Investigating a gene therapy for pediatric females with Rett Syndrome
A Multicenter, Open Label, Randomized, Dose-Escalation and Dose-Expansion Study of the Safety, Tolerability, and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females With Rett Syndrome
This study is testing a new gene therapy to see if it can help young girls with Rett Syndrome feel better and improve their symptoms.
Quick facts
| Phase | Phase1; Phase2 |
|---|---|
| Study type | Interventional |
| Enrollment | 20 (estimated) |
| Ages | 5 Years to 8 Years |
| Sex | Female |
| Sponsor | Taysha Gene Therapies, Inc. Industry-sponsored |
| Locations | 10 sites (La Jolla, California and 9 other locations) |
| Trial ID | NCT06152237 on ClinicalTrials.gov |
What this trial studies
The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label trial evaluating the safety and efficacy of TSHA-102, an investigational gene therapy, in pediatric females diagnosed with Rett Syndrome. This study will involve a dose-escalation and dose-expansion approach to assess two different dose levels of the therapy. Participants will be monitored for safety, tolerability, and preliminary efficacy over a duration of up to 6 years.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric females aged 5 to 8 years with a confirmed diagnosis of classical Rett Syndrome and a documented MECP2 gene mutation.
Not a fit: Patients with other neurodevelopmental disorders or atypical Rett Syndrome may not benefit from this study.
Why it matters
Potential benefit: If successful, this therapy could significantly improve the quality of life and developmental outcomes for children with Rett Syndrome.
How similar studies have performed: Other studies involving gene therapy for neurodevelopmental disorders have shown promise, but this specific approach is novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
La Jolla, California and 9 other locations
- University of California San Diego (UCSD) — La Jolla, California, United States (Not_yet_recruiting)
- Rush University Medical Center & Children's Hospital — Chicago, Illinois, United States (Recruiting)
- Boston Children's at Brookline — Boston, Massachusetts, United States (Not_yet_recruiting)
- Gillette Children's Specialty Healthcare — St. Paul, Minnesota, United States (Recruiting)
- Washington University, St. Louis — Saint Louis, Missouri, United States (Recruiting)
- Children's Hospital of Philadelphia Research Institute — Philadelphia, Pennsylvania, United States (Not_yet_recruiting)
- Vanderbilt Kennedy Center — Nashville, Tennessee, United States (Not_yet_recruiting)
- University of Texas Southwestern Medical Center (UTSW) — Dallas, Texas, United States (Not_yet_recruiting)
- CHU Ste-Justine — Montréal, Quebec, Canada (Recruiting)
- Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust — London, United Kingdom (Not_yet_recruiting)
Study contacts
- Study coordinator: Taysha Gene Therapies Medical Information
- Email: medinfo@tayshagtx.com
- Phone: 1-833-489-8742
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.