Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: TSHA-102.
- Who it may be relevant to
- Registry conditions: Rett Syndrome. Basic parameters: 2 years — 3 years · Female.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
ASPIRE Study: A Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females Aged >2 to <4 Years With Rett Syndrome
Overview
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.
Detailed description
ASPIRE is an open-label study designed to evaluate the safety, tolerability and preliminary efficacy of TSHA-102 in 3 pediatric females aged 2 to less than 4 years old with typical Rett syndrome.
TSHA-102 is designed to target the genetic root cause of Rett syndrome by regulating the expression of MECP2 in cells. Each participant will be followed for the observation period of 5 years after TSHA-102 administration.
Interventions
- Genetic 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.
Primary outcome measures
- Primary Safety [Time frame: Baseline through Week 25]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
United States · 1 center
- Boston Children's Hospital — Boston
Identifiers
NCT: NCT07480564 · TSHA-102-CL-201