Safety and Efficacy of TSHA-102 in Adolescent and Adult Females with Rett Syndrome (REVEAL Adult Study)

Open to females ages 12 years and up

• 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.

• 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.