A Phase 1/2/3 Study of TSHA-102 Gene Therapy in Females With Rett Syndrome (REVEAL Pivotal Study)

a study on Rett Syndrome

Summary

Eligibility
for females ages 6-21 (full criteria)
Location
at UCSD
Dates
study started
study ends around

Description

Summary

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.

Official Title

An Open-label Phase 1/2/3 Study Consisting of a Phase 1/2 Safety and Dose-escalation and Phase 3 Dose-expansion Study to Evaluate Safety and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy in Females With Rett Syndrome

Details

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.

Keywords

Rett Syndrome, Neurodevelopmental disorder, Rett, MECP2, AAV9, Typical Rett Syndrome, Classic Rett Syndrome, RTT, Rett Disorder, Retts, MECP2-Related Disorder, Gene Therapy, Intrathecal Administration, Genetic Diseases, X-Linked, Nervous System Diseases, Developmental Regression, TSHA-102, miRARE, Self-complementary Vector, Neurologic Manifestations, Intellectual Disability, Pathologic Process, X-Linked Intellectual Disability, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Neurodevelopmental Disorders, X-Linked Genetic Diseases, Pathologic Processes

Eligibility

You can join if…

Open to females ages 6-21

  • Females between the ages of 12 and <22 in Part A (closed) and females between the ages of 6 and <22 in Part B (pivotal cohort).
  • 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

You CAN'T join if...

  • 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

Locations

  • UC San Diego accepting new patients
    La Jolla California 92093 United States
  • Washington University, St. Louis accepting new patients
    St Louis Missouri 63110 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Taysha Gene Therapies, Inc.
ID
NCT05606614
Phase
Phase 3 Rett Syndrome Research Study
Study Type
Interventional
Participants
Expecting 15 study participants
Last Updated
Contact us about this trial