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 and GM-1
GM-1, 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.
GM-1, Tay Sachs, Sandhoff
Clinical trial #NCT02298647
University of Rostock
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.