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 - US and Abroad.
Current Clinical Trials
Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) at University of Minnesota
University of Minnesota – Clinical trial #NCT02030015
The investigators are investigating a combination therapy using miglustat and the ketogenic diet for infantile and juvenile patients with gangliosidoses. They believe it will create a synergy that 1) improves overall survival for patients with infantile and juvenile gangliosidoses, and 2) improves neurodevelopmental clinical outcomes of therapy, compared to data reported in previous natural history studies, as well as previous studies using miglustat alone.
Metachromatic Leukodystrophy (MLD) Natural History Study
Researchers conducting this MLD Natural History Study are working to increase the understanding of Metachromatic Leukodystrophy (MLD) as efforts are made to find ways to improve the treatment of this disorder. The study is examining the natural course of the disease in children under 12. This is a two year study with approximately ten study-related visits. Study participants and their families will be reimbursed for all reasonable travel and lodging expenses. The study provides families with the opportunity to connect with doctors who specialize in MLD and who are dedicated to supporting patients and families affected by MLD. For more information, please visit UnitedForMLD.com
Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent. (Montreal, CANADA)
The investigators have developed a new website to educate persons of Ashkenazi Jewish ancestry about their increased risk for having children with certain genetic conditions, and the genetic testing the investigators offer. This study aims to pilot the website to find out whether it is effective and to learn what the investigators can improve.
Participants in the study will be assigned to one of two conditions:
- Standard in-person genetic counselling session to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. Participants will fill out two short questionnaires, one before and one after the genetic counselling session. They will then be given a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.
- Use of a web-based pre-test genetic counselling tool to learn about inheritance of Ashkenazi Jewish genetic conditions and genetic testing. They will fill out two short questionnaires, one before, and one after using the web-based tool. They will then be electronically sent a requisition form to undergo blood draw for genetic testing at the Montreal General Hospital test centre.
In both conditions, genetic test results will be communicated by telephone once they are available. Participants' genetic test results will not be used in any way for the study. Read more here.
Natural History for Tay-Sachs, Sandhoff and GM-1
Bone Marrow Transplant
Cholesteryl Ester Storage Disease
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.
Past Clinical Trials
Pyrimethamine for Late Onset Tay-Sachs
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.
Zavesca for all forms of Tay-Sachs, Sandhoff and GM-1
Clinical trials in babies, children and adults with Tay-Sachs and Sandhoff of the substrate inhibitor ZavescaÂ® (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.