NCT05281965

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

• Status: Unknown
• Phase: EARLY_Phase 1
• Study type: Interventional
• Enrollment: 20 (estimated)
• Sponsor: Second Affiliated Hospital, School of Medicine, Zhejiang University · Academic / Other
• Sex: All
• Age: 6 Years – 18 Years
• Healthy volunteers: Not accepted

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

Type	Name	Description
DRUG	Retinoic acid	Retinoic acid oral

Timeline

• Start date: 2022-04-01
• Primary completion: 2023-06-01
• Completion: 2024-06-01
• First posted: 2022-03-16
• Last updated: 2022-03-16

Locations

2 sites across 1 country: China