This study examines the safety and efficacy of a gene therapy called TSHA-102 in girls with classical Rett syndrome who carry a loss-of-function mutation in the MECP2 gene. Children aged 5 to 8 years with a confirmed diagnosis are evaluated. The study is being conducted in Phase 1/Phase 2; it is not currently recruiting but is ongoing (active, not recruiting).
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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.