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
Clinical Trial Eligibility Tips
What to know before applying to GM1 Gangliosidosis trials.
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
Patient Resources
Find recruiting GM1 Gangliosidosis trials
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