[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07173153":3,"trial-entities:NCT07173153":95,"trial-summary:NCT07173153":100},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":21,"primary_purpose":22,"phases":23,"enrollment_info":26,"interventions":29,"primary_outcomes":35,"secondary_outcomes":40,"sex":50,"minimum_age":17,"maximum_age":17,"healthy_volunteers":51,"eligibility_criteria":52,"std_ages":70,"locations":74,"central_contacts":84,"overall_officials":85,"references":89,"see_also_links":94},"NCT07173153","STUDY00005148","Gene Therapy for SLC6A1 Neurodevelopmental Disorder","Phase I\u002FII Intrathecal Gene Delivery Clinical Trial of scAAV9.P546.SLC6A1 for SLC6A1 Neurodevelopmental Disorder","ENROLLING_BY_INVITATION","2030-08-25","2025-09","2025-09-15","2025-08-25","Emily de los Reyes","OTHER",true,"This is gene therapy study of an AAV9 vector carrying the SLCA1 gene for SLC6A1 neurodevelopmental disorder.",null,[19],"SLC6A1",[],"INTERVENTIONAL","TREATMENT",[24,25],"PHASE1","PHASE2",{"count":27,"type":28},1,"ESTIMATED",[30],{"type":31,"name":32,"description":33,"armGroupLabels":34},"BIOLOGICAL","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.",[32],[36],{"measure":37,"description":38,"timeFrame":39},"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",[41,44,47],{"measure":42,"description":43,"timeFrame":39},"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.",{"measure":45,"description":46,"timeFrame":39},"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.",{"measure":48,"description":49,"timeFrame":39},"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.","ALL",false,{"inclusion":53,"exclusion":56,"raw_text":69},[54,55],"Confirmation of pathogenic mutation S295L in the SLC6A1 gene","Ability to cooperate and complete assessments per determination of the physician and therapists",[57,58,59,60,61,62,63,64,65,66,67,68],"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\u002FµL or ≥20.0 K\u002FµL) or an absolute neutrophil count \\\u003C 1.5K\u002FµL","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\u002FL, Bilirubin ≥ 3.0 mg\u002FdL , Creatinine ≥ 1.8 mg\u002FdL, Hgb \\\u003C 8 or \\> 18 g\u002FdL; 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","Inclusion Criteria:\n\n* Confirmation of pathogenic mutation S295L in the SLC6A1 gene\n* Ability to cooperate and complete assessments per determination of the physician and therapists\n\nExclusion Criteria:\n\n* Serological evidence of HIV infection, or Hepatitis B or C infection\n* Diagnosis of (or ongoing treatment) for an autoimmune disease\n* 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\n* Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K\u002FµL or ≥20.0 K\u002FµL) or an absolute neutrophil count \\\u003C 1.5K\u002FµL\n* Concomitant illness or requirement for chronic drug treatment that in the opinion of the Sponsor-Investigator creates unnecessary risks for gene transfer\n* AAV9 binding antibody titers \\> 1:400 as determined by ELISA immunoassay\n* Contraindications for intrathecal injection procedure (e.g. spina bifida, meningitis, or clotting abnormalities)\n* Abnormal laboratory values in the clinically significant range upon normal values in the Nationwide Children's Hospital Laboratory. (GGT \\> 78 U\u002FL, Bilirubin ≥ 3.0 mg\u002FdL , Creatinine ≥ 1.8 mg\u002FdL, Hgb \\\u003C 8 or \\> 18 g\u002FdL; WBC \\> 15,000 cells per mL)\n* Family does not want to disclose participant's study participation with primary care physician and other medical providers.\n* 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\n* Two consecutive aminotransaminase liver tests \\>3 times the upper limit of normal) at screening\n* Contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, aneurysm clip in the brain",[71,72,73],"CHILD","ADULT","OLDER_ADULT",[75],{"facility":76,"city":77,"state":78,"zip":79,"country":80,"geoPoint":81},"Nationwide Children's Hospital","Columbus","Ohio","43205","United States",{"lat":82,"lon":83},39.96118,-82.99879,[],[86],{"name":87,"affiliation":76,"role":88},"Emily de los Reyes, MD","PRINCIPAL_INVESTIGATOR",[90],{"pmid":91,"type":92,"citation":93},"42173049","DERIVED","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\u002Fj.pediatrneurol.2026.04.014. Epub 2026 May 5.",[],{"nct_id":4,"conditions":96,"biomarkers":98},[97],"Neurodevelopmental Disorder",[99],"SLC6A1 Gene",{"nct_id":4,"found":15,"summary":101,"prompt_version":110},{"design":102,"status":103,"heading":6,"summary":104,"follow_up":105,"word_count":106,"commitments":107,"compensation":108,"drugs_mentioned":109},"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.","completed","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\u002FC, or an autoimmune disease. This study is currently unclear on its recruitment status and plans to enroll one participant.","You will be monitored for the development of unacceptable toxicity for three years after the treatment.",101,"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.","Not stated in the trial record.",[32],"v2"]