GM2 gangliosidosis
MONDO:0017720A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
Also known as: GM>2< gangliosidosis, gangliosidosis GM2, GM2-gangliosidosis, B, B1, AB variant
19 clinical trials for this condition and its sub-types.
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Broader categories
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New pill shows promise for rare brain disorders in early trial
Disease control CompletedThis study tested an oral drug called AZ-3102 in 13 people with GM2 gangliosidosis (Tay-Sachs or Sandhoff disease) or Niemann-Pick type C disease. The main goal was to check safety and how the drug moves through the body over 12 weeks. It was a randomized, double-blind, placebo-c…
Phase: PHASE2 • Sponsor: Azafaros B.V. • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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Small study tracks rare disease to pave way for future treatments
Knowledge-focused CompletedThis study followed 10 people with late onset Tay-Sachs disease to see how their symptoms and body chemistry changed over six months. Researchers measured balance, coordination, and brain chemicals. The goal was to gather information that will help design better clinical trials f…
Sponsor: Massachusetts General Hospital • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC
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New study maps how rare brain diseases worsen over time in kids
Knowledge-focused CompletedThis study followed 31 children with GM1 or GM2 gangliosidosis (including Tay-Sachs and Sandhoff disease) to carefully measure how their neurological symptoms, like walking and speech, change over time. The goal was to create a clear picture of disease progression to help design …
Sponsor: Azafaros B.V. • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC