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.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

GM1 gangliosidosis GM1 gangliosidosis type 1 GM1 gangliosidosis type 2 lysosomal storage disease Rare Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Benioff Children's Hospital

    Oakland, California, 94158, United States

  • Children's Hospital at St. Peter's University Hospital

    New Brunswick, New Jersey, 08901, United States

  • Gazi University

    Ankara, Turkey (Türkiye)

  • Great Ormond Street Hospital

    London, United Kingdom

  • Hospital de Clínicas de Porto Alegre (HCPA)

    Porto Alegre, Brazil

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • University of Minnesota

    Minneapolis, Minnesota, 55455, United States