We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

Genetics, Brain Structure and Thinking Skills in Autism

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01451983
First Posted: October 14, 2011
Last Update Posted: January 14, 2015
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.
Collaborators:
National Institutes of Health (NIH)
National Center for Research Resources (NCRR)
Information provided by (Responsible Party):
Thomas W. Frazier, Ph.D, The Cleveland Clinic
October 11, 2011
October 14, 2011
December 12, 2014
January 14, 2015
January 14, 2015
May 2010
August 2014   (Final data collection date for primary outcome measure)
Total Brain Volume [ Time Frame: Baseline ]
Not Provided
Complete list of historical versions of study NCT01451983 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Genetics, Brain Structure and Thinking Skills in Autism
Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)
The purpose of this research is to better understand the genetic, biochemical, cognitive and behavioral symptom abnormalities that contribute to autism spectrum disorders. The investigators anticipate recruiting at least 100 participants with autism spectrum disorder and large head size, at least 100 participants with autism spectrum disorder without large head size and at least 40 healthy siblings. Biological parents are expected to be recruited only as genetic changes are identified in individuals with autism spectrum disorders to better understand the nature of these genetic changes. Participants are asked to complete cognitive testing, a blood draw, urine collection and measurement of his/her height, weight and head circumference. Parents or caregivers may be asked to complete a diagnostic evaluation and will complete questionnaires that examine the participant's medical and family history as well as his/her current symptoms, functioning, and quality of life. A brief report simply listing and giving a basic description of any behavioral diagnostic information, autism symptoms, adaptive functioning, and a listing of results from cognitive testing will be provided as part of this study.
Not Provided
Observational
Observational Model: Case Control
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
Description:
About 6 tubes of blood or up to 50 ml (3-4 tablespoons) and 30 mL of urine will be collected.
Non-Probability Sample
We anticipate recruiting 80 participants with autism spectrum disorder and large head size, 80 participants with autism spectrum disorder without large head size and 40 healthy siblings. Biological parents are expected to be recruited only as genetic changes are identified in individuals with autism spectrum disorders to better understand the nature of these genetic changes.
Autism Spectrum Disorders
Not Provided
  • ASD with PTEN
    Individuals with autism spectrum disorder who are also found to have a PTEN mutation.
  • ASD no PTEN macrocephaly
    Individuals with autism spectrum disorder who do not have a PTEN mutation with a large head circumference.
  • ASD no PTEN no macrocephaly
    Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
  • Siblings
    Siblings of individuals with autism spectrum disorders.
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
138
August 2014
August 2014   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Clinical diagnosis of autism
  • Consent from parents or guardians or an adult with or suspected of having an autism spectrum disorder that does not require a legal guardian or an adult who is the healthy sibling of an individual with an autism spectrum disorder.
  • Youth ages 2-17 and adults ages 18-50. Youths and adults who are able (some young or severely impaired participants may not be able to provide assent) will be asked to provide assent.
  • Families with multiple children who meet the above inclusion criteria will be permitted to have as many children participate as they wish.
  • Youth ages 2-17 and adults ages 18-50 who do not have an autism spectrum disorder or are not suspected of having an autism spectrum disorder and who have a sibling with an autism spectrum disorder who has participated in the present study.

Exclusion Criteria:

  • Clinically significant medical disease that would prohibit participation in the study procedures.
  • Children younger than 2 years old and adults older than 50 years old.
Sexes Eligible for Study: All
2 Years to 50 Years   (Child, Adult)
Yes
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT01451983
CCF 09-624
UL1RR024989 ( U.S. NIH Grant/Contract )
Yes
Not Provided
Not Provided
Thomas W. Frazier, Ph.D, The Cleveland Clinic
The Cleveland Clinic
  • National Institutes of Health (NIH)
  • National Center for Research Resources (NCRR)
Principal Investigator: Thomas W Frazier, Ph.D. The Cleveland Clinic
Principal Investigator: Charis Eng, M.D., Ph.D. The Cleveland Clinic
The Cleveland Clinic
January 2015