Gene Therapy for SLC6A1 Neurodevelopmental Disorder

NCT ID: NCT07173153

Last Updated: 2025-09-15

Basic Information

• Recruitment Status: ENROLLING_BY_INVITATION
• Clinical Phase: PHASE1/PHASE2
• Total Enrollment: 1 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-08-25
• Study Completion Date: 2030-08-25

Brief Summary

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

Conditions

SLC6A1

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

AAV9.SLC6A1 Gene Therapy

Group Type: EXPERIMENTAL

AAV9.SLC6A1 Gene Therapy

Intervention Type: 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.

Interventions

AAV9.SLC6A1 Gene Therapy

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

Intervention Type: BIOLOGICAL

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• 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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Emily de los Reyes

OTHER

Sponsor Role: lead

Responsible Party

Emily de los Reyes

Principal Investigator

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Emily de los Reyes, MD

Role: PRINCIPAL_INVESTIGATOR

Nationwide Children's Hospital

Locations

Nationwide Children's Hospital

Columbus, Ohio, United States

Countries

United States

Other Identifiers

STUDY00005148

Identifier Type: -

Identifier Source: org_study_id