RecruitingNCT00029965
Metabolic
GM1 Gangliosidosis
Also known as Beta-galactosidase deficiency, GLB1 deficiency, Landing disease
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, resulting in deficiency of beta-galactosidase and accumulation of GM1 gangliosides in neurons throughout the central nervous system. The disease presen
ORPHA:354 ↗Gene GLB1Prevalence 1-9 per 100,000 (Orphanet)Onset Infantile, Juvenile, AdultAutosomal recessive genetic
9
studies recruiting now
as of 7 Sept 2026
30
studies registered in total
as of 7 Sept 2026
18
countries with a recruiting site
as of 7 Sept 2026
24 Jul 2025
most recent study posted
among recruiting studies
Recruiting trials
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
RecruitingNCT00668187
A Natural History Study of the Gangliosidoses
RecruitingNCT05574673
Characterization of Epithelial Ovarian Cancer Patients in Terms of Homologous Recombination Phenotype
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.
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About GM1 Gangliosidosis
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, resulting in deficiency of beta-galactosidase and accumulation of GM1 gangliosides in neurons throughout the central nervous system. The disease presents in three forms based on age of onset and severity. Type 1 (infantile) is the most severe, with rapid neurological deterioration beginning in the first 6 months of life; Types 2 and 3 have later onset and slower progression.
Common clinical features
Cherry-red macular spotCoarse facial featuresHepatosplenomegalySkeletal dysplasiaHypotoniaSeizuresIntellectual disability
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
5 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2/3Cyclophosphamide (Cyclophosphamide)
Phase 2/3Busulfan (Busilvex)
Phase 1/2Lixmabegagene Relduparvovec
Phase 1/2Bomtabegagene Bavoparvovec
PRECLINICALDeoxygalactonojirimycin
Before you apply
Things trial teams commonly ask about for GM1 Gangliosidosis. Not eligibility rules; those are set by each study.
- Gene therapy trials for GM1 often require confirmation of two pathogenic GLB1 variants and documented enzyme activity
- Brain MRI findings of basal ganglia involvement are a key stratification marker in observational and interventional trials
- Substrate reduction therapy trials may accept both Type 1 and Type 2 patients but typically have separate cohorts
- Natural history registries are actively recruiting — enrollment supports future trial eligibility matching
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).