GM2 gangliosidosis

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

This study tests the long-term safety and effectiveness of a daily medication called nizubaglustat in people with two rare genetic diseases that affect the brain and body. About 21 participants who were in a previous study or who have been on a similar drug (miglustat) will take …

This study follows people with rare genetic disorders that cause harmful substances to build up in the body, leading to brain damage. Researchers will monitor up to 200 participants over time using exams, surveys, and lab tests. The goal is to better understand how these diseases…

This study follows children and adults with Tay-Sachs, Sandhoff, and GM1 gangliosidosis to understand how these diseases progress. Researchers will measure changes in motor skills, communication, and behavior each year. The goal is to create a clear picture of the diseases so fut…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…