A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis
Public ClinicalTrials.gov record NCT03952637. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Background: GM1 gangliosidosis is a disorder that destroys nerve cells. It is fatal. There is no treatment. People with GM1 are deficient in a certain enzyme. A gene therapy may help the body make this enzyme. This could improve GM1 symptoms. Objective: To test if a gene therapy helps Type I and Type II GM1 gangliosidosis symptoms. Eligibility: Type I subjects will be male and female \>= 6 months \<= 12 months of age at the time of full ICF signing. Type II subjects will be male and female \> 12 months old and \< 12 years old at the time of full ICF signing. Design: Participants will be screened with their medical history and a phone survey. Participants will stay at NIH for 8-10 weeks. Participants will have baseline tests: Blood, urine, and heart tests Hearing tests Ultrasound of abdomen EEG: Sticky patches on the participant s head will measure brain function. Lumbar puncture: A needle will be stuck into the participant s spine to remove fluid. MRI scans, bone x-rays, and bone scans: Participants will lie in a machine that takes pictures of the body IQ tests Neurology exams Central line placement Skin biopsy: A small piece of the participant s skin will be removed. Speech tests Participants will have an x-ray while swallowing food. Participants will take drugs by mouth and IV. This will get their immune system ready for therapy. Participants will get the gene therapy by IV. They may stay at NIH for a week to watch for side effects. Participants will have visits 3 and 6 months after treatment. Then visits will be every 6 months for 2 years. Then they will have a visit at 3 years. Visits will take 4-5 days. Participants will return to NIH once a year for 2 years for tests in an extension study....
Study identification
- NCT ID
- NCT03952637
- Recruitment status
- Recruiting
- Study type
- Interventional
- Phase
- Phase 1, Phase 2
- Enrollment
- 54 participants
Conditions and interventions
Conditions
Interventions
- AAV9-GLB1 Biological
- Abdominal ultrasound Procedure
- Rituximab Drug
- Sirolimus Drug
- Methylprednisolone Drug
- Prednisone Drug
- Audiology assessment with ABR Diagnostic Test
- Bone density scan (DEXA) Diagnostic Test
- Electrocardiogram (EKG) Diagnostic Test
- Echocardiogram Diagnostic Test
- Electroencephalogram (EEG) awake and extended overnight Other
- Laboratory tests Diagnostic Test
- Lumbar puncture Procedure
- Brain MRI/MRS/fMRI Procedure
- Neurocognitive testing Behavioral
- Neurology exam Other
- PICC or other Central line placement Behavioral
- Skeletal survey Procedure
- Skin biopsy Procedure
- Speech and modified barium swallow study Procedure
- Ophthalmology exam Procedure
Biological · Procedure · Drug + 3 more
Eligibility (public fields only)
- Age range
- 6 Months to 12 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Aug 18, 2019
- Primary completion
- Dec 31, 2027
- Completion
- Dec 31, 2027
- Last update posted
- Dec 10, 2025
2019 – 2028
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT03952637, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Dec 10, 2025 · Synced Sep 1, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT03952637 live on ClinicalTrials.gov.