RecruitingPhase 1NCT02254863
Metabolic
Tay-Sachs Disease
Also known as GM2 gangliosidosis type I, hexosaminidase A deficiency, HEXA deficiency
Tay-Sachs disease is a fatal genetic disorder caused by mutations in the HEXA gene, resulting in deficiency of the enzyme beta-hexosaminidase A. Without this enzyme, GM2 ganglioside accumulates progressively in nerve cells of the brain and
ORPHA:845 ↗Gene HEXAPrevalence 1-9 per 100,000 (Orphanet)Onset Infantile, Juvenile, AdultAutosomal recessive genetic
9
studies recruiting now
as of 7 Sept 2026
38
studies registered in total
as of 7 Sept 2026
17
countries with a recruiting site
as of 7 Sept 2026
24 Jul 2025
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT00029965
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
RecruitingNCT05007990
Caregiving Networks Across Disease Context and the Life Course
RecruitingPhase 3NCT07082725
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
RecruitingPhase 3NCT07054515
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 9 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
Keep watching
Get an email when a new Tay-Sachs Disease study opens.
One email a day at most. Unsubscribe with one click.
Used only for these alerts. Privacy.
Support
Patient organisations
Registry: NTSAD Disease Registry · Join ↗. Registries connect patients to researchers and often hear about trials first.
About Tay-Sachs Disease
Tay-Sachs disease is a fatal genetic disorder caused by mutations in the HEXA gene, resulting in deficiency of the enzyme beta-hexosaminidase A. Without this enzyme, GM2 ganglioside accumulates progressively in nerve cells of the brain and spinal cord, destroying them. The infantile form is the most severe, with neurological deterioration beginning around 3-6 months of age; juvenile and adult-onset forms also exist with slower progression.
Common clinical features
Progressive neurological deteriorationCherry-red spot on maculaHypotoniaSeizuresLoss of motor skillsHearing lossBlindness
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
7 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Venglustat
Phase 2/3Busulfan (Busilvex)
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Phase 2Trenonacog Alfa (Ixinity[tm])
Phase 1/2Leucovorin Calcium (Leucovorin calcium)
Phase 1/2Pyrimethamine (Daraprim)
Phase 1Gilavebexagene Anvuparvovec
Before you apply
Things trial teams commonly ask about for Tay-Sachs Disease. Not eligibility rules; those are set by each study.
- Trials often stratify by disease form — specify infantile, juvenile, or adult-onset when searching
- Residual hexosaminidase A enzyme activity level is a common baseline eligibility criterion
- Gene therapy trials may require no prior substrate reduction therapy (SRT) for a washout period
- Carrier status in family members may qualify relatives for natural history studies
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).