There are many definitions of clinical trials but generally they are studies done in people to treat or better understand disease. The decision to participate in clinical trials is a personal and private decision. NTSAD supports families in all their care choices. Our role is to provide families with the tools and resources to make informed decisions that they can live with and that are right for their family.
Click here to read more about Evaluating Experimental Therapies.
There are several ongoing Natural History Studies for children affected by Tay-Sachs, Sandhoff and GM-1. Please contact our director of family services, Kim Kubilus at
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or 800.906.8723. Natural history studies are non-therapeutic.
Currently only two centers in the US will consider Tay-Sachs, Sandhoff and GM-1 patients for BMT: Duke University Medical Center and University of Minnesota. The Duke program is not an approved clinical trial. Contact June Allison-Thacker at
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to learn more.
Synageva BioPharma Corp. has initiated a clinical study to evaluate the safety, tolerability, and pharmacokinetics of SBC-102 as an
enzyme replacement therapy for cholesteryl ester storage disease (CESD). Visit clinicaltrials.gov to learn more.
A small investigator-sponsored clinical trial of the molecular chaperone Pyrimethamine was done in adults with Late Onset Tay-Sachs. A protocol has been developed for the next phase of the trial to address proper dosage. Efforts have stalled due to regulatory requirements and funding challenges.
Clinical trials in babies, children and adults with Tay-Sachs and Sandhoff of the
substrate inhibitor Zavesca® (miglustat) did not show therapeutic benefit. Zavesca is FDA approved for Gaucher, which provides families affected by other lysosomal diseases the option of using the drug for off-label use.
Zavesca may have a small therapeutic effect on children affected by Juvenile GM-1. Contact our director of family services, Kim Kubilus at
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or 800.906.8723 to learn more.
FAQ About Clinical Trials at clinicaltrials.gov
Clinical Trials at clinicaltrials.gov
Food and Drug Administration at fda.gov
