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

This study has been completed.
Sponsor:
Collaborator:
IntegraGen SA
Information provided by (Responsible Party):
Thomas W. Frazier, Ph.D, Cleveland Clinic Foundation
ClinicalTrials.gov Identifier:
NCT01452061
First received: October 11, 2011
Last updated: January 27, 2014
Last verified: January 2014
  Purpose

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
Autism Spectrum Disorder
Attention Deficit/Hyperactivity Disorder
Developmental Delay

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Understanding Genetic Differences Associated With Autism Spectrum and Attention Deficit/Hyperactivity Disorder

Resource links provided by NLM:


Further study details as provided by The Cleveland Clinic:

Primary Outcome Measures:
  • Autism Spectrum Disorder clinical diagnosis [ Time Frame: March 2014 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Genetic material via a cheek swab will be collected.


Enrollment: 456
Study Start Date: January 2012
Study Completion Date: December 2013
Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.

  Eligibility

Ages Eligible for Study:   1 Year to 12 Years
Genders Eligible for Study:   Both
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).
  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: 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
  More Information

Additional Information:
No publications provided

Responsible Party: Thomas W. Frazier, Ph.D, Center for Autism Research Director, Cleveland Clinic Foundation
ClinicalTrials.gov Identifier: NCT01452061     History of Changes
Other Study ID Numbers: CCF 11-949
Study First Received: October 11, 2011
Last Updated: January 27, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by The Cleveland Clinic:
Autism Spectrum Disorder
Attention Deficit/Hyperactivity Disorder
Developmental Delay

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

ClinicalTrials.gov processed this record on October 22, 2014