Clinical trial NCT06152237: Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)
Official title: A Multicenter, Open Label, Randomized, Dose-Escalation and Dose-Expansion Study of the Safety, Tolerability, and Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females With Rett Syndrome
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: PHASE1
PHASE2
Conditions: Rett Syndrome
Keywords: Rett Syndrome
Neurodevelopmental Disorder
MECP2
Lead sponsor: Taysha Gene Therapies, Inc.
Sponsor class: INDUSTRY
First posted: 2023-11-30
Enrollment: 20
Sex: FEMALE
Minimum age (years): 5
Maximum age (years): 8
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: SEQUENTIAL
Primary purpose: TREATMENT

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Primary Safety
timeFrame: Baseline through week 52
Secondary outcomes:
measure: Exploratory Efficacy
timeFrame: Baseline through week 52
measure: Exploratory Efficacy
timeFrame: Baseline through week 52
measure: Exploratory Efficacy
timeFrame: Baseline through week 52
measure: Exploratory Efficacy
timeFrame: Baseline through week 52
measure: Exploratory Efficacy
timeFrame: Baseline through week 52
measure: Exploratory Efficacy
timeFrame: Baseline through week 52
Other outcomes:
Locations:
city: La Jolla
country: United States
facility: University of California San Diego (UCSD)
state: California
city: Chicago
country: United States
facility: Rush University Medical Center & Children's Hospital
state: Illinois
city: Boston
country: United States
facility: Boston Children's at Brookline
state: Massachusetts
city: St. Paul
country: United States
facility: Gillette Children's Specialty Healthcare
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University, St. Louis
state: Missouri
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia Research Institute
state: Pennsylvania
city: Nashville
country: United States
facility: Vanderbilt Kennedy Center
state: Tennessee
city: Dallas
country: United States
facility: University of Texas Southwestern Medical Center (UTSW)
state: Texas
city: Montréal
country: Canada
facility: CHU Ste-Justine
state: Quebec
city: London
country: United Kingdom
facility: Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust
Study officials:
affiliation: Taysha Gene Therapies
name: Laura Pisani, M.D.
role: STUDY_DIRECTOR
References: