This site became the new ClinicalTrials.gov on June 19th. Learn more.
Show more
ClinicalTrials.gov Menu IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...
ClinicalTrials.gov Menu IMPORTANT: Talk with a trusted healthcare professional before volunteering for a study. Read more...
ClinicalTrials.gov Menu
Give us feedback

Phenotypic and Genetic Factors in Autism Spectrum Disorders

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
National Institute of Mental Health (NIMH)
Information provided by (Responsible Party):
Louis Kunkel, Boston Children's Hospital
ClinicalTrials.gov Identifier:
NCT00910559
First received: May 29, 2009
Last updated: June 1, 2017
Last verified: June 2017
  Purpose
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
Autism Spectrum Disorders

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Phenotypic and Genetic Factors in Autism Spectrum Disorders

Resource links provided by NLM:


Further study details as provided by Louis Kunkel, Boston Children's Hospital:

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

Biospecimen Retention:   Samples With DNA
Whole blood

Estimated Enrollment: 1500
Study Start Date: July 2008
Estimated Study Completion Date: February 2020
Estimated Primary Completion Date: February 2018 (Final data collection date for primary outcome measure)
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.
  Eligibility

Ages Eligible for Study:   18 Months and older   (Child, Adult, Senior)
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
Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00910559

Locations
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)
Investigators
Principal Investigator: Louis Kunkel, PhD Boston Children’s Hospital
  More Information

Responsible Party: Louis Kunkel, Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT00910559     History of Changes
Other Study ID Numbers: 04-05-075
R01MH085143 ( U.S. NIH Grant/Contract )
R01MH083565 ( U.S. NIH Grant/Contract )
Study First Received: May 29, 2009
Last Updated: June 1, 2017
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).

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Louis Kunkel, Boston Children's Hospital:
Autism Spectrum Disorder
Autism
Asperger Syndrome
Pervasive Developmental Disorders- Not Otherwise Specified

Additional relevant MeSH terms:
Disease
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders

ClinicalTrials.gov processed this record on September 21, 2017