Clinical Trials & Research Studies
Several Clinical trials are underway to study treatments for NPB and NPC and natural history of NPC:
- Enzyme Replacement Therapy for NPB
- Zavesca for NPC
- Natural History Study/Evaluation of Biomarkers and Clinical Investigation of Niemann-Pick Disease, NPC
- Biomarker Validation for Niemann-Pick Disease,Type C: Safety and Efficacy of N-Acetyl Cysteine
- Planning Underway for Clinical Trial of Cyclodextrin for NPC at National Institutes of Health (NIH)
Clinical Research and Services Funded by the National Niemann-Pick Disease Foundation
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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]
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Orphazyme Announces Proposed Clinical Trial
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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
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NIH Clinical Research Trials and You |
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 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 sidranse@mail.nih.gov 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]
“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.”