GM2 gangliosidosis

MONDO:0017720

A 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 trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Inherited neurodegenerative disorder (808) ↑ Gangliosidosis (24)

Sub-types of GM2 gangliosidosis

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
Tay-Sachs disease 13 trials
4 sub-types
- Tay-Sachs disease, B variant, adult form 3 trials
- Tay-Sachs disease, b variant, juvenile form 1 trial
- Tay-Sachs disease, B1 variant 0 trials
- Tay-Sachs disease, b variant, infantile form 0 trials
Tay-Sachs disease AB variant 0 trials

Including sub-types (19) Tagged with GM2 gangliosidosis (14)

Trials to join now! 5 Not yet recruiting 1 Not yet finished but already full! 2 Completed 4 Terminated 2

New gene therapy hopes to fix fatal brain diseases

Disease control Not yet recruiting

This 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

GM2 gangliosidosis

Where it sits in the disease tree

New gene therapy hopes to fix fatal brain diseases