards,
Nadine

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials

Genzyme, a Sanofi company, 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).

We are actively preparing for a Phase 2 clinical trial of rhASM in Niemann-Pick B patients to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks.  In preparation for the trial, we have sought feedback from the FDA, are evaluating potential study centers worldwide, and are assessing our short- and long-term manufacturing plans.

We are also beginning to schedule the long-term follow-up visits for the natural history study of Niemann-Pick B patients that began in 2001 in the US, France, Italy, Germany, and Brazil.  These vists are expected to yield important information about disease progression in the absence of treatment and may be included in a potential drug application filing in the future.

Our entire organization, from the Genzyme rare disease team to our colleagues at Sanofi, is committed to the development of rhASM and to addressing the unmet medical need of patients with ASMD.

We appreciate the support of the global Niemann-Pick disease community and will provide another update as soon as we are able to confirm a start date for the Phase 2 clinical trial.

Genzyme
500 Kendall Street
Cambridge, MA  02142
www.genzyme.com

[Apr 26, 2012 mem]


Blood Draws to Support NPC Research

Phlebotomist Blood Draw Team

Two blood draws coordinated by NNPDF family volunteers will support research into a blood test to diagnose Niemann-Pick Disease Type C (NPC).  The diagnostic blood test is expected to provide a faster, easier and more comfortable method than the current skin punch biopsy diagnostic test.

Karen Quandt, mother of 15-year-old Ty Quandt (NPC), organized a blood draw earlier this month to collect samples from healthy (non-NPD) teens to serve as pediatric control samples (see photos above). Rebecca Spencer, mother of 6-year-old Johnathan Spencer (NPC), is organizing a blood draw for April, in which samples from younger non-NPD children will be drawn for the same purpose.

The research is being done at the National Institutes of Health (NIH) in Bethesda, Maryland, and at Washington University School of Medicine in St. Louis, Missouri.

Thank you to Karen, Rebecca, the volunteers, and especially the donors, for participating in this important project!

[Mar 20, 2012 mem]


Scientist with microscope

Request for Applications for Edward H. Schuchman Research Fellowship
Funding Research into Acid Sphingomyelinase Deficiency
(ASMD/Types A and B Niemann-Pick Disease)
Deadline for Applications -- May 1, 2012

The National Niemann-Pick Disease Foundation is pleased to announce a request for applications for the 2012 Edward H. Schuchman Research Fellowship, examining the biology of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease). 

The National Niemann-Pick Disease Foundation invites applications for a postdoctoral research fellowship examining the biology of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease), a lysosomal storage disease of varying symptoms, onset and complexity.

M.D., Ph.D., and/or D.V.M. postdoctoral fellows are eligible to apply for funding to improve our understanding of the biology and pathogenesis of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease).  Preference will be given to research projects developing new therapies for ASMD, and for identifying biomarkers to improve diagnosis or to monitor disease progression and efficacy in clinical trials.

The fellowship provides support of $40,000 per annum for two years and may be renewable based on performance.  Applicants must be currently associated with a recognized laboratory.

This fellowship is named for Edward H. Schuchman, Ph.D. of Mount Sinai School of Medicine, a pioneer in ASMD research and supporter of those affected by Niemann-Pick Disease.

Applications are due May 1, 2012, and should be submitted by email to the Research Committee Chair.  Applicants will be informed of the funding decision by August 15, 2012, via email.  Fellowships awarded will begin September 1, 2012.

More information and application procedures.

[Mar 9, 2012 mem]


Parseghian Conference for NPC Research
University of Notre Dame
June 7 - 9, 2012

The Michael, Marcia and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research will be held at the University of Notre Dame in South Bend, Indiana, on June 7th-9th, 2012.

For more information about the conference, including registration links, visit:  http://niemannpick.nd.edu/conference/ or  the Notre Dame Conference Center page.

[Mar 1, 2012 mem]


Request for Applications for Peter G. Pentchev Research Fellowship
Funding Research into Niemann-Pick Disease Type C
Deadline for Applications -- May 1, 2012

The National Niemann-Pick Disease Foundation is pleased to announce a request for applications for the 2012 Peter G. Pentchev Research Fellowship, examining the biology of Niemann-Pick Disease Type C. 

M.D., Ph.D. and D.V.M. postdoctoral researchers are eligible to apply for funding to improve our understanding of the biology and pathogenesis of NPC disease.   Preference will be given to research projects developing new therapies for NPC, and identifying biomarkers of disease activity for diagnosis and clinical trials.

