NCT07079696Not yet recruitingPhase 2
Investigating the Therapeutic Efficacy of All-trans Retinoic Acid in Autism Spectrum Disorder Patients With 15q11-13 Duplication Syndrome
Source: ClinicalTrials.gov · Last updated 23 Jul 2025 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
Autism spectrum disorder (ASD) , hereafter referred to as autism, is a group of neurodevelopmental disorders caused by genetic and environmental factors. Its core symptoms are social impairment, repetitive stereotyped behaviors, and restricted interests. The 15q11-13 region of the human chromosome is a locus prone to structural abnormalities leading to neurological disorders. Maternal duplications within this region lead to Dup15q syndrome , which accounts for approximately 1% of ASD cases . This region harbors multiple alleles, and current research indicates that the pathophysiological alterations in this syndrome primarily involve UBE3A . Among all genes in the 15q11-13 region, only UBE3A exhibits cell-type-specific maternal monoallelic expression . Consequently, duplication of the UBE3A gene is considered the primary pathogenic factor in the pathology of Dup15q syndrome. Studies show that the metabolic conversion of retinol to retinoic acid is impaired in ASD patients with UBE3A overexpression and corresponding animal models . Notably, dietary supplementation with all-trans retinoic acid (ATRA) has been shown to significantly ameliorate autism-like behaviors caused by UBE3A overexpression in male mice . This study aims to evaluate ATRA treatment in children with Dup15q syndrome-related autism , assessing changes in their ADOS-2 scores , to potentially provide a novel therapeutic approach for autism treatment.
- Status (registry)
- Not yet recruiting
- Phase (registry)
- Phase 2
- Study type
- Interventional
- Enrollment
- 90 (estimated)
- First submitted
- 14 Jul 2025
- Start date
- 1 Sept 2025
- Primary completion date
- 31 Jan 2027
- Lead sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
- Diseases
- Autism
- NCT number
- NCT07079696
What you commit to
- Study type: Interventional · Phase 2
- Planned participants: 90
- From 1 Sept 2025 to the primary completion date, 31 Jan 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- History of acute or chronic infection within the past 3 months
- Active epileptic seizures within the past 6 months
- History of chronic diseases, including abnormal liver function, abnormal renal function, or thyroid dysfunction
Other
- Intake of nutritional supplements (e.g., vitamin A and/or minerals) within the past 1 month
Who the study is looking for
- Clinical Diagnosis Conducted by two experienced physicians based on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition （DSM-V）
- Diagnostic Scale Assessment Performed by professionally certified examiners using ADOS-2
- Genetic Testing Diagnostic criteria via genomic analysis : detection of 15q11-13 duplication containing UBE3A
Age in the registry: 3 years to 7 years · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Department of Pediatrics, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, China. Coordinator of this site? Confirm its status | Hangzhou | China | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.