SLC6A1Phase 1/2NCT07173153
Gene Therapy for SLC6A1 Neurodevelopmental Disorder
A Phase 1/2 study testing AAV9.SLC6A1 Gene Therapy in people with SLC6A1, run by Emily de los Reyes at 1 site in United States.
Trial summary
This is gene therapy study of an AAV9 vector carrying the SLCA1 gene for SLC6A1 neurodevelopmental disorder. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- SLC6A1
- What is being tested?
- AAV9.SLC6A1 Gene Therapy
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 25 Aug 2025to 25 Aug 2030
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Confirmation of pathogenic mutation S295L in the SLC6A1 gene
- Ability to cooperate and complete assessments per determination of the physician and therapists
Who cannot join
- Serological evidence of HIV infection, or Hepatitis B or C infection
- Diagnosis of (or ongoing treatment) for an autoimmune disease
- Presence of a medical condition or extenuating circumstance that, in the opinion of the Sponsor-Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability
- Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥20.0 K/µL) or an absolute neutrophil count < 1.5K/µL
- Concomitant illness or requirement for chronic drug treatment that in the opinion of the Sponsor-Investigator creates unnecessary risks for gene transfer
- AAV9 binding antibody titers > 1:400 as determined by ELISA immunoassay
Show all 12Show fewer
- Contraindications for intrathecal injection procedure (e.g. spina bifida, meningitis, or clotting abnormalities)
- Abnormal laboratory values in the clinically significant range upon normal values in the Nationwide Children's Hospital Laboratory. (GGT > 78 U/L, Bilirubin ≥ 3.0 mg/dL , Creatinine ≥ 1.8 mg/dL, Hgb < 8 or > 18 g/dL; WBC > 15,000 cells per mL)
- Family does not want to disclose participant's study participation with primary care physician and other medical providers.
- Bleeding disorder or any other medical conditions or circumstances in which intrathecal (IT) administration of the product or lumbar puncture (for collection of CSF) are contradicted according to local institutional policy
- Two consecutive aminotransaminase liver tests >3 times the upper limit of normal) at screening
- Contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site
Nationwide Children's Hospital
Columbus, Ohio, 43205
About this study
Official title: Phase I/II Intrathecal Gene Delivery Clinical Trial of scAAV9.P546.SLC6A1 for SLC6A1 Neurodevelopmental Disorder
This is gene therapy study of an AAV9 vector carrying the SLCA1 gene for SLC6A1 neurodevelopmental disorder.
- Conditions
- SLC6A1
- Being tested
- AAV9.SLC6A1 Gene Therapy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AAV9.SLC6A1 Gene TherapyBiological
This is an open-label, single injection study of an AAV9 vector carrying the SLCA1 coding sequence delivered one time through an intrathecal injection.
| Study group | Role | What they receive |
|---|---|---|
| AAV9.SLC6A1 Gene Therapy | Experimental | Not described Receives: Biological: AAV9.SLC6A1 Gene Therapy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Monitoring for the development of unacceptable toxicity.
Unacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities that are at least possibly related to the product or procedure, as defined by CTCAE 5.0.
Measured: 3 years
Secondary outcomes (3)
Change the Autism Diagnostic Schedule (ADOS), Module 3, scores from baseline to 3 years following gene therapy.
Scores on the ADOS, Module 3, will be measured by a certified clinical evaluator.
Measured: 3 years
Change the Vineland Adaptive Behaviour Scale (VABS) scores from baseline to 3 years following gene therapy.
Scores on the Vineland Adaptive Behaviour Scale (VABS) will be measured by a certified clinical evaluator.
Measured: 3 years
Change the Child Behaviour Checklist scores from baseline to 3 years following gene therapy.
Scores on the Child Behaviour Checklist will be measured by a certified clinical evaluator.
Measured: 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Sep 2025
- Study start25 Aug 2025
- Primary completion25 Aug 2028 (estimated)
- Study completion25 Aug 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for SLC6A1Studies 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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Emily de los Reyes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Emily de los Reyes, Nationwide Children's Hospital
- Investigators
- Emily de los Reyes, MD, Principal investigator, Nationwide Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07173153
- Sponsor's protocol ID
- STUDY00005148
- Status last verified
- Sep 2025
- First submitted
- 8 Sep 2025
- Last updated
- 15 Sep 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No: Due to this being an N = 1 study, providing IPD publicly would likely deidentify the participant.
