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-ACETYLHEXOSAM...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding GM2 gangliosidosis is understandable given its rarity, affecting fewer than 10 individuals per 100,000. This low prevalence restricts the scope of systematic clinical studies, and the genetic basis has only been recently identified, leading to ongoing efforts in clinical characterization. As research continues, more information about the condition and its clinical features is expected to emerge.
To navigate GM2 gangliosidosis effectively, seek a neurologist with expertise in lysosomal storage disorders. Genetic counseling is crucial, especially given the involvement of specific genes like HEXA and HEXB. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further support. Additionally, inquire about participation in clinical trials, which may provide access to emerging therapies and contribute to research efforts.
Currently, there are several orphan drugs in development for GM2 gangliosidosis, including adeno-associated viral vector serotype 9 (AAV9) carrying both HEXA and HEXB, N-acetyl-DL-leucine, sinbaglustat, and venglustat malate. There are also 12 active clinical trials exploring various aspects of the condition. For more information on these trials, you can visit ClinicalTrials.gov and search for GM2 gangliosidosis.
Actionable guidance for navigating care for GM2 gangliosidosis
To navigate GM2 gangliosidosis effectively, seek a neurologist with expertise in lysosomal storage disorders. Genetic counseling is crucial, especially given the involvement of specific genes like HEXA and HEXB. Although there are currently no identified patient organizations, you can explore resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further support. Additionally, inquire about participation in clinical trials, which may provide access to emerging therapies and contribute to research efforts.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 6 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.