GM1 gangliosidosis
MONDO:0018149A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.
Also known as: Beta-galactosidase-1 deficiency, GLB1 deficiency, GM>1< gangliosidosis, Landing disease, Landing syndrome, gangliosidosis GM1, Beta galactosidase 1 deficiency, Beta-galactosidosis
12 clinical trials for this condition and its sub-types.
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Broader categories
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Promising new pill for rare childhood brain diseases enters final testing
Disease control OngoingThis study tests an oral drug called nizubaglustat in children and teens with rare genetic disorders (GM1, GM2 gangliosidosis) that damage the brain and nerves. The goal is to see if the drug can slow disease progression and improve movement and coordination. About 75 participant…
Phase: PHASE3 • Sponsor: Azafaros B.V. • Aim: Disease control
Last updated Jul 26, 2026 00:00 UTC
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One-Time gene therapy aims to halt rare, fatal brain disease in children
Disease control OngoingThis 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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New york program offers extra screening for 100,000 newborns
Diagnosis ENROLLING_BY_INVITATIONScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC