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

NCT ID: NCT05281965

Last Updated: 2022-03-16

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: EARLY_PHASE1
• Total Enrollment: 20 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-04-01
• Study Completion Date: 2024-06-01

Brief 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

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: CROSSOVER
• Primary Study Purpose: TREATMENT
• Blinding Strategy: SINGLE

Study Groups

Experimental group

Group Type: EXPERIMENTAL

Retinoic acid

Intervention Type: DRUG

Retinoic acid oral

Placebo group

Group Type: PLACEBO_COMPARATOR

Retinoic acid

Intervention Type: DRUG

Retinoic acid oral

Interventions

Retinoic acid

Retinoic acid oral

Intervention Type: DRUG

Eligibility Criteria

Inclusion Criteria

1. Between 6 and 18 years old

2. Clinical diagnosis + scale diagnosis of autism (1) Clinical diagnosis: clinical diagnosis was made by 2 experienced doctors according to the medical history provided by the caregivers and the diagnostic criteria of ASD in DSM-V; (2) Scale diagnosis: The diagnostic assessment was conducted by highly qualified practitioners taking the ADOS-2 score, Restricted Behabior (RRB) and Social Affect (SA) scores. The scores were converted to standardized severity scores (CSS) for three diagnoses of non-spectrum disorders, autism and autism spectrum disorders.

3. Genetics: 15q11-13 duplicates diagnosed by SNP-Array or A-CGH microarray, including UBE3A gene

Exclusion Criteria

1. A history of acute or chronic infection within the last 3 months

2. There are still active seizures within the past 1 year

3. Have taken vitamin and/or mineral supplements within the last 6 months

4. A history of chronic diseases, including abnormal liver function, abnormal kidney function, and abnormal thyroid function;

• Minimum Eligible Age: 6 Years
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Second Affiliated Hospital, School of Medicine, Zhejiang University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

Zhejiang University

Hangzhou, Zhejiang, China

Site Status: RECRUITING

Miao pu

Hangzhou, , China

Site Status: RECRUITING

Countries

China

Central Contacts

Jianhua Feng, Master

Role: CONTACT

hzhz87083886@zju.edu.cn

+8613588172577

Facility Contacts

Jianhua Feng

Role: primary

380028654@qq.com

89713749 ext. 0571

pu Miao

Role: primary

2517105@zju.edu.cn

+8618267179356

Other Identifiers

2021-0438

Identifier Type: -

Identifier Source: org_study_id