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A Clinical Study Evaluating the Efficacy and Safety of Retinoic Acid in Patients With 15q11-q13 Duplication Syndrome

NCT05281965 · Status: UNKNOWN · Phase: EARLY_PHASE1 · Type: INTERVENTIONAL · Enrollment: 20

Last updated 2022-03-16

No results posted yet for this study

Summary

Autism Spectrum Disorders (ASD), with its core symptoms of communication and repetitive behaviors, is a serious neurodevelopmental disorder common in childhood and affects about 1% of children. So far, autism remains a clinical dilemma with no effective therapy.

The most common chromsomal ability among ASD patients is 15q11-13q duplication syndrome(dup15q syndrome).Clinical phenotypes of dup15q syndrome include autism, mental retardation, epilepsy (usually refractory epilepsy, often manifested as infantile spasm), congenital heart disease, mild facial abnormalities, etc.

UBE3A is one of the most important genes in the 15q11-q13 region.Biochemistry and molecular biology of the Chinese Academy of Sciences Hu Ronggui group found a new kind of autism in mechanisms and potential therapeutic targets - describe the ubiquitin ligase UBE3A protein and retinoic acid.Previous studies have shown that the basis of the relevant treatment measures can effectively relieve the mouse model of autism characteristics. Therefore, retinoic acid supplementation in the treatment of dup15q syndrome is a potential therapeutic target.

Conditions

  • Autism
  • Treatment Adherence
  • Retinoic Acid
  • Dup15Q Syndrome

Interventions

DRUG

Retinoic acid

Retinoic acid oral

Sponsors & Collaborators

  • Second Affiliated Hospital, School of Medicine, Zhejiang University

    lead OTHER

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
SINGLE
Model
CROSSOVER

Eligibility

Min Age
6 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-04-01
Primary Completion
2023-06-01
Completion
2024-06-01

Countries

  • China

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05281965 on ClinicalTrials.gov