Gene Therapy for SLC6A1 Neurodevelopmental Disorder

This study is testing a gene therapy called AAV9.SLC6A1 Gene Therapy for people with SLC6A1 neurodevelopmental disorder. This treatment involves a single injection into the spinal fluid. The main goal of this study is to see if the treatment causes any unacceptable side effects over three years. To join, you must have a specific genetic change (S295L mutation) in the SLC6A1 gene and be able to participate in assessments. You cannot join if you have certain infections like HIV or Hepatitis B/C, or an autoimmune disease. This study is currently unclear on its recruitment status and plans to enroll one participant.

Study design: This is an open-label study, meaning both you and the study team will know which treatment you are receiving. It is an interventional study, meaning you will receive a specific treatment, and plans to enroll one participant.
What's involved: You would receive one injection of the AAV9.SLC6A1 Gene Therapy. You would also need to cooperate and complete assessments as determined by the physician and therapists.
Compensation: Not stated in the trial record.
Follow-up: You will be monitored for the development of unacceptable toxicity for three years after the treatment.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

Gene Therapy for SLC6A1 Neurodevelopmental Disorder

Enrolling by Invitation

PHASE1All AgesInterventionalTreatment

Emily de los Reyes

~1 participants

Updated 2025-09-15 on ClinicalTrials.gov

What's tested:AAV9.SLC6A1 Gene Therapy

At a glance

Recruiting sites

0 of 1 listed site is recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Monitoring for the development of unacceptable toxicity.

Measured over 3 years

Conditions

SLC6A1

Where it's being run

1 sites across 1 states

Ohio1

Study leadership

Emily de los Reyes, MD · PRINCIPAL_INVESTIGATOR · Nationwide Children's Hospital

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Confirmation of pathogenic mutation S295L in the SLC6A1 gene

Ability to cooperate and complete assessments per determination of the physician and therapists

Exclusion

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

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

What this trial measures

Monitoring for the development of unacceptable toxicity.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.

Trialytics