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