Sandhoff disease
MONDO:0010006A lysosomal disorder from the GM2 gangliosidosis family, caused by biallelic pathogenic variants in the HEXB gene, characterized by GM2 ganglioside accumulation in the nervous system and progressive central nervous system degeneration.
Also known as: GM2 gangliosidosis 0 variant, GM2 gangliosidosis, 0 variant, Hexosaminidases A and B deficiency, Sandhoff Jatzkewitz disease, Sandhoff disease, Sandhoff disease, adult form, Sandhoff disease, infantile form, Sandhoff disease, juvenile form
19 clinical trials for this condition and its sub-types, 13 tagged with Sandhoff disease itself.
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Sub-types of Sandhoff disease
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Sandhoff disease, adult form 1 trial
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Sandhoff disease, infantile form 0 trials
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Sandhoff disease, juvenile form 0 trials
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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 2 • 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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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