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Clinical Trials & Research Studies

Several Clinical trials are underway to study treatments for NPB and NPC and natural history of NPC:

Past Clinical Trials:

Clinical Research and Services Funded by the National Niemann-Pick Disease Foundation


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


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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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

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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]

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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]

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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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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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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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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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Vtesse

Vtesse Webinar Summary & SoundCloud Podcast with CEO Ben Machielese

Dear NNPDF Families and Friends,

The NNPDF Central Office is pleased to provide our Niemann-Pick type C family membership community with a summary from the April 16th Vtesse sponsored webinar for those of you who could not be in attendance. Please find the PDF document via this link: http://www.nnpdf.ca/Vtesse.html#Podcast

The Vtesse webinar addressed the progress and updates tied to plans for the VTS-270 (cyclodextrin) Phase II & III clinical trials for Niemann-Pick Disease, Type C (NPC). To see an agenda of the topics discussed during the call ~ please follow this link: April 16th Vtesse sponsored webinar

In addition, we are including a podcast with Ben Machielse, CEO of Vtesse, Inc as he discusses:

  • What is Niemann-Pick Disease type C.
  • The role that NPC parents & patients have played in getting the research moving forward.
  • How NIH & NCATS paved the way for the Cyclodextrin clinical trial.
  • Vtesse, Inc, Cydan and how they became involved with Cyclodextrin.

Visit the Vtesse page for the PDF Webinar summary and Podcast.

[May 5th, 2015 ~ blg]

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FDA & NPB Patient Groundbreaking Meeting
held on
Wednesday, April 29th, 2015


NNPDF & Genzyme FDA Panel Representatives
in front of the Food and Drug Administration Building at
the White Oak Campus in Silver Spring, Maryland.

Front row:  Lillian Saeger (NNPDF), Trina Paulk (NNPDF), Sharon Tan (Genzyme), Sandra Cowie (NNPDF),
Ana Puga (Genzyme) Back row:  Rumana Haque-Ahmed (Genzyme), Joshua Karie (NNPDF), Jamie Ring (Genzyme),
Nadine Hill (NNPDF), Elissa Miller-Visoky (NNPDF), Sherwin Sattarzadeh (Genzyme)

Dear NNPDF Families and Friends,

Recently, the leadership of the NNPDF was approached by representatives from Genzyme (A Sanofi Company) regarding a ground-breaking opportunity for our Niemann-Pick Type B patient community.  Representatives from the United States Food and Drug Administration (FDA) involved with the regulatory aspects of the upcoming Genzyme pediatric and adult Enzyme Replacement Therapy Clinical Trials had asked to meet with members of the NPD Type B patient community.

The meeting objective 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.

The NNPDF was thrilled to be able to assist in coordinating this meeting which took place on Wednesday, April 29th at the FDA offices in Silver Spring, Maryland.  The NPB patient representatives from our Niemann-Pick community had the opportunity to share their stories with the FDA.  As Executive Director of the NNPDF, Nadine Hill was honored to be asked to moderate the session between patients and parents of patients living with NP disease, who in turn, engaged reviewers at the Division of Gastroenterology and Inborn Errors Products and senior FDA staff in an open discussion of diagnostic history, symptoms, and challenges associated with their disease.

Approximately fifteen FDA representatives listened attentively and asked clarifying questions probing the variability and heterogeneity of NP disease signs and symptoms.  The meeting had a very positive tone with FDA staffers creating a comfortable and informal environment allowing for a back and forth discussion with the NP representatives.

When asked about their impressions of the meeting, the FDA regulatory project manager and lead medical reviewer noted that these discussions provide tremendous value to the FDA.

Deep gratitude and thanks go out to the NPD Type B patient panel participants without whom this meeting would not have been possible. A special thank you to Alan Gilstrap and Jamie Ring from Genzyme's Patient Advocacy group for their support of this successful meeting.

The NNPDF will provide further updates and feedback from this meeting and the impending US ASMD patient clinical trials as they become available.

Genzyme Attendees:

  • Jamie Ring – Vice President, Patient Advocacy-Rare Diseases and Humanitarian Programs
  • Rumana Haque-Ahmed – Associate Vice President, Regulatory Affairs Rare Diseases
  • Sharon Tan – Global Project Head, Niemann-Pick
  • Ana Puga – Medical Director, Clinical Development Rare Diseases
  • Sherwin Sattarzadeh – Director, Regulatory Affairs Rare Diseases

NNPDF Family Membership Representatives:

  • Sandy Cowie ~ NPB Adult Patient; Toronto, Canada
  • Trina Paulk ~ NPB Adult Patient; Douglasville, Georgia
  • Joshua Karie ~ NPB Adult Patient; Gilbert, Arizona
  • Elissa Miller ~ Parent of a NPB pediatric patient; New York, New York
  • Lillian Saeger ~ Parent of a NPB pediatric patient; Severna Park, Maryland
  • Nadine Hill ~ NNPDF Executive Director; Fort Atkinson, Wisconsin

