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Clinical Trials

Questions about Clinical Trials?  Should you/or your loved one participate?  Here is some information to help answer those questions:

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

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.

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]


WORLD Symposium 2015
ASMD (NPD Type A/B & B) Updates

11th Annual WORLD Symposium 2015

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 11th Annual WORLD Symposium 2015  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).

[Feb 12th, 2015 ~ blg]


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]



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 research survey conducted by Karen Quandt, RN, MSN. 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.   Summary of Karen Quandt’s study findings

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 or by phone at 301-496-0373.

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.

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

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

[June 30, 2010 mem]