Overview
The REVEAL Adult Study is a multi-center, Phase 1/2 open-label, dose-escalation study of TSHA-102, an investigational gene therapy, in adult females with Rett syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated.
The study duration is estimated to be up to 63 months.
Eligibility
Inclusion Criteria:
- Participant has a clinical diagnosis of classical/typical Rett syndrome with a documented pathogenic mutation of the methyl-CpG-binding protein 2 (MECP2) gene that results in loss of function.
- Participants must be willing 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 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 a MECP2 mutation that does not cause Rett syndrome.
- Participant requires invasive ventilatory support.
- Participant has contraindications for IT administration of TSHA-102 or lumbar puncture procedure, or other medical conditions, or contraindications to any medications required for IT administration.
- Participant has uncontrolled seizures or a history of status epilepticus within the 3 months prior to enrollment.