RecruitingPhase 1NCT02254863
Metabolic
Sandhoff Disease
Also known as GM2 gangliosidosis type II, hexosaminidase A and B deficiency, HEXB deficiency
Sandhoff disease is a lysosomal storage disorder caused by mutations in the HEXB gene, leading to deficiency of both beta-hexosaminidase A and B enzymes. This results in accumulation of GM2 gangliosides and related glycolipids in neurons, c
ORPHA:796 ↗Gene HEXBPrevalence 1-9 per 100,000 (Orphanet)Onset Infantile, Juvenile, AdultAutosomal recessive genetic
4
studies recruiting now
as of 7 Sept 2026
27
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
6 Nov 2017
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT00029965
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
RecruitingNCT00668187
A Natural History Study of the Gangliosidoses
RecruitingNCT03333200
Longitudinal Study of Neurodegenerative Disorders
Showing the 4 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Sandhoff Disease
Sandhoff disease is a lysosomal storage disorder caused by mutations in the HEXB gene, leading to deficiency of both beta-hexosaminidase A and B enzymes. This results in accumulation of GM2 gangliosides and related glycolipids in neurons, causing progressive neurological destruction. Unlike Tay-Sachs (which affects only HexA), Sandhoff disease also affects non-neural tissues, causing visceral involvement including hepatosplenomegaly.
Common clinical features
Progressive neurological deteriorationCherry-red macular spotHepatosplenomegalyHypotoniaSeizuresExaggerated startle responseBlindness
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
8 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 3Venglustat
Phase 3Miglustat (Miglustat dipharma)
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Phase 2/3Busulfan (Busilvex)
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 Sandhoff Disease. Not eligibility rules; those are set by each study.
- Hexosaminidase A and B enzyme activity levels must both be documented for trial eligibility confirmation
- Sandhoff and Tay-Sachs are biologically similar — some GM2 gangliosidosis trials enroll both; confirm which forms are accepted
- Substrate reduction therapy with miglustat has been studied — prior SRT use may be an exclusion criterion in some trials
- Infantile-onset patients have a narrow enrollment window; contact trial coordinators early after diagnosis
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).