The Pentchev Fellowships provide support of $50,000 per year for two years and may be renewable based on performance.  Applications are due May 1, 2012, and fellowships awarded will begin September 1, 2012.

 

Visit http://www.nnpdf.org/npresearch_01.html and http://www.nnpdf.org/PeterPentchevResearchFellowship.html  for more information about the NNPDF ’s program of research and the application process for the Pentchev Fellowship.   Read about current and past NNPDF-funded research projects at:  http://www.nnpdf.org/FellowshipsFunded.html.

Flyer/poster (pdf)

[Feb 29, 2012 mem]


nurse taking blood pressure of patient

NIH Clinical Research Trials and You
New Web Site Launched

The NIH (U.S.) recently announced the launch of a new Web site titled NIH Clinical Research Trials and You, geared for those considering participating in a clinical trial.  

According to the press release announcing the new site, "Clinical trials are essential for identifying and understanding ways to prevent, diagnose, and treat disease. Research has shown that among the greatest challenges to recruitment of volunteers is the lack of general knowledge about what trials involve, where they are carried out, and who may participate."

This new Web site aims to help potential participants learn about clinical trials and make an informed decision about whether they should take part.  The site includes sections on "The Basics," "Volunteer Stories," "Researcher Stories," "Finding a Trial."  Also, "For Health Care Providers," "Educational Resources," a glossary of terms, and much more.

Visit the new site at http://www.nih.gov/health/clinicaltrials/ to learn more.

[Feb 14, 2012 mem]


Group meeting

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]


Update -- Upcoming Cyclodextrin Trial
National Institutes of Health (NIH)

A message from Dr. Denny Porter at NIH:

[Here is] an update on the TRND FDA meeting held this past Tuesday.  We still have a lot of hard work to do, but the meeting was positive.  I am including a picture of the TRND Team that participated in this meeting.  It is an impressive collection of expertise and this group has greatly facilitated moving the effort to develop a safe and effective therapy for NPC forward.  We know the photo is missing one critical facet of the team - the families.

Thank you for your support.

Denny, Nicole and Nuria

Forbes D. Porter, MD, PhD; Senior Investigator, PDGEN, NICHD
Acting Program Director, PDGEN, NICHD; Clinical Director, NICHD

 Follow this link to read the November 4th, 2011, announcement:     Cyclodextrin Trial Update 11-4-11

NPC Team TRND FDA Nov 1 2011

                           Members of the 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)

For more background on the upcoming cyclodextrin trial visit the NNPDF's Cyclodextrin Clinical Trial page.

[Nov.4, 2011 nmh]


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]


NPC Researchers' Work Highlighted in
Journal of Biological Chemistry

A paper authored by Andrew Munkacsi, Ph.D., et al, was selected as 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]


Ebola Research finds Link to NPC1 Protein

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.

Links to the articles appear below:

Ebola virus entry requires the cholesterol transporter Niemann-Pick C1

Small molecule inhibitors reveal Niemann-Pick C1 is essential for Ebola virus infection

[Sept 6, 2011 mem]


Major Breakthrough in Amyotrophic Lateral Sclerosis
Findings Could Affect Research into Other Diseases of Dementia

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]


Ara Parseghian Medical Research Foundation

2011 Scientific Conference on NPC
Hosted by Notre Dame College of Science

The Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C Research was held June 9th -11th at Notre Dame University. Researchers, physicians, and parents of NPC children came together from all over the world to attend this scientific conference to share Niemann-Pick Type C research project results and related information.

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.
Abstract

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]


Doctor with child and its mother

Wall Street Journal Health Blog Article: 
Cyclodextrin Results in Mice May Help Shape Clinical Trial for NPC

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]


microscope

NPD Research News
WORLD Symposium, Gordon Conference, and NPC Updates Conference Call

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 thess important updates for our families!

[May 19, 2010 mem]


Europe's largest stem cell clinic shut down after death of baby

Europe's largest stem cell clinic has been shut down after the death of a baby who received an injection into the brain.  The closure of the XCell-Centre in Dusseldorf, German, follows an undercover investigation into its controversial practices, allowed by a loophole in German laws allowing the center to charge for the experimental procedures.

Most other European countries, along with the U.S., Canada and Australia, have banned stem cell treatments unless proven to be safe and effective.

Read the article by Robert Mendick and Allan Hall, posted by The Telegraph on May 18.

