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GM1 gangliosidosis type 1

MONDO:0009260

GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations.

Also known as: Norman-Landing disease, infantile GM1 gangliosidosis, Beta galactosidase deficiency type 1, Beta-galactosidase-1 deficiency, GLB deficiency type 1, GM1-gangliosidosis, type 1, GM1-gangliosidosis, type I, GM1-gangliosidosis, type I, with Cardiac involvement

3 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Inherited lipid metabolism disorder (189) Hereditary disease (176) Eye disorder (102) Bone disorder (51) Inborn errors of metabolism (45) Lysosomal storage disease (35) Syndromic disease (25)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 1
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  • One-Time gene therapy aims to halt rare, fatal brain disease in children

    Disease control Ongoing

    This study tests a single dose of PBGM01, a gene therapy delivered directly into the fluid around the brain and spinal cord, in children with GM1 gangliosidosis. The therapy uses a harmless virus to carry a working copy of the GLB1 gene, which is missing or faulty in these patien…

    Phase: PHASE1, PHASE2 • Sponsor: Gemma Biotherapeutics • Aim: Disease control

    Last updated Jul 02, 2026 00:00 UTC

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