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Not yet recruiting NCT07079696

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

Phase II Interventional Dup15q Syndrome Autism Spectrum Disorder Therapy All-trans Retinoic Acid

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: ATRA.
Who it may be relevant to
Registry conditions: Dup15q Syndrome, Autism Spectrum Disorder, Therapy, All-trans Retinoic Acid. Basic parameters: 3 years — 7 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
China
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Overview

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.

Interventions

  • Drug ATRA
    Treatment Phase (Duration: 18 months) Intervention: ATRA oral administration using a stepwise titration protocol (detailed below). Patients may discontinue treatment if intolerable adverse events occur; post-withdrawal symptom exacerbation is monitored. \*Titration Protocol\* Treatment Cycle (C): 3 weeks per cycle. Dose escalation follows: Cycle Dosage Duration C1.1 15 mg/m²/day 2 weeks on / 1 week off C1.2 20 mg/m²/day 2 weeks on / 1 week off C1.3 25 mg/m²/day 2 weeks on / 1 week off Blinded

Primary outcome measures

  • ADOS-2 SA score [Time frame: 6、12、18months after ATRA administration]
Secondary outcome measures (1)
  • development scale score [Time frame: 6、12、18months after ATRA administration]

Eligibility criteria

Inclusion criteria

  • 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

Exclusion criteria

  • History of acute or chronic infection within the past 3 months
  • Active epileptic seizures within the past 6 months
  • Intake of nutritional supplements (e.g., vitamin A and/or minerals) within the past 1 month
  • History of chronic diseases, including abnormal liver function, abnormal renal function, or thyroid dysfunction

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Treatment

Study locations

China · 1 center
  • Department of Pediatrics, Second Affiliated Hospital, School of Medicine, Zhejiang Univers — Hangzhou

Identifiers

NCT: NCT07079696 · 2025-0465

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