A Multicenter, Open Label, Randomized, Dose-Escalation and Dose-Expansion Study of the Safety, Tolerability, and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females With Rett Syndrome

TSHA-102-CL-102

The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated. The study duration is up to 6 years.

2023-12-12

2028-11-02

2031-11-02

Recruiting

Early phase I

6

Inclusion Criteria: * Participant has a confirmed diagnosis of classical/typical Rett Syndrome with a documented mutation of the MECP2 gene that results in loss of function. * Participant is between ≥5 to ≤8 years of age at the time of consent. * Participant must be up to date with all relevant local vaccination requirements, with last vaccination dose received at least 42 days prior to the start of the immunosuppression regimen. * Participant's parent/caregiver must be willing to allow participant to receive blood or blood products for the treatment of an AE if medically needed. Exclusion Criteria: * Participant has another neurodevelopmental disorder independent of the MECP2 gene loss of function mutation, or any other genetic syndrome with a progressive course. * Participant has a history of brain injury that causes neurological problems. * Participant had grossly abnormal psychomotor development in the first 6 months of life. * Participant has a diagnosis of atypical Rett syndrome. * Participant has an MECP2 mutation that does not cause Rett syndrome. * Participant requires non-invasive and invasive ventilatory support. * Participant has contraindications for IT administration of TSHA-102 or lumbar puncture procedure, other medical conditions, or contraindications to any medications required for IT administration. * Participant has acute or chronic hepatitis B or C infections.

{'studyType': 'INTERVENTIONAL', 'phases': ['PHASE1'], 'designInfo': {'allocation': 'RANDOMIZED', 'interventionModel': 'SEQUENTIAL', 'primaryPurpose': 'TREATMENT', 'maskingInfo': {'masking': 'NONE'}}, 'enrollmentInfo': {'count': 6, 'type': 'ESTIMATED'}}

2024-02-14