TSHA-102: TSHA-102 is a recombinant, non-replicating, self-complementary adeno-associated virus serotype 9 (scAAV9) vector encoding for the miniMECP2 gene. TSHA-102 is a one-time intrathecal (IT) administration.
Study summary
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
Eligibility
Sex
FEMALE
Min age
2 Years
Max age
3 Years
Healthy volunteers
No
Inclusion Criteria:
* Pediatric females between the ages of 2 and less than 4 years old.
* 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
Primary outcome measure(s)
Primary Safety — Baseline through Week 25 Safety and Tolerability of TSHA-102
Proportions of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)
Trial sites (3)
Facility
City
Region
Status
University of Alabama at Birmingham
Birmingham
Alabama
Rush University Medical Center
Chicago
Illinois
Boston Children's Hospital
Boston
Massachusetts
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This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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