A Clinical Study Evaluating the Efficacy and Safety of Retinoic Acid in Patients With 15q11-q13 Duplication Syndrome
Status:
Recruiting
Trial end date:
2024-06-01
Target enrollment:
Participant gender:
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.
Phase:
Early Phase 1
Details
Lead Sponsor:
Second Affiliated Hospital, School of Medicine, Zhejiang University