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Evaluating the Validity of a Genetic Risk Assessment Tool in Identifying Autism Spectrum Disorder

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ClinicalTrials.gov Identifier: NCT01452061
Recruitment Status : Completed
First Posted : October 14, 2011
Last Update Posted : January 29, 2014
Sponsor:
Collaborator:
IntegraGen SA
Information provided by (Responsible Party):
Thomas W. Frazier, Ph.D, The Cleveland Clinic

Brief Summary:

There are three purposes to this study. The first purpose is to evaluate the value of a genetic test in determining risk for autism spectrum disorder. Processing for genetic samples will be completed at the Cleveland Clinic using research equipment provided by IntegraGen. The second purpose is to identify genetic changes that may be associated with autism spectrum disorder or attention deficit/hyperactivity disorder. The third purpose is to examine whether genetic differences and changes may predict which individuals benefit from medicine used to treat attention problems or other psychiatric difficulties.

Between 600-800 people are expected to participate in this study - approximately 300 individuals with an autism spectrum disorder, 75 individuals with attention deficit/hyperactivity disorder or another developmental or psychiatric disorder, 100 healthy siblings, and 125 unrelated individuals without a developmental or psychiatric disorder.

Study procedures will vary based upon the specific group participants are suspected to fall into (autism, attention deficit/hyperactivity disorder, psychiatric concerns/developmental delay, healthy sibling, or unrelated healthy control).

  • All individuals will be asked to participate in a cheek swab (gently swabbing the inside of your cheek) to obtain cells used for genetic testing. Genetic material will be stored with identifiers such as numbers, letters or codes.
  • Parents or caregivers will be asked to complete questionnaires that examine medical and family history as well as current symptoms and quality of life for the participant.
  • Participants may undergo speech and language testing. This involves answering questions, looking at pictures or identifying items.
  • Information recorded in participant medical records will be reviewed and collected for this study.

Condition or disease
Autism Spectrum Disorder Attention Deficit/Hyperactivity Disorder Developmental Delay

Study Type : Observational
Actual Enrollment : 456 participants
Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Understanding Genetic Differences Associated With Autism Spectrum and Attention Deficit/Hyperactivity Disorder
Study Start Date : January 2012
Actual Primary Completion Date : December 2013
Actual Study Completion Date : December 2013

Resource links provided by the National Library of Medicine


Group/Cohort
ASD
Participants with autism spectrum disorder.
ADHD/DD
Participants with attention deficit/hyperactivity disorder, developmental delay or psychiatric disorder.
Siblings
Siblings without a developmental or psychiatric disorder.
Control
Unrelated individuals without a developmental or psychiatric disorder.



Primary Outcome Measures :
  1. Autism Spectrum Disorder clinical diagnosis [ Time Frame: March 2014 ]

Biospecimen Retention:   Samples With DNA
Genetic material via a cheek swab will be collected.


Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 12 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
About 600 people will take part in this study - 300 individuals with an autism spectrum disorder, 75 individuals with attention deficit/hyperactivity disorder or another developmental or psychiatric disorder, 100 healthy siblings, and 125 unrelated individuals without a developmental or psychiatric disorder.
Criteria

Inclusion Criteria:

  • Diagnosis of Autistic Disorder, Pervasive Developmental Disorder, or Asperger's Disorder or have a clinical diagnosis of another developmental or psychiatric disorder (developmental/psychiatric controls), or have no specific developmental or psychiatric diagnosis (healthy controls).
  • Age 1 to 12.

Exclusion Criteria:

  • For individuals with ASD and developmental concern controls, presence of a known or strongly suspected genetic disorder based on all available clinical data.
  • Age less than 1 or greater than 12.
  • Individuals for whom DNA is not available for analysis.
  • Individuals for whom it is anticipated that they will not be available for follow-up at the Cleveland Clinic during the study period.
  • Any medical diagnoses that might preclude participation in a low risk, non-interventional research study and any participant who at the discretion of the clinical investigator is not medically able to participate in the study (e.g., unable to comply with cheek swab or other procedure or has serious medical condition which precludes participation).

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): NCT01452061


Locations
United States, Ohio
Cleveland Clinic Center for Autism
Cleveland, Ohio, United States, 44104
Sponsors and Collaborators
Thomas W. Frazier, Ph.D
IntegraGen SA
Investigators
Principal Investigator: Thomas W Frazier, Ph.D. The Cleveland Clinic
Principal Investigator: Charis Eng, M.D., Ph.D. The Cleveland Clinic

Additional Information:
Responsible Party: Thomas W. Frazier, Ph.D, Center for Autism Research Director, The Cleveland Clinic
ClinicalTrials.gov Identifier: NCT01452061     History of Changes
Other Study ID Numbers: CCF 11-949
First Posted: October 14, 2011    Key Record Dates
Last Update Posted: January 29, 2014
Last Verified: January 2014

Keywords provided by Thomas W. Frazier, Ph.D, The Cleveland Clinic:
Autism Spectrum Disorder
Attention Deficit/Hyperactivity Disorder
Developmental Delay

Additional relevant MeSH terms:
Disease
Autistic Disorder
Attention Deficit Disorder with Hyperactivity
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders
Attention Deficit and Disruptive Behavior Disorders
Nervous System Diseases
Hyperkinesis
Pathologic Processes
Dyskinesias
Neurologic Manifestations
Signs and Symptoms