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

Phase 1

Recruiting

• Conditions: Rett Syndrome
• Interventions: Genetic: TSHA-102

• Registration Number: NCT06152237
• Lead Sponsor: Taysha Gene Therapies, Inc.

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2023-11-21
• Study First Submitted QC: 2023-11-21
• Study First Posted: 2023-11-30
• Study Start: 2023-12-12
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-06
• Last Update Posted: 2025-05-11
• Primary Completion: 2028-11-02
• Study Completion: 2031-11-02

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 20

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SEQUENTIAL

Arm && Interventions

Group	Intervention	Description
Cohort 1	TSHA-102	Dose Level 1
Cohort 2	TSHA-102	Dose Level 2

Primary Outcome Measures

Name	Time	Method
Primary Safety	Baseline through week 52	The incidence of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)

Secondary Outcome Measures

Name	Time	Method
Exploratory Efficacy	Baseline through week 52	The percent change from the steroid-free baseline period in monthly countable seizure frequency (MCSF). This testing will provide a measure of participants with seizure freedom following administration of TSHA-102.

Trial Locations

Locations (10)

University of California San Diego (UCSD); 🇺🇸 La Jolla, California, United States

Rush University Medical Center & Children's Hospital; 🇺🇸 Chicago, Illinois, United States

Boston Children's at Brookline; 🇺🇸 Boston, Massachusetts, United States

Gillette Children's Specialty Healthcare; 🇺🇸 St. Paul, Minnesota, United States

Washington University, St. Louis; 🇺🇸 Saint Louis, Missouri, United States

Children's Hospital of Philadelphia Research Institute; 🇺🇸 Philadelphia, Pennsylvania, United States

Vanderbilt Kennedy Center; 🇺🇸 Nashville, Tennessee, United States

University of Texas Southwestern Medical Center (UTSW); 🇺🇸 Dallas, Texas, United States

CHU Ste-Justine; 🇨🇦 Montréal, Quebec, Canada

Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust; 🇬🇧 London, United Kingdom