[May 1st, 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]

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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]

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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]


Div

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]

Div


WORLDSymposium 2015

Dear NNPDF Families and Friends,

Members of the NNPDF, CCNNPDF, INPDA and the International NNPDF Scientific Advisory Board are currently in attendance at the WORLD (We’re Organizing Research for Lysosomal Diseases) in Orlando, Florida ~ Tuesday, Feb 10th ~ Thursday, Feb 12th, 2015.  The attendees are filling a variety of roles tied to our patient advocacy membership representation, presentations of research and keynote speakers for symposiums addressing the next generation of lysosomal disorders:  Treatment, Biomarkers and Talent needed to succeed in the Future.

The goal of the WORLD (We're Organizing Research for Lysosomal Diseases) symposium is to provide a forum to discuss the challenges to research and development of treatments for patients with rare diseases, and to identify opportunities to support the advancement of therapeutic options. Clinicians and researchers who work with lysosomal diseases will have the opportunity to learn about the progression of research and therapy approval processes for a variety of different diagnoses and therapies via face-to-face lectures and in-depth discussion with a panel of experts. This symposium is designed to help patient advocates, scientists, clinicians and other health care professionals identify what resources and actions will be needed to move lysosomal disease research forward.

To view those in attendance, as well as, the latest updates and abstracts regarding NPC & ASMD, visit the NNPDF WORLD Symposium web page.



[Feb 11th, 2014 ~ blg]

Div

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]


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]


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]


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]


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]



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]


Genzyme logo

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

Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is the enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM); it is being evaluated for the treatment of the non-neurological manifestations of ASMD.

To read the full update, please visit the Enzyme Replacement Therapy - Type B page.

We have also learned that Genzyme and Mount Sainai are recruiting new patients for phase1b of the Enzyme replacement therapy.  For more information: Click Here

[May 7th, 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]


nurse taking blood pressure of patient

NIH Clinical Research Trials and You
New Web Site Launched

The NIH 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]


"Compassionate Use"
Access to Investigational 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. Drugs that are being scientifically tested but have not yet been approved by the United States Food and Drug Administration (FDA) are called investigational drugs. Being able to use one of these drugs when you are not in a clinical trial specifically designed to study that drug has many names, but is most commonly referred to as compassionate use.

Given the recent discussions about access to cyclodextrin, we thought you might like to read more about compassionate access to drugs.  Cate Walsh Vockley, Certified Genetic Counselor, prepared this article about compassionate use, including links to additional resources.  

[Oct 16, 2009 mem]


New Research Opportunity Comes from Karen Quandt's Family History Study
“Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Disease, Type C”

In 2008 several families affected by Niemann-Pick Disease Type C took part in the above research survey conducted by Karen Quandt, RN, MSN. It is not necessary to have participated in Karen's original study to participate in this new study, but you must meet the study criteria described below.

Karen discussed the findings of the survey with Dr. Ellen Sidransky and Jolie Davis, nurse practitioner, both of whom work at the National Institutes of Health.

Dr Sidransky is Senior Investigator in the National Human Genome Research Institute's Medical Genetics Branch. As part of her research protocol “Studies of Heterogeneity in Patients with Lysosomal Storage Disorders” she is exploring a link between Gaucher disease, a rare lysosomal storage disorder, and a far more common disorder, Parkinson's disease. Dr. Sidransky and her colleagues at other institutions discovered that people with Gaucher disease had more relatives with Parkinson's disease than the general public.

Dr Sidransky is very interested in the results of Karen’s Niemann-Pick Type C survey and she would like to investigate 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 the relative with such a neurodegenerative disease also carries an NPC mutation.

Dr. Sidransky states, "The individuals of interest would be NPC families who have undergone genetic testing and know the specific NPC mutation AND who also have a family member with Parkinson disease, ALS, or early-onset Alzheimer disease. We would test the individual who has one of these three disorders for the NPC mutation. They would contact me, I would explain the study, draw a family tree, consent them (if they wished to proceed), and arrange the NPC testing (this would involve a cheek brush test to collect DNA for genetic studies). In those individuals with Alzheimer Disease, I would need to speak with their durable power of attorney (DPA)”.

If you know your specific NPC mutations and have a relative who has ALS, Parkinson disease, or early-onset Alzheimer disease who might be interested in taking part in this study, or if you have additional questions, please contact Dr Sidransky directly at sidranse@mail.nih.gov or by phone at 301-496-0373.

For more about Dr. Sidransky's work, visit the Latest Research page.

Updated 3/9/2009,7/14/2009 CWV

[Oct 30, 2009 mem]

“The Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF) 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 Canadian Chapter 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 CCNNPDF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided on the Internet.”