A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study) (NCT05606614) | Clinical Trial Compass
Active — Not RecruitingPhase 3
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
United States, Canada17 participantsStarted 2023-03-06
Plain-language summary
The primary objectives of this study are to evaluate the safety of a single intrathecal (IT) dose of TSHA-102 in females with typical Rett syndrome, to select the TSHA-102 dose with the best benefit/risk profile based on the totality of safety and efficacy data and to evaluate the efficacy and safety of TSHA-102 at the selected dose.
Who can participate
Age range
6 Years – 21 Years
Sex
FEMALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Females between the ages of 12 and \<22 in Part A (closed) and females between the ages of 6 and \<22 in Part B (pivotal cohort).
* Participant has a clinical diagnosis of classic/typical Rett syndrome with a documented pathogenic mutation of the methyl-CpG-binding protein 2 (MECP2) gene that results in loss of gene function.
* Participants must be willing to receive blood or blood products for the treatment of an AE if medically needed.
* Participants and parent/caregiver must agree to reside within easy access to the study site prior to the baseline visit and at least 3 months after TSHA-102 treatment
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 or had grossly abnormal psychomotor development in the first 6 months of life.
* Participant has a diagnosis of atypical Rett syndrome or a MECP2 gene mutation that does not cause Rett syndrome.
* Participant requires invasive ventilatory support.
Note: Other protocol defined inclusion/exclusion criteria may apply
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this is a Phase 1/2/3 trial that includes an early safety phase, what is currently known about the safety profile of TSHA-102 in the girls who have already received it, and are there any side effects my doctor would want us to watch for?
2The trial is listed as 'active but not recruiting,' which means they are no longer enrolling new participants — does my doctor know of any similar gene therapy trials for Rett Syndrome that are currently open, or is standard care the better path for us right now?
3Since TSHA-102 is a gene therapy, what does that mean in practical terms for my daughter's body — is it a one-time treatment, and how would it interact with any medications or therapies she is already receiving?
4What outcomes is the trial measuring to define 'efficacy,' and based on what my doctor has seen in early data or medical literature, how meaningful could those improvements realistically be for a girl at my daughter's current stage of Rett Syndrome?
5If we are not able to join this trial, are there other clinical trials or emerging treatments for Rett Syndrome that my doctor would recommend we look into, or should we focus on maximizing her current therapy and support plan?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.