[May 18, 2011 mem]


Doctor with child and its mother

NIH to Develop Clinical Trial Utilizing Cyclodextrin
Informational Conference Call to be Scheduled

The National Institutes of Health (NIH) (U.S.), 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. Follow this link to view an abstract of this paper at PNAS:  http://www.pnas.org/content/early/2011/03/15/1014890108

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.  Follow this link to view the Notre Dame press release dated March 21, 2011:  http://www.eurekalert.org/pub_releases/2011-03/uond-bin032111.php

Daniel Ory, M.D., Washington University School of Medicine, and Chair of the NNPDF’s Scientific Advisory Board, responded to our inquiry:

The results are promising, but represent an early step in the process of identifying effective compounds for NPC.  More cell studies are needed to understand the mechanism [and] mouse studies should be pursued….there is a long history of compounds that are effective in reducing cholesterol in cultured cells but do not have benefits in animal models, so we should be cautious in extrapolating such results to humans.

Marc C. Patterson, M.D., Chair of the Division of Child and Adolescent Neurology at Mayo Clinic, also a member of the NNPDF’s SAB, further cautioned against making premature assumptions:

The work was done in cultured fibroblasts, so one should be very cautious about extrapolating these data to animals or humans.  Moreover, the work was done in cells expressing one or two I1061T NPC1 mutations, and may not be relevant to other mutations; it was not effective in an NPC2 mutant cell line.  Of note, the late Dick Pagano showed dramatic reversal of trafficking abnormalities and filipin staining in NPC fibroblasts in which rab 7 and 9 were overexpressed, but much more modest results in transgenic mice with NPC1 mutations and rab overexpression. 

Mouse studies could certainly be justified, but it would be premature to assume that this approach will be applicable in humans with NPC.

Forbes “Denny” Porter, M.D., Ph.D., of the National Institute of Child Health and Human Development at the National Institutes of Health (NIH), stated, “It is always good news to have a potential new approach to treating NPC.  Cells are the starting point, but to translate this to a potential therapy more work needs to be done.”

The paper by Wiest, Helquist and Maxfield does not name the specific histone deacetylase inhibitor. Histone deacetylase inhibitors (referred to as HDAC inhibitors) are a class of compounds that interfere with the function of histone deactylase.  HDAC inhibitors have a history of use in psychiatry and neurology as mood stabilizers and anti-epileptics. 

One HDAC inhibitor, valproic acid, was considered as a possible treatment for NPC, but results have not been overly promising.

Yiannis Ioannou, Ph.D., Department of Genetics and Genomic Sciences at Mount Sinai School of Medicine, also a member of the NNPDF’s SAB, made the following statement regarding his recent study of valproic acid and NPC:

We have just concluded our mouse studies on valproic acid and have evaluated its effect on cells from a number of NPC patients and on the NPC mouse.  Unfortunately, the results are not great.

  •  For NPC patient cell lines we have treated six different lines with valproate.  Some cells responded positively; i.e., the cholesterol storage was cleared but some lines were completely resistant to the treatment.  Upon analysis of our data it became clear that if the patient has a relatively mild mutation then they would respond to valproate, whereas if the mutation is more severe, then the cells don’t respond.
  • With respect to the mouse study, we have treated about 25 mice with daily dosing of valproate.  We can extend the life of these mice by about 10%.  The mice live about 122 days on average vs. 108 days for the untreated mice.

At this point we don’t think that valproic acid would be beneficial for NPC patients.

Some years ago, valproic acid was given to a few NPC patients, including Stacey Vorpahl (1985-2004), the daughter of Gary and Barbara Vorpahl of Fort Atkinson, Wisconsin for the treatment of seizures.  Barb, Vice Chair of the NNPDF Board of Directors, recently posted to the NNPDF listserv group about her family’s experience with valproic acid (as Depakote):

We did have Stacey on valproic acid (Depakote) for seizures when she first started having seizures.  This was at age seven.  Once she started Depakote we saw a rapid decline.  One of the side effects is muscle weakness.  It can also actually cause seizures at higher doses.  She was on Depakote for about a year.  She quit talking, needed a wheelchair, could no longer sit up or roll over by herself.  We didn’t think she would survive to age 8 at her rate of deterioration.  We thought the decline was from NPC but after comparing notes with other parents and seeing strange seizures that their children were also experiencing when doses were increased, we decided to gradually wean her off of Depakote and try another seizure medication.  It was like bringing her back from the dead.  We saw her strength start coming back, alertness level [sic], her talking never resumed but she did have strength to walk with assistance.  I know others have had success with valproic acid but for Stacey it was a very negative experience.  I was very surprised when I saw research coming out on valproic acid.  It may work in mice but it certainly did not help our daughter even controlling seizures.

