Safety and Efficacy of TSHA-102 in Adolescent and Adult Females with Rett Syndrome (REVEAL Adult Study)

Phase 1

Recruiting

• Conditions: Rett Syndrome
• Interventions: Genetic: TSHA-102

• Registration Number: NCT05606614
• Lead Sponsor: Taysha Gene Therapies, Inc.

Brief Summary

The REVEAL Adult Study is a multi-center, Phase 1/2 open-label, dose-escalation study of TSHA-102, an investigational gene therapy, in adult females with Rett syndrome. The safety, tolerability, and preliminary efficacy of two dose levels will be evaluated.

The study duration is estimated to be up to 63 months.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-10-28
• Study First Submitted QC: 2022-11-02
• Study First Posted: 2022-11-07
• Study Start: 2023-03-06
• Status Verified: 2024-11
• Last Update Submitted: 2024-11-11
• Last Update Posted: 2024-11-13
• Primary Completion: 2025-01-31
• Study Completion: 2032-01-05

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 18

Inclusion Criteria

• Participant has a clinical diagnosis of classical/typical Rett syndrome with a documented pathogenic mutation of the methyl-CpG-binding protein 2 (MECP2) gene that results in loss of function.
• Participants must be willing to receive blood or blood products for the treatment of an AE if medically needed.

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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.
• Participant had grossly abnormal psychomotor development in the first 6 months of life.
• Participant has a diagnosis of atypical Rett syndrome.
• Participant has a MECP2 mutation that does not cause Rett syndrome.
• Participant requires invasive ventilatory support.
• Participant has contraindications for IT administration of TSHA-102 or lumbar puncture procedure, or other medical conditions, or contraindications to any medications required for IT administration.
• Participant has uncontrolled seizures or a history of status epilepticus within the 3 months prior to enrollment.

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Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SEQUENTIAL

Arm && Interventions

Group	Intervention	Description
Cohort 1	TSHA-102	Dose Level 1
Cohort 2	TSHA-102	Dose Level 2

Primary Outcome Measures

Name	Time	Method
Change from baseline in participant's status after TSHA-102 administration as assessed by Clinical Global Impressions-Improvement (CGI-I) scale, adapted to Rett syndrome	Baseline through Week 52
Change from baseline in participant's status after TSHA-102 administration as assessed by the Rett Syndrome Hand Function Scale (RSHFS)	Baseline through Week 52
Proportions of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)	Baseline through Week 52
Change from baseline in participant's status after TSHA-102 administration as assessed by the Revised Motor Behavior Assessment (R-MBA)	Baseline through Week 52

Secondary Outcome Measures

Name	Time	Method
Change from baseline in adaptive behavior as assessed by Vineland-3	Baseline through Week 52
Change from baseline in monthly seizure frequency (52 weeks)	Baseline through Week 52
Change from Baseline in quantitative EEG findings with auditory evoked potentials	Baseline through Week 52
Change from Baseline in participant's status after TSHA-102 administration as assessed by Clinical Global Impressions-Severity (CGI-S)	Baseline through Week 52
Change from Baseline in quantitative EEG findings with visual evoked potentials	Baseline through Week 52

Trial Locations

Locations (6)

CHU St. Justine; 🇨🇦 Montréal, Quebec, Canada

UC San Diego; 🇺🇸 La Jolla, California, United States

Rush University Medical Center; 🇺🇸 Chicago, Illinois, United States

Boston Children's Hospital; 🇺🇸 Boston, Massachusetts, United States

Gillette Children's Hospital; 🇺🇸 St. Paul, Minnesota, United States

UT Southwestern Medical Center; 🇺🇸 Dallas, Texas, United States