Type II GM1 Gangliosidosis - Healing Genes

Type II GM1 Gangliosidosis

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Intravenous Gene Transfer With an AAV9 Vector Expressing Human Galactosidase in Type II GM1 Gangliosidosis

A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type II GM1 Gangliosidosis

Phase 1 / 2


The National Institutes of Health Clinical Center is recruiting a small number of patients with Type II GM1 Gangliosidosis, in order to test a new gene therapy to help the body make the enzyme beta-galactosidase (betagal) which is insufficient in patients with the disease. The treatment uses a lab-engineered virus that will deliver an accurate gene for the enzyme, in the form of a single infusion. Due to a possible risk of an immune response, the patients will receive an immune-moderating therapy before the treatment and for 6 months after, with long-term follow up for up to 3 years.


  • Be 2 to 12 years of age
  • Have biallelic mutations in GLB1
  • Be willing reside within 50 miles of the study site for at least 2 months following treatment (may include housing on NIH campus)


  1. Prescreening tests to confirm eligibility of the patient to participate.
  2. Administration of the therapy via IV infusion.
  3. Care is limited to symptomatic medical management.
  4. Brain assessment via MRI and lab/physical assessments will follow for 2 months and long-term follow up continues for 3 years.

The study site is at the National Institutes of Health Clinical Center. Map.


Jean M Johnston  |  (301) 443-8628  |  [email protected]


National Human Genome Research Institute (NHGRI)


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