Preclinical Milestones in MECP2 Gene Transfer for Treating Rett Syndrome.
Indumathy Jagadeeswaran, Jiyoung Oh, Sarah E Sinnett
https://pubmed.ncbi.nlm.nih.gov/38723617Actively Recruiting
Phase 3
Age: 6Years - 21Years
FEMALE
ID05606614
An Open-label Phase 1/2/3 Study to Evaluate Safety and Efficacy of a Single Intrathecal Administration of TSHA-102 Gene Therapy in Females With Rett Syndrome
Led by Taysha Gene Therapies, Inc. · Updated on 2025-12-30
15
Participants Needed
6
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying TSHA-102 gene therapy in females with typical Rett syndrome, a genetic condition caused by mutations in the MECP2 gene. The study aims to evaluate the safety of a single dose of TSHA-102 given into the spinal fluid and to find the dose with the best balance of safety and potential benefit. This trial includes phases 1, 2, and 3, with initial dose-finding followed by evaluation of efficacy and safety at the selected dose. The study involves two parts: Part A, which assessed safety and dose levels with two doses of TSHA-102 in 6 participants, and Part B, which evaluates the chosen dose in 15 females aged 6 to under 22 years. TSHA-102 is a gene therapy delivered once through an injection into the spinal fluid (intrathecal administration). Participants receive only one dose during the study. Participants are followed for five years after treatment to monitor safety and outcomes. Researchers will assess safety and tolerability during the first year and evaluate efficacy outcomes over the same period. Participants will have regular visits for medical assessments, and their progress will be tracked long-term to understand the effects and safety of TSHA-102.
CONDITIONS
Brief Title
A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)
Who Can Participate
Age: 6Years - 21Years
FEMALE
Eligibility Criteria
You may qualify if you...
- Female participants between the ages of 6 and under 22 years in the pivotal cohort
- Clinical diagnosis of typical Rett syndrome with a pathogenic MECP2 gene mutation causing loss of function
- Willingness to receive blood or blood products if medically needed
- Participant and caregiver agree to live near the study site before baseline and for at least 3 months after treatment
You will not qualify if you...
- Presence of another neurodevelopmental disorder unrelated to MECP2 mutation or any other progressive genetic syndrome
- History of brain injury causing neurological problems or abnormal psychomotor development in the first 6 months of life
- Diagnosis of atypical Rett syndrome or MECP2 mutation not causing Rett syndrome
- Requirement for invasive ventilatory support
AI-Screening
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1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Treatment
Duration - Single administration with follow-up through Week 52
Participants receive a single intrathecal administration of TSHA-102 gene therapy to target the genetic root cause of Rett syndrome.
1 treatment visit and multiple follow-up visits through Week 52
Follow-up
Duration - Up to 5 years after administration
Participants are observed and monitored for safety and efficacy for an extended period after treatment.
Periodic visits for up to 5 years
Trial Site Locations
Total: 6 locations
1
UC San Diego
La Jolla, California, United States, 92093
Actively Recruiting
2
Rush University Medical Center
Chicago, Illinois, United States, 60612
Actively Recruiting
3
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
4
Washington University, St. Louis
St Louis, Missouri, United States, 63110
Actively Recruiting
5
UT Southwestern Children's Medical Center
Dallas, Texas, United States, 75930
Actively Recruiting
6
CHU St. Justine
Montreal, Quebec, Canada
Actively Recruiting
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Research Team
T
Taysha Gene Therapies Medical Information
How is the study designed?
Study Type
INTERVENTIONAL
Masking
SINGLE
Allocation
NON_RANDOMIZED
Model
SEQUENTIAL
Primary Purpose
TREATMENT
Number of Arms
3
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Published Research Related To This Trial
The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.
Chanchal Sadhu, Christopher Lyons, Jiyoung Oh...
https://pubmed.ncbi.nlm.nih.gov/38254921