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
65 clinical trials for this condition and its sub-types.
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Broader categories
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Hope fades: trial of Tay-Sachs drug venglustat terminated early
Disease control TerminatedThis Phase 3 trial tested an oral drug called venglustat in 75 adults and children with late-onset Tay-Sachs or Sandhoff disease, rare genetic disorders that cause progressive nerve damage. The drug aimed to lower toxic fat buildup in the brain and slow disease worsening. However…
Phase: PHASE3 • Sponsor: Genzyme, a Sanofi Company • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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Experimental drug zavesca tested for rare fatal brain diseases in infants
Disease control TerminatedThis phase 3 trial tested the drug miglustat (Zavesca) in 30 infants with Sandhoff or Tay-Sachs diseases, rare genetic disorders that destroy nerve cells. The goal was to see if the drug could reduce hospitalizations, seizures, and feeding problems while improving motor function.…
Phase: PHASE3 • Sponsor: Tehran University of Medical Sciences • Aim: Disease control
Last updated Jun 26, 2026 17:51 UTC
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Experimental gene therapy targets Tay-Sachs and sandhoff in kids
Disease control TerminatedThis early-stage trial tested a gene therapy called AXO-AAV-GM2 in children with Tay-Sachs or Sandhoff disease, rare and fatal genetic brain disorders. The therapy delivers healthy genes directly into the brain and spinal fluid to try to restore a missing enzyme. The study was te…
Phase: PHASE1 • Sponsor: Terence Flotte • Aim: Disease control
Last updated Jun 26, 2026 13:03 UTC