This summary was compiled by the NNPDF Central Office staff with thanks to the members of our esteemed Scientific Advisory Board.  (March 31, 2011)

The National Niemann-Pick Disease Foundation (NNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on this Web site does not constitute medical advice. For all information related to care, medication or treatment, the NNPDF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided on the Internet.

[April 5, 2011 mem]


Webinar with NIH Director Dr. Francis Collins about the Proposed
National Center for Advancing Translational Sciences (NCATS)

Dr Francis Collins of NIH
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
Request for Applications


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]


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]


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-focused 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]


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]


NIH Rare Diseases Clinical Research Network (RDCRN)

The NIH Rare Diseases Clinical Research Network (RDCRN) comprises 19 consortia involving some 80 investigators at over 70 academic institutions. This program and its Data Management Coordinating Center (DMCC) are receiving an aggregate total of $117 million over five years. The research conducted with the new funding will explore the natural history, epidemiology, diagnosis, and treatment of more than 95 rare diseases.

Initially created in 2003, the RDCRN is unique in its approach to addressing disease. Previously, the NIH's institutes and centers funded research on individual rare diseases. The RDCRN is the first program that aims to create a specialized infrastructure to support groups of rare diseases that are related.

Since its creation, the RDCRN has enrolled over 6,600 patients into 48 clinical studies in rare diseases.

To read more about the RDCRN, visit:  http://rarediseasesnetwork.epi.usf.edu/spotlight/december2010/rdcrn2.htm

[Dec 9, 2010 mem]


Introducing "Spotlight on Rare Diseases"
E-Newsletter from NIH's RDCRN

The NIH Rare Diseases Clinical Research Network (RDCRN) has launched a quarterly e-newsletter to highlight the mission and dynamism of the RDCRN. Visit the link below to see the December 2010 issue of Spotlight on Rare Diseases.

Spotlight on Rare Diseases e-Newsletter

[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.

The article is summarized as follows:

Oxidative stress is caused by an imbalance between the production of reactive oxygen and a biological system's ability to detoxify the reactive intermediates or easily repair the resulting damage.  Increased oxidative stress has been reported in human NPC1 mutant fibroblasts and in tissues from Npc1 mutant mice. However, oxidative stress in NPC patients has not been established. This study demonstrated increased oxidative stress in NPC patients.  

Blood samples from 37 children and adults with NPC were tested.  Compared to control values, the NPC samples showed significant decreases in both the fraction of reduced coenzyme Q10 (CoQ10) and Trolox equivalent antioxidant capacity (TEAC). Reduced CoQ10 functions as an antioxidant protecting cells from oxidative damage.  Trolox is used as a reference substance to measure the combined antioxidant capacity in biological specimens.  Both findings are consistent with increased oxidative stress in NPC.  However, supplementation with CoQ10 was not effective in correcting the decreased fraction of reduced CoQ10.

Demonstration of increased oxidative stress in NPC patients provides both a rationale and the biomarkers necessary to test the efficacy of antioxidant therapy in NPC.

Click here to read the entire article.

[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

[Nov 15, 2010 mem]


Updates from Peter G. Pentchev Research Fellows

Dr. Fabrizio Vacca and Dr. Ian Williams have provided us with updates on their research projects currently underway:

Fabrizio Vacca, Ph.D.; Sponsor: Professor Jean Gruenberg; (University of Geneva, Switzerland)
Analysis of cholesterol export from purified endosomes in NPC cellular models
Lay Summary with Sept 2010 Update

Ian Williams, Ph.D.; Sponsor: Professor Fran Platt; (University of Oxford, UK)
Neurobiology of Purkinje Cells in NPC1
Lay Summary with Sept 2010 Update

Click here to read about the projects of our two newest fellows, Drs. Nicholas Cianciola and Dorothea Maetzel.

[Nov 12, 2010 mem]


Diagnosis of NPC May Soon be Possible 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), also on the NNPDF's SAB; and Nicole Yanjanin, R.N., NIH, and 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]


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.  Click here to view the conference agenda.

Suzanne R. Pfeffer of the Stanford University School of Medicine, Department of Biochemistry, provided us with this APMRF Scientific Conference Overview.  

The APMRF conference abstracts, with additional notes by NNPDF Board Chair Karen Quandt, are available here

The NNPDF holds the greatest respect and gratitude toward the APMRF (Cindy Parseghian, President) and the NPC research advancements it has spearheaded over the years. The work of all involved at the APMRF has opened many doors and established new and innovative ways to encourage more communication between scientists. 

