Study to Understand the Progression and Variability of Gangliosidosis Diseases Including Tay-Sachs, Sandhoff, and GM1 Gangliosidosis

What this Trial Is About

Researchers are studying the natural history and progression of gangliosidosis diseases, including Tay-Sachs disease, Sandhoff disease, and GM1 gangliosidosis. The study aims to develop quantitative methods to understand how these diseases evolve and vary among patients. This information will be important for evaluating future treatments like gene therapy, guiding medical decisions, measuring treatment outcomes, and informing families about potential disease outcomes. The study includes two main parts. The first part follows infants and juveniles with these diseases to observe how their condition changes over time. The second part focuses on adults with late-onset Tay-Sachs disease, using brain imaging and cognitive tests to study nervous system changes. Participants will be observed over multiple years to collect detailed data on their disease progression. Participants will undergo neuropsychological tests, brain MRIs, enzyme activity measurements, genetic testing, and clinical assessments at enrollment and then at 12, 24, 36, 48, and 60 months. The study collects detailed information on brain structure, cognitive status, and biochemical markers to track disease changes. This observational study lasts several years, with ongoing monitoring to better understand these rare conditions and support future treatment development.

A Natural History Study of the Gangliosidoses