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Phenotypic and Genetic Factors in Autism Spectrum Disorders

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ClinicalTrials.gov Identifier: NCT00910559
Recruitment Status : Active, not recruiting
First Posted : June 1, 2009
Last Update Posted : March 8, 2022
National Institute of Mental Health (NIMH)
Information provided by (Responsible Party):
Christopher Walsh, 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.

Condition or disease
Autism Spectrum Disorders

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.

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Study Type : Observational
Estimated Enrollment : 1500 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Phenotypic and Genetic Factors in Autism Spectrum Disorders
Study Start Date : July 2008
Estimated Primary Completion Date : January 2024
Estimated Study Completion Date : February 2024

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. genotype-phenotype correlation [ Time Frame: enrollment and sample analysis ]

Biospecimen Retention:   Samples With DNA
Whole blood

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with ASDs and their parents and/or siblings

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00910559

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United States, Massachusetts
Children's Hospital Boston
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children's Hospital
National Institute of Mental Health (NIMH)
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Principal Investigator: Christopher Walsh, MD, PhD Boston Children's Hospital
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Responsible Party: Christopher Walsh, Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT00910559    
Other Study ID Numbers: 04-05-075
R01MH085143 ( U.S. NIH Grant/Contract )
R01MH083565 ( U.S. NIH Grant/Contract )
First Posted: June 1, 2009    Key Record Dates
Last Update Posted: March 8, 2022
Last Verified: March 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Data is available through National Database for Autism Research (NDAR) and database of Genotypes and Phenotypes (dbGaP).

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Christopher Walsh, Boston Children's Hospital:
Autism Spectrum Disorder
Asperger Syndrome
Pervasive Developmental Disorders- Not Otherwise Specified
Additional relevant MeSH terms:
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Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders