Phenotypic and Genetic Factors in Autism Spectrum Disorders

Active, not recruiting

• Conditions: Autism Spectrum Disorders

• Registration Number: NCT00910559
• Lead Sponsor: Boston Children's Hospital

Brief Summary

The purpose of the study is to collect phenotypic (observable characteristics) and genetic information about individuals with Autism Spectrum Disorders (ASDs) and their families.

Detailed Description

Participation in this research study involves two research visits, at least one of which is at Children's Hospital Boston. The first visit lasts about 4-6 hours. On this visit, the child will work with a research assistant on a few different cognitive assessments while one or both parents answer interview questionnaires about the child's development, along with other family history information. The second visit at the hospital lasts about 2 and a half hours and involves medical history and family history questionnaires, as well as height, weight, and head circumference measurements and a blood draw from each family member. In addition, digital photographs will be taken of each family member and a 3-D picture of the child's face will be taken. Shortly after the visits, participants will receive a research report of our observations. These results include cognitive, behavioral, developmental, and social findings. The total time commitment for the study is 6 to 8 hours.

Study Timeline

• Study Start: 2008-07
• Study First Submitted: 2009-05-29
• Study First Submitted QC: 2009-05-29
• Study First Posted: 2009-06-01
• Status Verified: 2024-02
• Last Update Submitted: 2024-02-05
• Last Update Posted: 2024-02-07
• Primary Completion: 2027-01
• Study Completion: 2027-02

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 1500

Inclusion Criteria

• Diagnosis of autism spectrum disorder or suspected diagnosis based on clinical genetic test results (e.g., variant diagnosed via chromosomal microarray)
• Age ≥ 18 months

Exclusion Criteria

• Presence of a metabolic disorder
• Acquired developmental disability (e.g., birth asphyxia, trauma-related injury, meningitis, etc.) or cerebral palsy

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
genotype-phenotype correlation	enrollment and sample analysis

Trial Locations

Locations (1)

Children's Hospital Boston; 🇺🇸 Boston, Massachusetts, United States