Rett SyndromePhase 1/2NCT06152237
Safety and Efficacy of TSHA-102 in Pediatric Females With Rett Syndrome (REVEAL Pediatric Study)
A Phase 1/2 study testing TSHA-102 in people with Rett Syndrome, run by Taysha Gene Therapies, Inc. at 5 sites in 3 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 5 to 8 years, women only
- Conditions the study is for
- Rett Syndrome
- What is being tested?
- TSHA-102
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 6 participants
- Where
- 5 sitesin 3 countries
- Study dates
- 12 Dec 2023to 2 Nov 2031
- Phase
- Phase 1/2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 to 8 years
- Women only
- No healthy volunteers
- Child
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
5 sites in 3 countries.
5 sites in 3 countries
United States3 sites
Rush University Medical Center & Children's Hospital
Chicago, Illinois, 60612
Gillette Children's Specialty Healthcare
Saint Paul, Minnesota, 55101
Washington University, St. Louis
St Louis, Missouri, 63110
United Kingdom1 site
Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust
London
About this 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
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.
- Conditions
- Rett Syndrome
- Being tested
- TSHA-102
- Keywords
- Rett Syndrome, Neurodevelopmental Disorder, MECP2
- Medical subject headings
- Rett Syndrome, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
TSHA-102Genetic
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.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Experimental | Dose Level 1 Receives: Genetic: TSHA-102 |
| Cohort 2 | Experimental | Dose Level 2 Receives: Genetic: TSHA-102 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary Safety
The incidence of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)
Measured: Baseline through week 52
Secondary outcomes (6)
Exploratory Efficacy
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.
Measured: Baseline through week 52
Exploratory Efficacy
Change from baseline in participant's status after TSHA-102 administration as assessed by Revised Motor Behavior Assessment (R-MBA). This 34-item questionnaire with scores of 0-4 will be administered by a cliniciant to indicate frequency of daily activities (behavioral/social, respiratory, motor/physical, etc.) in participants with Rett Syndrome. Higher scores correlate with greater clinical severity of disease.
Measured: Baseline through week 52
Exploratory Efficacy
Change from baseline in participant's status after TSHA-102 administration as assessed by Rett Syndrome Behavior Questionnaire (RSBQ). The RSBQ is a 45-item questionnaire and is completed by the participant's Caregiver. Scores (0 = not true, 1 = somewhat/sometimes true, or 2 = very true) are applied to subscales including General Mood, Breathing Problems, Fear/Anxiety, Walking/Standing, etc.; higher scores indicate greater severity.
Measured: Baseline through week 52
Exploratory Efficacy
Change from baseline in participant's status after TSHA-102 administration as assessed by Clinical Global Impressions-Severity (CGI-S). This 7-point scale (1 = normal - not I'll all all, 7 = extremely ill, etc.) will be administered by a clinician, based on their experience with patients with the same diagnosis. A higher score indicates greater severity of illness.
Measured: Baseline through week 52
Exploratory Efficacy
Change from baseline in quantitative EEG findings with auditory evoked potential and visual evoked potentials (AEP and VEP). This testing will provide a measure of the electrophysiologic responses of the brain to visual and auditory stimuli.
Measured: Baseline through week 52
Exploratory Efficacy
The percent change from the steroid-free baseline period in monthly countable seizure frequency (MCSF). This testing will provide a measure of participants with seizure freedom following administration of TSHA-102.
Measured: Baseline through week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Nov 2023
- Study start12 Dec 2023
- Primary completion2 Nov 2028 (estimated)
- Study completion2 Nov 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Rett SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1/2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Enrolment
- 6 participants (actual)
Sponsor and investigators
- Lead sponsor
- Taysha Gene Therapies, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Laura Pisani, M.D., Study director, Taysha Gene Therapies
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06152237
- Sponsor's protocol ID
- TSHA-102-CL-102
- Status last verified
- Oct 2025
- First submitted
- 21 Nov 2023
- Last updated
- 15 Oct 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT06152237
- Acronym / sponsor ID
- TSHA-102-CL-102
- Conditions
- Rett Syndrome
- Keywords
- Rett Syndrome, Neurodevelopmental Disorder, MECP2
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 6 participants (actual)
- Lead sponsor
- Taysha Gene Therapies, Inc.Industry (pharma, biotech, devices)
- Study start
- 12 Dec 2023 (actual)
- Primary completion
- 2 Nov 2028 (estimated)
- Study completion
- 2 Nov 2031 (estimated)
- First posted
- 30 Nov 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Sequential
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | Experimental | Genetic: TSHA-102Dose Level 1 |
| Cohort 2 | Experimental | Genetic: TSHA-102Dose Level 2 |
Who may qualify
- Ages
- 5 to 8 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (8 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| TSHA-102TSHA-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. | Genetic | Cohort 1, Cohort 2 |
Primary outcome
Primary Safety
Time frame: Baseline through week 52
The incidence of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)
6 secondary outcomes
Exploratory Efficacy
Time frame: Baseline through week 52
Exploratory Efficacy
Time frame: Baseline through week 52
Exploratory Efficacy
Time frame: Baseline through week 52
Exploratory Efficacy
Time frame: Baseline through week 52
Exploratory Efficacy
Time frame: Baseline through week 52
Exploratory Efficacy
Time frame: Baseline through week 52
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Oct 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laura Pisani, M.D. study director
Taysha Gene Therapies
5 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing TSHA-102 in people with Rett Syndrome, run by Taysha Gene Therapies, Inc. at 5 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 15 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States, Canada, United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this combined phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Primary Safety (time frame: Baseline through week 52). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Oct 2025.