The APMRF has been instrumental in bringing together NPC researchers from around the world to share in their knowledge and findings.  In addition, the foundation has played an integral part in drawing new researchers into the NPC scientific field.  Without these efforts much of the progress we have seen in NPC would not have occurred. 

We are all truly grateful for the work of the APMRF and the entire Parseghian family in memory of their children ~ Michael, Marcia and Christa.

For more information about the APMRF, please visit their Web site at http://www.parseghian.org


[Oct 14, 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 14, 2010 mem]


2010 Peter G. Pentchev Postdoctoral Fellowships Awarded

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 NNPDF's Scientific Advisory Board (SAB).  The SAB then made recommendations to the NNPDF's Research Committee and Board of Directors

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.

Dr. Cianciola's sponsor at the School of Medicine, Case Western Reserve University (Cleveland, OH) , is Dr. Cathleen Carlin. 


To read Dr. Cianciola's Lay Summary of the project, click here.

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.

Dr. Maetzel's sponsor at the Whitehead Institute for Biomedical Research (Cambridge, MA) is Dr. Rudolf Jaenisch.

To read Dr. Maetzel's Lay Summary of the project, click here.

 

The fellowships are named for Peter G. Pentchev, Ph.D., Emeritus Scientist.  Dr. Pentchev's career was as a senior research scientist at the National Institute of Neurological Disorders and Stroke (NINDS).  To read a tribute to Dr. Pentchev from NNPDF Board Member Barb Vorpahl, click here.

Congratulations to Drs. Cianciola and Maetzel, and many thanks for your work to advance Our Quest for a Cure!

And many thanks also to the CCNNPDF for its support of research administered through the NNPDF!  Working together we can make a difference!

[Sept 14, 2010 mem]


Hearing on Rare and Neglected Pediatric Diseases

On Wednesday, July 21, the US Senate Committee on Health, Education, Labor, and Pensions held a hearing entitled, "Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures."

A panel at the hearing featured Dr. Jesse Goodman, chief scientist at the FDA, and Dr. Alan Guttmacher, the new director of the National Institute of Child Health and Human Development of the National Institutes of Health. A second panel included representatives from various non-governmental organizations.

Participants  advocated for a range of solutions, including increased federal funding for clinical registries, more stringent guidelines for patient registries, and establishing a federal policy in regards to orphan drugs and rare diseases; all of which would have an ultimate goal of encouraging researchers to develop drugs for those rare diseases that currently have none.

For more information and a video, visit: http://help.senate.gov/hearings/hearing/?id=d132692d-5056-9502-5da9-23c77808a20f

[Sept 1, 2010 mem]


Promising Therapies for Niemann-Pick Type C Disease
National Institute of Neurological Disorders and Stroke Meeting
June 2010

We have had quite a bit of discussion on our 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 9, 2010 mem]


Niemann-Pick Type C Pathogenesis and Treatment:  From Statins to Sugars
Moneek Madra and Stephen L. Sturley

A paper titled Niemann-Pick type C pathogenesis and treatment:  from statins to sugars was recently published.  The paper is by Moneek Madra, Department of Pediatrics, and Stephen L. Sturley, Institute of Human Nutrition, both of Columbia University Medical Center in New York, New York.   Click here for the pdf.

[June 9, 2010 mem]


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 25, 2010 mem]

Are Stem Cells or Gene Replacement Viable Therapies for NPC?

April 13, 2010: In response to recent questions from NPC families, the NNPDF asked Dr. Dan Ory, Chair of the Foundation's Scientific Advisory Board, about the possibility of using either stem cells or gene replacement as therapies for Niemann-Pick Disease Type C. 

Here is Dr. Ory's response: 

I know of no evidence that gene replacement therapy is effective for NPC disease. There may be work going on in this area, but there is nothing promising on the horizon.

[ Re. the suggestion ]... that stem cell therapy is efficacious in the NPC1 mouse model... I am not aware of this. In fact, in my own lab I replicated the experiments done by labs claiming to show benefit from stem cell transplantation, only to find that the protocols actually worsened symptoms and shortened the life span of the mice. Any claim that with our current technology that stem cell transplantation is beneficial should be met with extreme skepticism.

[Apr 15, 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]


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]


United States FDA Advisory Committee Backs Use of Zavesca for NPC
Significant Step Toward Possible FDA Approval

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 an historic step, as this would be the first authorized treatment for the symptoms of NPC in the United States.

Please visit our Newsline page for more details.  Also, read the Reuter's article about the panel's review and recommendation here.