Publications
Samanta D. SLC6A1-Related Neurodevelopmental Disorder: A Scoping Review of Clinical Features and Emerging Therapeutic Strategies. Pediatr Neurol. 2026 Jul;180:155-170. doi: 10.1016/j.pediatrneurol.2026.04.014. Epub 2026 May 5.
PubMed 42173049
Study at a glance
From the registry record, last updated by the sponsor on 15 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Phase I/II Intrathecal Gene Delivery Clinical Trial of scAAV9.P546.SLC6A1 for SLC6A1 Neurodevelopmental Disorder
- ClinicalTrials.gov ID
- NCT07173153
- Acronym / sponsor ID
- STUDY00005148
- Conditions
- SLC6A1
- Phase
- Phase 1/2
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1 participants (estimated)
- Lead sponsor
- Emily de los ReyesUniversity, hospital or other
- Study start
- 25 Aug 2025 (actual)
- Primary completion
- 25 Aug 2028 (estimated)
- Study completion
- 25 Aug 2030 (estimated)
- First posted
- 15 Sep 2025 (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.
This is gene therapy study of an AAV9 vector carrying the SLCA1 gene for SLC6A1 neurodevelopmental disorder.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| AAV9.SLC6A1 Gene Therapy | Experimental | Biological: AAV9.SLC6A1 Gene Therapy |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (2 listed)
- Confirmation of pathogenic mutation S295L in the SLC6A1 gene
- Ability to cooperate and complete assessments per determination of the physician and therapists
Key exclusion criteria (12 listed)
- Serological evidence of HIV infection, or Hepatitis B or C infection
- Diagnosis of (or ongoing treatment) for an autoimmune disease
- Presence of a medical condition or extenuating circumstance that, in the opinion of the Sponsor-Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability
- Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥20.0 K/µL) or an absolute neutrophil count < 1.5K/µL
- Concomitant illness or requirement for chronic drug treatment that in the opinion of the Sponsor-Investigator creates unnecessary risks for gene transfer
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 |
|---|---|---|
| AAV9.SLC6A1 Gene TherapyThis is an open-label, single injection study of an AAV9 vector carrying the SLCA1 coding sequence delivered one time through an intrathecal injection. | Biological | AAV9.SLC6A1 Gene Therapy |
Primary outcome
Monitoring for the development of unacceptable toxicity.
Time frame: 3 years
Unacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities that are at least possibly related to the product or procedure, as defined by CTCAE 5.0.
3 secondary outcomes
Change the Autism Diagnostic Schedule (ADOS), Module 3, scores from baseline to 3 years following gene therapy.
Time frame: 3 years
Change the Vineland Adaptive Behaviour Scale (VABS) scores from baseline to 3 years following gene therapy.
Time frame: 3 years
Change the Child Behaviour Checklist scores from baseline to 3 years following gene therapy.
Time frame: 3 years
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 Sep 2025.
- Derived from this study: PubMed 42173049Samanta D. SLC6A1-Related Neurodevelopmental Disorder: A Scoping Review of Clinical Features and Emerging Therapeutic Strategies. Pediatr Neurol. 2026 Jul;180:155-170. doi: 10.1016/j.pediatrneurol.2026.04.014. Epub 2026 May 5.
- Individual participant dataSharing planned: No. Due to this being an N = 1 study, providing IPD publicly would likely deidentify the participant.
Related trials for SLC6A1
RecruitingPhase 2
A Fully Remote Feasibility Trial of Phenylbutyrate for SLC6A1-Related Disorders
SLC6A1
RecruitingObservational study
SLC6A1-NDD Prospective Longitudinal Natural History Study
SLC6A1 Neurodevelopmental Disorder (NDD), Developmental and Epileptic Encephalopathies (DEE)
RecruitingObservational study
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
16P11.2 Deletion Syndrome, 16p11.2 Duplications
Active, not recruitingEarly Phase 1
Phenylbutyrate for Monogenetic Developmental and Epileptic Encephalopathy
STXBP1 Encephalopathy With Epilepsy, SLC6A1 Neurodevelopmental Disorder, Developmental and Epileptic Encephalopathy
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.
Emily de los Reyes, MD principal investigator
Nationwide Children's Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1/2 study testing AAV9.SLC6A1 Gene Therapy in people with SLC6A1, run by Emily de los Reyes at 1 site 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 2 inclusion and 12 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: enrolling by invitation, as of the sponsor's last update on 15 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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 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?
Monitoring for the development of unacceptable toxicity. (time frame: 3 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07173153, which also lists 1 linked publication.
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 Sep 2025.