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Tests retinoic acid in children with autism linked to chromosome 15 duplication

Tests all-trans retinoic acid in children with autism and 15q11-13 duplication syndrome.

Key facts

Who runs it
Second Affiliated Hospital, Zhejiang University, School of Medicine
Where
Hangzhou, ChinaSee the site
Trial code
Registry title
Investigating the Therapeutic Efficacy of All-trans Retinoic Acid in Autism Spectrum Disorder Patients With 15q11-13 Duplication Syndrome
Status
Not yet recruiting
Phase
Phase 2
People taking part
90 people, planned
Started
1 Sept 2025
Expected to end
Jan 2027
Type of study
Interventional
Treatments tested
  • ATRA
Record updated
23 July 2025

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for young children with autism who have a 15q11-13 duplication that includes the UBE3A gene. It tests all-trans retinoic acid (ATRA).

Age
3 to 7 years
Sex
All sexes can join.
Disease stage
Autism spectrum disorder diagnosed by two experienced physicians (DSM-V) and assessed with the ADOS-2 scale.
Earlier treatment
No nutritional supplements (for example vitamin A or minerals) in the past 1 month.
Biomarker or test result
Genetic test shows a 15q11-13 duplication that contains UBE3A.

Main reasons for not taking part

  • Acute or chronic infection in the past 3 months
  • Active epileptic seizures in the past 6 months
  • Nutritional supplements (for example vitamin A or minerals) in the past 1 month
  • Chronic disease such as abnormal liver function, abnormal kidney function or thyroid dysfunction

The registry criteria, word for word

Show all 7 criteriaShow less

Who can take part

  • 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

Who cannot take part

  • 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
  • Intake of nutritional supplements (e.g., vitamin A and/or minerals) within the past 1 month

Check if you might fit

Answer for yourself. This is not a decision: only the study team can say whether you can take part.

  • Are you between 3 and 7 years old?

Where in China

  • Department of Pediatrics, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009, China.Hangzhou, ChinaContact: Jianhua FengNo longer taking part

About the trial

What the trial wants to find out

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.

Read full original descriptionShow less

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.

The group in the trial

  • Group experimentalTreatment being tested

    Age: 3-7 years old (stratified into Group 1: 3-5 years; Group 2: 5-7 years).

    Treatment: ATRA

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Investigating the Therapeutic Efficacy of All-trans Retinoic Acid in Autism Spectrum Disorder Patients With 15q11-13 Duplication Syndrome
Plain-language title
Tests retinoic acid in children with autism linked to chromosome 15 duplicationGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 12 November 2026.
Fit questions
Built from NCT07079696, who can take part
Record updated
23 July 2025