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
20 clinical trials for this condition and its sub-types.
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Broader categories
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Promising new pill for rare childhood brain diseases enters final testing
Disease control OngoingThis study tests an oral drug called nizubaglustat in children and teens with rare genetic disorders (GM1, GM2 gangliosidosis) that damage the brain and nerves. The goal is to see if the drug can slow disease progression and improve movement and coordination. About 75 participant…
Phase: PHASE3 • Sponsor: Azafaros B.V. • Aim: Disease control
Last updated Jul 26, 2026 00:00 UTC
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Gene therapy for rare brain diseases: 5-Year safety check begins
Disease control OngoingThis study follows 7 people who previously received a gene therapy called AXO-AAV-GM2 for Tay-Sachs or Sandhoff disease — rare, fatal genetic disorders that destroy nerve cells. Researchers will track them for up to 5 years to see if the treatment remains safe and whether it help…
Sponsor: Terence Flotte • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC