A Phase 2 interventional study of ATRA in Dup15q Syndrome, Autism Spectrum Disorder and Therapy, sponsored by Second Affiliated Hospital, School of Medicine, Zhejiang University. Not yet recruiting at 1 site in China. Open to participants aged 3 Years to 7 Years. Per ClinicalTrials.gov, last updated 2025-07-23.
Sponsored by Second Affiliated Hospital, School of Medicine, Zhejiang University · Phase 2, Interventional, and Treatment
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.
1,727 studies on the registry are indexed under Autism Spectrum Disorder; 504 are open to participants now.
This study's planned enrollment of 90 is above the median of 52 across 1,371 interventional studies indexed under Autism Spectrum Disorder.
Browse Autism Spectrum Disorder studies →Second Affiliated Hospital, School of Medicine, Zhejiang University is the lead sponsor of 1,058 studies on the registry; 511 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Exclusion Criteria:
Age: 3-7 years old (stratified into Group 1: 3-5 years; Group 2: 5-7 years).
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 Assessments: primary endpoints: ADOS-2 SA score, CARS, SRS, ATEC, Gesell, and Sensory Motor (SM) scales. Biomarker/Diagnostic tests: blood tests (CBC, liver/kidney function, vitamin panels, ATRA levels, hepatitis markers), neuroimaging (cranial fMRI), neurophysiology (EEG, audiometry), skeletal imaging (limb long-bone radiographs, growth monitoring), and biobanking: 1 blood tube for proteomics (baseline, 6/12/18 months). Repeat all assessments at 6, 12, and 18 months after ATRA treatment.
ADOS-2 SA score
Time frame: 6、12、18months after ATRA administration
development scale score
Time frame: 6、12、18months after ATRA administration
Plan to share: Undecided
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This study is not yet recruiting, as verified in Jun 2025. You cannot join it, but the record below documents what was studied.
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Second Affiliated Hospital, School of Medicine, Zhejiang University