Gene Therapy for SLC6A1 Neurodevelopmental Disorder

NCT07173153 | Enrolling By Invitation Phase 1 DMC FDA Drug

• 1 other identifier: STUDY00005148
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

This is gene therapy study of an AAV9 vector carrying the SLCA1 gene for SLC6A1 neurodevelopmental disorder.

Conditions

SLC6A1

Outcome Measures

Primary Outcomes (1)

• 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.

  3 years

Secondary Outcomes (3)

• Change the Autism Diagnostic Schedule (ADOS), Module 3, scores from baseline to 3 years following gene therapy.

  3 years

• Change the Vineland Adaptive Behaviour Scale (VABS) scores from baseline to 3 years following gene therapy.

  3 years

• Change the Child Behaviour Checklist scores from baseline to 3 years following gene therapy.

  3 years

Study Arms (1)

AAV9.SLC6A1 Gene Therapy

EXPERIMENTAL

Biological: AAV9.SLC6A1 Gene Therapy

Interventions

AAV9.SLC6A1 Gene Therapy BIOLOGICAL

This is an open-label, single injection study of an AAV9 vector carrying the SLCA1 coding sequence delivered one time through an intrathecal injection.

AAV9.SLC6A1 Gene Therapy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Confirmation of pathogenic mutation S295L in the SLC6A1 gene
• Ability to cooperate and complete assessments per determination of the physician and therapists

You may not qualify if:

• 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

Sponsors & Collaborators

• Emily de los Reyes: lead

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Study Officials

• Emily de los Reyes, MD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: September 8, 2025
• First Posted: September 15, 2025
• Study Start: August 25, 2025
• Primary Completion (Estimated): August 25, 2028
• Study Completion (Estimated): August 25, 2030
• Last Updated: September 15, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)