Clinical Trials & Research Studies
Several Clinical trials are underway to study treatments for NPB and NPC and natural history of NPC:
- Type B Enzyme Replacement Therapy
- Zavesca (Type C)
- Natural History Study/Evaluation of Biomarkers and Clinical Investigation of Niemann-Pick Disease, Type C
- Biomarker Validation for Niemann-Pick Disease,Type C: Safety and Efficacy of N-Acetyl Cysteine
Clinical Research and Services Funded by the National Niemann-Pick Disease Foundation
"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
[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.”