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Genetic Contributions to Autism Spectrum Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01160783
Recruitment Status : Active, not recruiting
First Posted : July 12, 2010
Last Update Posted : August 1, 2019
Information provided by (Responsible Party):
Ingrid Holm, Boston Children’s Hospital

Brief Summary:
This study is working towards gaining a better understanding of the genetic and environmental factors involved in autism spectrum disorders (ASD), which includes autism, pervasive developmental disorder (PDD), and Asperger's syndrome. The investigators hope that information gained from this study will lead to new ways of diagnosing and treating ASDs.

Condition or disease
Autism Spectrum Disorder Autism Asperger's Syndrome Pervasive Developmental Disorder

Detailed Description:
Participation generally takes less than 2 hours to complete and travel to Children's Hospital Boston is not required. Participants are asked some questions about their medical and family history. The investigators also request permission to review medical records related to the ASD diagnosis. Finally, the investigators obtain a small blood or saliva sample in order to search for genes that may be important in understanding ASD. The investigators can arrange for the blood draw through a participant's physician or a clinical laboratory and saliva samples can be obtained through the mail. The study questions are answered via telephone or mailed questionnaires. There is no cost to participate.

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Study Type : Observational
Actual Enrollment : 240 participants
Observational Model: Family-Based
Time Perspective: Cross-Sectional
Official Title: Genetic Contributions to Autism Spectrum Disorders
Study Start Date : April 2007
Estimated Primary Completion Date : December 2022
Estimated Study Completion Date : February 2024

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Gene expression levels [ Time Frame: At sample collection ]

Biospecimen Retention:   Samples With DNA
Whole blood, DNA and RNA and/or Saliva, DNA

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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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
Children with a diagnosis of an Autism Spectrum Disorder (autism, pervasive developmental disorder (PDD), or Asperger's syndrome) and their parents and/or siblings

Inclusion Criteria:

  • Clinical diagnosis of an Autism Spectrum Disorder (autism, pervasive developmental disorder (PDD), or Asperger's syndrome)
  • Age > 18 months

Exclusion Criteria:

  • Do not have the diagnosis of an ASD
  • Participation in the "Phenotypic and Genetic Risk Factors in ASD" study at Boston Children's Hospital.

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 identifier (NCT number): NCT01160783

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United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Sponsors and Collaborators
Boston Children’s Hospital
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Principal Investigator: Ingrid A Holm, MD, MPH Boston Children’s Hospital

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Responsible Party: Ingrid Holm, Associate Physician in Medicine;Associate Professor of Pediatrics, Harvard Medical School, Boston Children’s Hospital Identifier: NCT01160783    
Other Study ID Numbers: 07-04-0136
First Posted: July 12, 2010    Key Record Dates
Last Update Posted: August 1, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Keywords provided by Ingrid Holm, Boston Children’s Hospital:
Asperger's Syndrome
Asperger Syndrome
Autistic Disorder
Autism Spectrum Disorder
Pervasive Developmental Disorders
Pervasive Developmental Disorder-Not Otherwise Specified
Child Development Disorders, Pervasive
Additional relevant MeSH terms:
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Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Developmental Disabilities
Asperger Syndrome
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders