Rett SyndromePhase 3ASPIRENCT07480564
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
A Phase 3 study testing TSHA-102 in people with Rett Syndrome, run by Taysha Gene Therapies, Inc. at 3 sites in United States.
Trial summary
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome. Read more about this study
- Who is it for?
- Ages 2 to 3 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
- 4 participants
- Where
- 3 sitesUnited States
- Study dates
- 8 May 2026to Jun 2031
- Phase
- Phase 3
- 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 2 to 3 years
- Women only
- No healthy volunteers
- Child
Who may be able to join
- Pediatric females between the ages of 2 and less than 4 years old.
- 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.
Who cannot join
- 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
Trial locations and contacts
3 sites in 1 country.
United States3 sites
University of Alabama at Birmingham
Birmingham, Alabama, 35233
Boston Children's Hospital
Boston, Massachusetts, 02115
Rush University Medical Center
Chicago, Illinois, 60612
About this study
Official title: ASPIRE Study: A Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
Read the detailed description
ASPIRE is an open-label study designed to evaluate the safety, tolerability and preliminary efficacy of TSHA-102 in 3 pediatric females aged 2 to less than 4 years old 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.
- Conditions
- Rett Syndrome
- Being tested
- TSHA-102
- Keywords
- Neurodevelopmental Disorders, 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
- Medical subject headings
- Rett Syndrome, Neurodevelopmental Disorders, Genetic Diseases, X-Linked, Nervous System Diseases, Neurologic Manifestations, Intellectual Disability, Pathologic Processes, X-Linked Intellectual Disability
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 adeno-associated virus serotype 9 (scAAV9) vector encoding for the miniMECP2 gene. TSHA-102 is a one-time intrathecal (IT) administration.
| Study group | Role | What they receive |
|---|---|---|
| Treatment | Experimental | Participants receive a single intrathecal (IT) administration of TSHA-102 at 1.0 × 10¹⁵ total vector genomes (vg) adjusted for the participant's brain volume. Receives: Genetic: TSHA-102 |
What is being measured
The primary outcome is the main question the study is designed to answer.
Primary Safety
Safety and Tolerability of TSHA-102
Proportions of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)
Measured: Baseline through Week 25
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2026
- Study start8 May 2026
- Primary completionJun 2031 (estimated)
- Study completionJun 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 3
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Participants will receive a single dose of TSHA-102 at a dose level of 1.0×10¹⁵ total vector genomes (vg) adjusted for the participant's brain volume. TSHA-102 will be administered via lumbar puncture (LP). The study comprises a screening period, TSHA-102 administration, a primary safety analysis period through 25 weeks post TSHA-102 administration, and an extended follow-up observation period through 5 years post TSHA-102 administration.
- Masking
- None (open label)
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Taysha Gene Therapies, Inc.
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Monitor, M.D., Study director, Taysha Gene Therapies
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07480564
- Sponsor's protocol ID
- TSHA-102-CL-201
- Acronym
- ASPIRE
- Status last verified
- Aug 2026
- First submitted
- 13 Mar 2026
- Last updated
- 19 Aug 2026
- 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 19 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ASPIRE Study: A Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of a Single Intrathecal Administration of TSHA-102, an AAV9-Delivered Gene Therapy, for the Treatment of Pediatric Females Aged >2 to <4 Years With Rett Syndrome
- ClinicalTrials.gov ID
- NCT07480564
- Acronym / sponsor ID
- ASPIRE / TSHA-102-CL-201
- Conditions
- Rett Syndrome
- Keywords
- Neurodevelopmental Disorders, Rett, MECP2, AAV9, Typical Rett Syndrome, Classic Rett Syndrome, RTT, Rett Disorder
- Phase
- Phase 3
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Taysha Gene Therapies, Inc.Industry (pharma, biotech, devices)
- Study start
- 8 May 2026 (actual)
- Primary completion
- Jun 2031 (estimated)
- Study completion
- Jun 2031 (estimated)
- First posted
- 18 Mar 2026 (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 primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
Detailed description
ASPIRE is an open-label study designed to evaluate the safety, tolerability and preliminary efficacy of TSHA-102 in 3 pediatric females aged 2 to less than 4 years old 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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Participants will receive a single dose of TSHA-102 at a dose level of 1.0×10¹⁵ total vector genomes (vg) adjusted for the participant's brain volume. TSHA-102 will be administered via lumbar puncture (LP). The study comprises a screening period, TSHA-102 administration, a primary safety analysis period through 25 weeks post TSHA-102 administration, and an extended follow-up observation period through 5 years post TSHA-102 administration.
| Arm | Type | Receives |
|---|---|---|
| Treatment | Experimental | Genetic: TSHA-102Participants receive a single intrathecal (IT) administration of TSHA-102 at 1.0 × 10¹⁵ total vector genomes (vg) adjusted for the participant's brain volume. |
Who may qualify
- Ages
- 2 to 3 years
- Sex
- Female only
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (4 listed)
- Pediatric females between the ages of 2 and less than 4 years old.
- 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.
Key exclusion criteria (5 listed)
- 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
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 adeno-associated virus serotype 9 (scAAV9) vector encoding for the miniMECP2 gene. TSHA-102 is a one-time intrathecal (IT) administration. | Genetic | Treatment |
Primary outcome
Primary Safety
Time frame: Baseline through Week 25
Safety and Tolerability of TSHA-102 Proportions of participants experiencing any treatment-emergent adverse events (AEs) and serious adverse events (SAEs)
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 19 Aug 2026.
- 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.
Medical Monitor, M.D. study director
Taysha Gene Therapies
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 3 study testing TSHA-102 in people with Rett Syndrome, run by Taysha Gene Therapies, Inc. at 3 sites in United States.
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 5 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 19 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. 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 phase mean?
Phase 3 studies compare the treatment with the current standard treatment or a placebo in a large group, to confirm how well it works and watch for side effects.
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 25). 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 19 Aug 2026.