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, 14 tagged with GM2 gangliosidosis itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of GM2 gangliosidosis
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Sandhoff disease 13 trials
3 sub-types
- Sandhoff disease, adult form 1 trial
- Sandhoff disease, infantile form 0 trials
- Sandhoff disease, juvenile form 0 trials
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Tay-Sachs disease 13 trials
4 sub-types
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Tay-Sachs disease AB variant 0 trials
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Can a repurposed drug slow rare childhood brain diseases?
Disease control Not yet recruitingThis phase 2 trial is testing an oral drug called PLX-200 (gemfibrozil) in children aged 2 to 15 with certain lysosomal storage disorders (LSDs), including CLN2, CLN3, Sandhoff disease, and Krabbe disease. The study aims to see if the drug is safe, tolerable, and may slow the pro…
Phase 2 • Sponsor: Polaryx Therapeutics, Inc. • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC
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New gene therapy hopes to fix fatal brain diseases
Disease control Not yet recruitingThis study tests a new gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases. Researchers will take blood cells from 6 patients, fix the genetic defect in the lab, and then see if these cells can help brain cells work better. The goal is to show the …
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Disease control
Last updated Jun 27, 2026 09:11 UTC