A Family Study of Copy Number Variations in Patients With Autism Spectrum Disorder

NCT02228876 | Completed DMC

• 1 other identifier: 201403019RINA
• Study Type: observational
• Target: 360
• Locations: 1 country
• Sites: 1

Brief Summary

This 3-year proposal is a family-based cohort study to establish a representative sample of probands with ASD and their parents with well-characterized environmental, clinical phenotypes, endophenotypes, and genetic data to conduct CNV experiments and the genotype-phenotype correlations. Based on our previous findings, probands with CNVs larger than 500kb has been identified and their families will be newly recruit in the present project to reveal the origin of the CNVs and reveal the clinical feature of the families. The significant findings in specific genes will conduct pathway analysis to reveal the etiology in ASD, providing further understanding in the disease.

Conditions

Autism Spectrum Disorder

Outcome Measures

Primary Outcomes (1)

• Diagnosis of autism

  Using the Autism Diagnostic Interview-Revised (ADI-R) to assess the developmental and behavioral aspects of autism, including reciprocal social interaction, communication, and repetitive behaviors and stereotyped patterns

  1 day

Secondary Outcomes (1)

• Diagnosis of psychiatric disorders

  1 day

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Based on our preliminary CNV results of 339 probands, approximately 120 probands had been identified to have CNVs larger than 500kb. In the present project, the parents and siblings of the probands with CNVs larger than 500kb will be recruited (estimated sample size, parents = 200, siblings = 40) and reassess the \~120 probands.

You may qualify if:

• subjects have a clinical diagnosis of autistic disorder or Asperger disorder defined by the DSM-IV and ICD-10 criteria and ASD defined by the DSM-5, which was made by board-certificated child psychiatrists at the first visit and following visits;
• their ages range from 3 to 30;
• subjects have at least one biological parent;
• both parents are Han Chinese; and
• subjects and their biological parents consent to participate in this study for complete phenotype assessments and blood withdraw for genetic study.

You may not qualify if:

• if they currently meet criteria or have a history of the following condition as defined by DSM-IV: Schizophrenia, Schizoaffective Disorder, or Organic Psychosis.

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

National Taiwan Univeristy Hospital

Taipei, Taiwan

Location

Biospecimen

Retention: SAMPLES WITH DNA

The subjects will receive blood withdrawal. The blood sample will be used for establishing lymphoblastoid cell lines, which will be used for molecular genetic experiments.

MeSH Terms

Conditions

Autism Spectrum Disorder

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Susan Shur-Fen Gau, MD, PhD

  National Taiwan University Hospital & College of Medicine

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 18, 2014
• First Posted: August 29, 2014
• Study Start: August 1, 2014
• Primary Completion: July 31, 2017
• Study Completion: July 31, 2017
• Last Updated: September 5, 2021

Record last verified: 2021-09

Locations

TW (1)