[Jan 13, 2009 mem]


Research Committee Chair's Report -- December 2009


More Details on Cyclodextrin from Dr. Dietschy's Lab

Work continues in Dr. John Dietschy's lab at UT Southwestern (Texas), aimed at understanding the way cyclodextrin works in NPC cells and the effect of its administration at various stages of disease in the NPC1 mouse. A recent paper shows reversal of cholesterol storage and decreased inflammation in a variety of tissues 48 hours after administration of cyclodextrin. However, lifespan of the NPC1 mouse is extended only following very early administration of the compound. Research continues.

For more details, visit:  http://www.jlr.org/cgi/rapidpdf/jlr.M000257v1

[Dec 21, 2009 mem]


Adenovirus RID-{alpha} activates an autonomous cholesterol regulatory mechanism
that rescues defects linked to Niemann-Pick disease type C

An adenovirus membrane protein called RID-α (RID-alpha) may provide a route to bypass the lipid-sorting defects in cells of patients who have NPC by providing an alternate pathway for cholesterol trafficking.

Learn more at:

Abstract http://jcb.rupress.org/cgi/content/abstract/187/4/537  
Podcast http://jcb.rupress.org/cgi/content/full/jcb.200903039/DC2

[Dec 21, 2009 mem]


Stem Cell Derived Neurons for Research Relevant to
Alzheimer's and Niemann-Pick Type C Diseases

Work being done in the lab of award-winning scientist Dr. Lawrence Goldstein at the University of California, San Diego, looks at the relationship between Niemann-Pick disease, type C and Alzheimer disease. Failure of proper transport of proteins, lipids and other materials may play a significant role in the cell breakdown and death in these 2 diseases. To learn more, click the following link:   http://www.sciencedaily.com/releases/2009/12/091209134627.htm

[Dec 21, 2009 mem]


Edinburgh Neuroscience Christmas Lecture 2009

While the following link will take you to a fairly technical overview , for those who are interested in the potential for stem cell therapies, it is a fascinating lecture. Two University of Edinburgh, Scotland, professors provide a review of the current status of developments in stem cell research and future applications to clinical medicine. Their focus is on neurological disorders such as Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig disease) and Parkinson disease. Their initial work focuses on study of genes that are active in regenerating brain tissue, something that does happen, but which becomes less efficient with age. They look at targeting expression of these genes through use of medications in order to carry out brain repair. They also look at use of stem cells, both embryonic stem cells and those created from adult cell lines. Note that this is an overview and some issues, such as the difficulties encountered with aging of "embryonic" stem cells produced from adult cells, are not discussed.

http://www.edinburghneuroscience.ed.ac.uk/ChristmasLecture/2009/Index.html

[Dec 21, 2009 mem]


New Postdoctoral Research Fellowships

The NNPDF is very pleased that contracts have been finalized for the first two Peter G. Pentchev Research Fellowships.  Visit our Current and Recent Research Grants page for links to read the lay summaries of fellows Dr. Ian Williams and Dr. Fabrizio Vacca.

[Dec 18, 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]


New Paper on Cyclodextrin
"Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport
of cholesterol in Niemann-Pick type C cells."

Research from the lab of Drs. Michael Brown and Joseph Goldstein was recently published online (in advance of print publication) in a highly regarded scientific journal, The Proceedings of the National Academy of Science. The abstract, or summary, of the work is available at:

http://www.ncbi.nlm.nih.gov/pubmed/19884502?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=1

The paper provides details about the processing of cholesterol in NPC1-deficient cells if it can be released from the lysosomes, and about how cyclodextrin assists in moving cholesterol out of the lysosome and into the cell cytoplasm, where they hypothesize that it will be less damaging to cell function.

The authors note that additional study is needed to understand whether there are specific conditions under which the cyclodextrin works to move cholesterol, and the specific way it works, which is not yet understood.

The full paper should be available in about six months. We look forward to reading more about this work in the future.

Please contact me if you have any questions..

Cate Walsh Vockley, MS, CGC
Coordinator of Education, Referral and Advocacy
National Niemann-Pick Disease Foundation
Senior Genetic Counselor
412-692-7349
catherine.walshvockley@chp.edu

[Nov 16, 2009 mem]


Psychosocial Aspects of Niemann-Pick Disease, Type B
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]


New Paper from Dr. Wraith and Jackie Imrie
"New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat"

A new paper by Dr. James E. "Ed" Wraith and Jackie Imrie, regarding Miglustat (Zavesca) and NPC, was published recently.  Please visit Dovepress to read the abstract and the complete document.

[Nov 10, 2009 mem]


Study Conclusively Ties Rare Disease Gene to Parkinson's Disease
Dr. Ellen Sidransky’s Research Regarding Gaucher and Parkinson Disease

"An international team led by a National Institutes of Health researcher has found that carriers of a rare, genetic condition called Gaucher disease face a risk of developing Parkinson’s disease more than five times greater than the general public. The findings were published ... in the New England Journal of Medicine.

In previous studies, several genes have been linked to Parkinson's disease. However, researchers say their work conclusively shows that mutations in the gene responsible for Gaucher disease are among the most significant risk factors found to date for Parkinson's disease. The discovery was made by investigators from the National Human Genome Research Institute (NHGRI) and the National Institute on Aging (NIA), both parts of the National Institutes of Health, in collaboration with scientists from 16 research centers across four continents.

'This analysis illustrates how studying a rare but important disorder, like Gaucher disease, can provide powerful clues about more common disorders, such as Parkinson's disease," said NHGRI Scientific Director Eric Green, M.D., Ph.D. "Understanding the genetic basis of rare conditions can thus provide insights into normal cellular and biological processes, which in turn may lead to improved diagnostic and therapeutic strategies.' "

Read the full article here:  http://www.nih.gov/news/health/oct2009/nhgri-21.htm

Dr Sidransky is also interested in investigating the possible association between NPC and three specific neurodegenerative disorders - Parkinson disease, ALS (Lou Gehrig disease), and early-onset Alzheimer disease (diagnosed before the age of 65). The aim would be to see if a relative of an NPC patient who has any of these other neurodegenerative diseases also carries an NPC mutation.   See also “Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Disease, Type C” .

[Oct 30, 2009 mem]


FYI:  "Compassionate Use"

Given the recent discussions about access to cyclodextrin, we thought you might like to read more about compassionate access to drugs. The term "compassionate use" refers to the treatment of a seriously ill patient using a new, unapproved drug when no other treatments are available.

For more information, click this link:  http://www.nnpdf.ca/CompassionateUse.html

[Oct 2009]


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]


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]


Mayo Clinic Podcast with Dr. Marc Patterson Speaking on Niemann-Pick Disease Type C (NPC)

http://www.seattlechildrens.org/health-care-professionals/education/grand-rounds-online/cat-and-mouse-game/

[July 2009]


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;  nyanjanin@mail.nih.gov.

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]


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]


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 more details, visit:  http://www.nnpdf.ca/NIHTherapeuticsforRareandNeglectedDiseases.html

[May 26, 2009]


NNPDF/Peter G. Pentchev

Research Fellowship
Request for Applications

In 2008 the NNPDF Board undertook an extensive review of its research funding strategy and produced a new Strategic Plan for Research.

As a result, we are pleased to announce that the NNPDF will fund Post Doctoral Research Fellowships in all areas of promise with regard to Niemann-Pick Disease.

The NNPDF Board is determined to ensure that research funds are well spent and to provide funding that is most likely to accelerate finding an effective therapy or cure for all types of Niemann-Pick Disease.

Please click here to learn more about NNPDF/Peter G. Pentchev Research Fellowships, or hover your mouse pointer/cursor over the Niemann-Pick Research tab in the bar above (in light blue box) to view a dropdown list of more Research pages.

[Feb 20, 2009 mem]


Research Update from the February 2009 NNPDF Board Meeting


A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

Read the Publication published July 14th, 2008


Research Update Spring 2008


Chemical chaperone could open door to treatment of neurological disorder. (Posted February 6th, 2008.)

Read the press release from Washington University of St. Louis


Year-1 results show that miglustat improves or stabilizes several clinically relevant markers of Niemann-Pick Type C.

Read the press release from Actelion


Genzyme announces novel gene therapy approach for NPD Types A and B.

Read the Genzyme Announcement

Abstract


The National Niemann-Pick C1 Disease Database: Report of clinical features and health problems.

Graver WS, Francis GA, et al.  2007.   Am J Med Genet  A. 143A(11):1204-1211.


Miglustat (Zavesca) animal toxicology study data released

Learn more


Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice.

Sidman RL, Li J, Stewart GR, Clarke J, Yang W, Snyder EY, Shihabuddin LS.  Brain Res. 2007 Apr 6;1140:195-204. Epub 2007 Jan 9. PMID: 17289003 [PubMed - in process]

Stem cell treatment of mouse model of NPD type A shows improvement in some areas.


Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation.

Mihaylova V, Hantke J, Sinigerska I, Cherninkova S, Raicheva M, Bouwer S, Tincheva R, Khuyomdziev D, Bertranpetit J, Chandler D, Angelicheva D, Kremensky I, Seeman P, Tournev I, Kalaydjieva L. Brain. 2007 Mar 14; [Epub ahead of print]

Findings indicate that mutation analysis is of limited value in predicting brain damage in intermediate ASM deficient NPD (Type A/B variant), and the option of enzyme replacement therapy should be considered.


Kinematic analysis of motor dysfunction in Niemann-Pick type C.

Floyd AG, Yu QP, Piboolnurak P, Wraith E, Patterson MC, Pullman SL. Clin Neurophysiol. 2007 Feb 26; [Epub ahead of print]

The first descriptive analysis of upper limb motor physiology in Niemann-Pick Type C disease. These quantitative methods may help to evaluate efficacy, and side effects, of new treatments as they are developed.


The natural history of Niemann-Pick disease type C in the UK.

Imrie J, Dasgupta S, Besley GT, Harris C, Heptinstall L, Knight S, Vanier MT, Fensom AH, Ward C, Jacklin E, Whitehouse C, Wraith JE. J Inherit Metab Dis. 2007 Feb;30(1):51-9. Epub 2006 Dec 11. PMID: 17160617 [PubMed - indexed for MEDLINE]

The clinical presentation and follow-up of 94 patients with NPC is described, 58 of whom were still alive at the time this report was prepared. The age at diagnosis ranged from the prenatal period (with hydrops fetalis) up to 51 years.


Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutations.

larner B, Klunemann HH, Lurding R, Aslanidis C, Rupprecht R. J Inherit Metab Dis. 2007 Feb;30(1):60-7. Epub 2006 Dec 11.
PMID: 17160616 [PubMed - indexed for MEDLINE]

Evaluation of a test battery that could be used to assess cognitive deficits in different stages of NPD Type C. Observations found that visuospatial working memory was less affected by the neurodegenerative process than verbal working memory.


Lysosomal unesterified cholesterol content correlates with liver cell death in murine Niemann-Pick type C disease.

Beltroy EP, Liu B, Dietschy JM, Turley SD. J Lipid Res. 2007 Jan 14; [Epub ahead of print]
PMID: 17220530 [PubMed - as supplied by publisher]

Studies used npc1-mutant mice to investigate the association between liver dysfunction and unesterified cholesterol accumulation. Results suggest it is the late endosomal/lysosomal content of unesterified cholesterol that correlates with cell damage in NPC disease.


Characterization of liver disease and lipid metabolism in the Niemann-Pick C1 mouse.

Garver WS, Jelinek D, Oyarzo JN, Flynn J, Zuckerman M, Krishnan K, Chung BH, Heidenreich RA.  J Cell Biochem. 2007 Jan 10; [Epub ahead of print] PMID: 17216601 [PubMed - as supplied by publisher]

Results from this study support the hypothesis that an accumulation of lipoprotein-derived cholesterol within late endosomes/lysosomes, in addition to altered intracellular cholesterol homeostasis, has a key role in the biochemical and cellular pathophysiology associated with NPC1 liver disease.


Lipid homeostasis and lipoprotein secretion in Niemann-Pick C1-deficient hepatocytes

Kulinski A, Vance JE.  J Biol Chem. 2007 Jan 19;282(3):1627-37. Epub 2006 Nov 15. PMID: 17107950 [PubMed - indexed for MEDLINE]

Investigation of liver disease in NPC1-deficient mice. Observations indicate that the enhanced secretion of lipoproteins from NPC1-deficient hepatocytes is due, at least in part, to increased lipid synthesis.


Rab8-dependent recycling promotes endosomal cholesterol removal in normal and sphingolipidosis cells.

Linder MD, Uronen RL, Holtta-Vuori M, van der Sluijs P, Peranen J, Ikonen E. PMID: 17050734 [PubMed - indexed for MEDLINE]
Mol Biol Cell. 2007 Jan;18(1):47-56. Epub 2006 Oct 18.

Results show that the overexpression of the recycling/exocytic Rab GTPase Rab8 rescued the late endosomal cholesterol deposition and sphingolipid mistrafficking in NPC fibroblasts. Rab8 is established as a key component of the regulatory machinery that leads to ABCA1-dependent removal of cholesterol from endocytic circuits.


Clues to neuro-degeneration in niemann-pick type C disease from global gene expression profiling.

Reddy JV, Ganley IG, Pfeffer SR. PLoS ONE. 2006 Dec 20;1:e19. PMID: 17183645 [PubMed - in process

NPC1 mutant cells display an inappropriate homeostatic response to accumulated intracellular cholesterol. In addition, a number of striking parallels were observed between NPC disease and Alzheimer's disease.


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