Investigating the Therapeutic Efficacy of All-trans Retinoic Acid in Autism Spectrum Disorder Patients With 15q11-13 Duplication Syndrome

Launched by SECOND AFFILIATED HOSPITAL, SCHOOL OF MEDICINE, ZHEJIANG UNIVERSITY · Jul 14, 2025

Keywords

ClinConnect Summary

This clinical trial is studying whether a treatment called all-trans retinoic acid (ATRA) can help children with a specific form of autism linked to a genetic condition called Dup15q syndrome. This syndrome happens when a small part of a chromosome, called 15q11-13, is duplicated, especially a gene called UBE3A. This duplication can affect brain development and cause autism symptoms like difficulty with social interactions and repetitive behaviors. Research in animals suggests that ATRA might improve these autism-like behaviors, so this study will test if it can help children with Dup15q-related autism.

Children who may join the study need to have a confirmed diagnosis of autism based on standard guidelines and tests, and genetic testing must show they have the 15q11-13 duplication including the UBE3A gene. Participants should be free from recent infections, active seizures, and certain health problems like liver or kidney issues. During the trial, children will receive ATRA treatment, and researchers will monitor changes in their autism symptoms using established assessment tools. The study is not yet recruiting, but it aims to find a new treatment option for this specific group of children with autism.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • 1. Clinical Diagnosis Conducted by two experienced physicians based on Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition （DSM-V）
• • 2. Diagnostic Scale Assessment Performed by professionally certified examiners using ADOS-2
• • 3. Genetic Testing Diagnostic criteria via genomic analysis : detection of 15q11-13 duplication containing UBE3A
• Exclusion Criteria:
• • 1. History of acute or chronic infection within the past 3 months
• • 2. Active epileptic seizures within the past 6 months
• • 3. Intake of nutritional supplements (e.g., vitamin A and/or minerals) within the past 1 month
• • 4. History of chronic diseases, including abnormal liver function, abnormal renal function, or thyroid dysfunction