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.
REVEAL Part A (Phase 1/2) is an open-label safety and dose-finding study designed to evaluate the safety and preliminary efficacy of two dose levels of TSHA-102 to establish initial safety of TSHA-102 and select a safe and efficacious dose for further evaluation. Enrollment of 6 participants in Part A is complete. REVEAL Part B (Phase 3) will evaluate the efficacy and safety of TSHA-102 at the dose level 2 determined in Part A in 15 females ages 6 to \<22 years 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 in Part A and B.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
SINGLE
Enrollment
15
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.
UC San Diego
La Jolla, California, United States
RECRUITINGRush University Medical Center
Chicago, Illinois, United States
RECRUITINGBoston Children's Hospital
Boston, Massachusetts, United States
Part A: Safety and Tolerability of TSHA-102
Proportions of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)
Time frame: Baseline through Week 52
Part B: Efficacy of TSHA-102
Change from baseline in percentage of participants who gain or regain any one or more of the 28 items from the Developmental Milestones Assessment (DMA), which are video recorded and scored by independent, blinded central raters.
Time frame: Baseline through Week 52
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Washington University, St. Louis
St Louis, Missouri, United States
RECRUITINGUT Southwestern Children's Medical Center
Dallas, Texas, United States
RECRUITINGCHU St. Justine
Montreal, Quebec, Canada
RECRUITING