One-Time gene therapy aims to halt rare, fatal brain disease in children
NCT ID NCT04713475
First seen Jun 30, 2026 · Last updated Jul 01, 2026 · Updated 1 time
Summary
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 patients. The trial includes two groups: infants with the early-onset form (Type 1) and older infants with the late-onset form (Type 2a). Researchers will monitor safety and whether the treatment helps children reach developmental milestones.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- PBGM01 (a gene therapy using a harmless virus to deliver a working GLB1 gene)
- What this could lead to
- If successful, this could provide a one-time treatment that slows or stops the progression of GM1 gangliosidosis, a devastating and currently untreatable disease.
- What could go wrong
- This is an early-phase trial with only 26 participants, so results may not apply to all patients. Gene therapies carry risks like immune reactions or the treatment not reaching all affected cells.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Benioff Children's Hospital
Oakland, California, 94158, United States
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Children's Hospital at St. Peter's University Hospital
New Brunswick, New Jersey, 08901, United States
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Gazi University
Ankara, Turkey (Türkiye)
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Great Ormond Street Hospital
London, United Kingdom
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Hospital de Clínicas de Porto Alegre (HCPA)
Porto Alegre, Brazil
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The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
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University of Minnesota
Minneapolis, Minnesota, 55455, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.
- Gene therapy before birth: a new hope for babies with GM1 disease
- Scientists track rare brain diseases to pave way for future cures
- Hope fades: trial of Tay-Sachs drug venglustat terminated early
- New study maps how rare brain diseases worsen over time in kids
- New pill hopes to tame rare childhood brain diseases
- Rare disease study tracks GM1 progression to pave way for future treatments