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

Launched by TAYSHA GENE THERAPIES, INC. · Nov 2, 2022

Keywords

ClinConnect Summary

The REVEAL Adult Study is a clinical trial looking at a new treatment called TSHA-102 for adult females with Rett syndrome, a rare genetic disorder that affects brain development. This study aims to find out if TSHA-102 is safe and how well it works in these patients. It will involve two different doses of the treatment and is expected to last up to 63 months.

To participate, women between the ages of 18 and 40 with a confirmed diagnosis of classical Rett syndrome caused by a specific genetic mutation (called MECP2) may be eligible. Participants will need to be open to receiving blood if necessary for their treatment. However, those with other significant neurological disorders, certain medical conditions, or recent severe seizures may not qualify. Throughout the trial, participants will be monitored closely to assess their safety and any effects of the treatment. If you or a loved one are considering joining this study, it's a chance to help researchers learn more about this condition and explore potential new therapies.

Gender

FEMALE

Eligibility criteria

• 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.