Rett Syndrome
Conditions
Keywords
Rett Syndrome, Neurodevelopmental Disorder, MECP2
Brief summary
The REVEAL Pediatric Study is a multi-center, Phase 1/2 open-label, dose-escalation and dose-expansion study of TSHA-102, an investigational gene therapy, in pediatric females with Rett Syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated. The study duration is up to 6 years.
Interventions
GENETICTSHA-102
TSHA-102 is a recombinant, non-replicating, self-complementary AAV9 (scAAV9) vector encoding for the miniMECP2 gene. TSHA-102 is a one-time intrathecal (IT) administration.
Sponsors
Taysha Gene Therapies, Inc.
Study design
Allocation
RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
5 Years to 8 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Primary Safety | Baseline through week 52 | The incidence of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Exploratory Efficacy | Baseline through week 52 | Change from baseline in participant's status after TSHA-102 administration as assessed by Clinical Global Impressions Improvement (CGI-I). This 7-point scale (1 = very much improved, 7 = very much worse, etc.) is used by the clinician to assess the participant's overall performance status; higher scores indicate increased severity. |
Countries
Canada, United Kingdom, United States
Outcome results
None listed