Phenotypic and Genetic Factors in Autism Spectrum Disorders

February 5, 2024 updated by: Christopher Walsh, Boston Children's Hospital
The purpose of the study is to collect phenotypic (observable characteristics) and genetic information about individuals with Autism Spectrum Disorders (ASDs) and their families.

Study Overview

Status

Active, not recruiting

Conditions

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 Type

Observational

Enrollment (Estimated)

1500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Children's Hospital Boston

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Individuals with ASDs and their parents and/or siblings

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
genotype-phenotype correlation
Time Frame: enrollment and sample analysis
enrollment and sample analysis

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Boston Children's Hospital

Collaborators

National Institute of Mental Health (NIMH)

Investigators

  • Principal Investigator: Christopher Walsh, MD, PhD, Boston Children's Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2008

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

February 1, 2027

Study Registration Dates

First Submitted

May 29, 2009

First Submitted That Met QC Criteria

May 29, 2009

First Posted (Estimated)

June 1, 2009

Study Record Updates

Last Update Posted (Estimated)

February 7, 2024

Last Update Submitted That Met QC Criteria

February 5, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 04-05-075
  • R01MH085143 (U.S. NIH Grant/Contract)
  • R01MH083565 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Data is available through National Database for Autism Research (NDAR) and database of Genotypes and Phenotypes (dbGaP).

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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