RecruitingNCT00668187
Neurological
GM2 Gangliosidosis, Adult-Onset
Also known as Adult-onset Tay-Sachs disease, late-onset GM2 gangliosidosis, chronic GM2 gangliosidosis, HEXA or HEXB subacute/adult form
Adult-onset (chronic/subacute) GM2 gangliosidosis is a later-manifesting form of hexosaminidase deficiency (HEXA or HEXB) where residual enzyme activity allows survival to adolescence or adulthood before the accumulation of GM2 ganglioside
ORPHA:309 ↗Gene HEXAGene HEXBPrevalence 1-9 per 100,000 (Orphanet)Onset Adolescent, AdultAutosomal recessive genetic
1
studies recruiting now
as of 7 Sept 2026
2
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
29 Apr 2008
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About GM2 Gangliosidosis, Adult-Onset
Adult-onset (chronic/subacute) GM2 gangliosidosis is a later-manifesting form of hexosaminidase deficiency (HEXA or HEXB) where residual enzyme activity allows survival to adolescence or adulthood before the accumulation of GM2 ganglioside causes neurological disease. Unlike the fatal infantile forms, adult-onset GM2 presents with spinocerebellar ataxia, motor neuron disease features, psychiatric symptoms (psychosis), and dystonia with a slowly progressive course. Psychiatric manifestations are prominent and frequently lead to delayed or missed diagnosis.
Common clinical features
Spinocerebellar ataxiaProximal muscle weaknessPsychiatric symptoms including psychosisDystoniaDysarthriaFasciculationsCognitive decline
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for GM2 Gangliosidosis, Adult-Onset. Not eligibility rules; those are set by each study.
- Hexosaminidase A and B enzyme activity in serum and leukocytes is required — residual activity above zero distinguishes adult from infantile forms
- HEXA or HEXB variant classification (residual activity missense vs. null) and predicted enzyme activity should be documented
- Psychiatric symptom history is critical — many adult GM2 patients have psychiatric diagnoses before neurological diagnosis; provide full psychiatric treatment history
- Substrate reduction therapy (miglustat) trials may be available — no prior SRT is typically required, and dietary history should be documented
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).