Please contact NTSAD for more information about these studies. If you know of a study which is not currently listed, please let us know.
Natural History for Tay-Sachs, Sandhoff, GM1, and Farber Diseases
There are several ongoing Natural History Studies for children affected by Tay-Sachs, Sandhoff, and GM1 which need participants, and Natural History Studies for all those diagnosed with Farber. Please contact our Executive Director, Sue Kahn at This email address is being protected from spambots. You need JavaScript enabled to view it.. Natural history studies are non-therapeutic.
GM1 Gangliosidosis
Clinical Trial #NCT04310163
Casimir Trials
Interviews and Video Capture in Patients with GM1 Gangliosidosis
To address the methodological challenges of this small, heterogeneous population, this study will collect patient-specific home-based video data and qualitative interviews with caregivers.
GM1, Tay Sachs, Sandhoff
Clinical trial #NCT02030015
University of Minnesota
Minneapolis, Minnesota, USA
Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) at University of Minnesota
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.
GM1, Tay Sachs, Sandhoff
Clinical trial #NCT02298647
University of Rostock
Rostock, Germany
Biomarker for GM1/GM2-Gangliosidoses -An international, multicenter, epidemiological protocol
The investigators are looking to find a new biomarker in either saliva or blood which can lead to the early identification of Tay-Sachs, Sandhoff and GM-1.
Tay Sachs, Sandhoff, GM1, Gaucher Type 2
Clinical trial #NCT00029965
National Institute of Health Clinical Center
Bethesda, Maryland, USA
Nervous System Degeneration in Glycosphingolipid Storage Disorders
This study will evaluate children with glycosphingolipid (GSL) storage disorders to investigate brain changes that cause nervous system degeneration. No experimental treatments are offered in this study; participants will receive standard medical care for their disease. The information from this study may help researchers develop new therapies for these disorders and monitor the effects of treatment.
Tay Sachs, Sandhoff, Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Neimann Pick Disease, Pelizaeus-Merzbacher Disease
Clinical trial #NCT02254863
Duke University Research Center
Durham, North Carolina, USA
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells (DUOC-01)
This study primarily aims to determine the safety and feasibility of intrathecal administration of DUOC-01 as an adjunctive therapy with unrelated umbilical cord blood transplantation. The secondary aim is to describe the efficacy of this treatment.
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 contact us.
Farber Disease Natural History Study
Clinical Trial # NCT03233841
Enzyvant Therapeutics
This natural history study primarily aims to better understand the presentation, likely course, and impact of Farber disease, a frequently misdiagnosed disease. All patients diagnosed with Farber disease are eligible, including both those who have and have not undergone hematopoietic stem cell transplantation (HSCT). Additionally, if you have had a loved one pass away who was diagnosed with Farber disease, their records are also eligible for this study and could help lead to a deeper understanding of the condition.
A diagnosis of Farber disease is based on experiencing the typical symptoms and having these specific biochemical and genetic criteria (genetic testing will be provided for free to any patients who do not have the required tests):
- Biochemical - White blood or skin cells (or other biological sources like plasma) with an acid ceramidase activity value that is less than 30% of what the normal value is. For deceased patients, finding the molecule ceramide in the cells from their histopathologic section tissue is enough to confirm the diagnosis; and
- Genetic - Changes in the gene for acid ceramidase (named ASAH1) or cDNA that show the acid ceramidase protein might not be functioning as well as it should be.