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

NCT05281965 | Unknown Early Phase 1

• 1 other identifier: 2021-0438
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 2

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

Outcome Measures

Primary Outcomes (1)

• ADORS-2

  The primary outcome measure was changes in the social core symptom of ASD assessed using the social reciprocity score of Autism Diagnostic Observation Schedule (ADOS)39 module 4 (range: 0-14, higher values represent worse outcomes) between the baseline and end point of each administration period.

  3 months，6 months，9 months，12 months

Study Arms (2)

Experimental group

EXPERIMENTAL

Drug: Retinoic acid

Placebo group

PLACEBO COMPARATOR

Drug: Retinoic acid

Interventions

Retinoic acid DRUG

Retinoic acid oral

Experimental group; Placebo group

Eligibility Criteria

• Age: 6 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Between 6 and 18 years old
• 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.
• Genetics: 15q11-13 duplicates diagnosed by SNP-Array or A-CGH microarray, including UBE3A gene

You may not qualify if:

• A history of acute or chronic infection within the last 3 months
• There are still active seizures within the past 1 year
• Have taken vitamin and/or mineral supplements within the last 6 months
• A history of chronic diseases, including abnormal liver function, abnormal kidney function, and abnormal thyroid function;

Sponsors & Collaborators

• Second Affiliated Hospital, School of Medicine, Zhejiang University: lead

Study Sites (2)

Zhejiang University

Hangzhou, Zhejiang, 310000, China

RECRUITING

Miao pu

Hangzhou, 310009, China

RECRUITING

MeSH Terms

Conditions

Autistic Disorder; Treatment Adherence and Compliance

Interventions

Tretinoin

Condition Hierarchy (Ancestors)

Autism Spectrum Disorder; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Health Behavior; Behavior

Intervention Hierarchy (Ancestors)

Vitamin A; Retinoids; Carotenoids; Polyenes; Alkenes; Hydrocarbons, Acyclic; Hydrocarbons; Organic Chemicals; Cyclohexenes; Cyclohexanes; Cycloparaffins; Hydrocarbons, Alicyclic; Hydrocarbons, Cyclic; Terpenes; Diterpenes; Pigments, Biological; Biological Factors

Central Study Contacts

Jianhua Feng, Master

CONTACT

+8613588172577; hzhz87083886@zju.edu.cn

Study Design

• Study Type: interventional
• Phase: early phase 1
• Allocation: RANDOMIZED
• Masking: SINGLE
• Who Masked: PARTICIPANT
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 7, 2022
• First Posted: March 16, 2022
• Study Start: April 1, 2022
• Primary Completion: June 1, 2023
• Study Completion: June 1, 2024
• Last Updated: March 16, 2022

Record last verified: 2022-03

Locations

CN (2)