# 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

> **NCT03952637** · PHASE1,PHASE2 · RECRUITING · sponsor: **National Human Genome Research Institute (NHGRI)** · enrollment: 54 (estimated)

## Conditions studied

- Lysosomal Diseases
- Gangliosidosis
- GM1

## Interventions

- **BIOLOGICAL:** AAV9-GLB1
- **PROCEDURE:** Abdominal ultrasound
- **DRUG:** Rituximab
- **DRUG:** Sirolimus
- **DRUG:** Methylprednisolone
- **DRUG:** Prednisone
- **DIAGNOSTIC_TEST:** Audiology assessment with ABR
- **DIAGNOSTIC_TEST:** Bone density scan (DEXA)
- **DIAGNOSTIC_TEST:** Electrocardiogram (EKG)
- **DIAGNOSTIC_TEST:** Echocardiogram
- **OTHER:** Electroencephalogram (EEG) awake and extended overnight
- **DIAGNOSTIC_TEST:** Laboratory tests
- **PROCEDURE:** Lumbar puncture
- **PROCEDURE:** Brain MRI/MRS/fMRI
- **BEHAVIORAL:** Neurocognitive testing
- **OTHER:** Neurology exam
- **BEHAVIORAL:** PICC or other Central line placement
- **PROCEDURE:** Skeletal survey
- **PROCEDURE:** Skin biopsy
- **PROCEDURE:** Speech and modified barium swallow study

## Key facts

- **NCT ID:** NCT03952637
- **Lead sponsor:** National Human Genome Research Institute (NHGRI)
- **Sponsor class:** NIH
- **Phase:** PHASE1,PHASE2
- **Study type:** INTERVENTIONAL
- **Status:** RECRUITING
- **Start date:** 2019-08-19
- **Primary completion:** 2028-01-01
- **Final completion:** 2028-01-01
- **Target enrollment:** 54 (ESTIMATED)
- **Last updated:** 2025-12-11

## Collaborators

- [object Object]

## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT03952637

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT03952637, "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". Retrieved via AI Analytics 2026-06-24 from https://api.ai-analytics.org/clinical/NCT03952637. Licensed CC0.

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