Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu

Genetics, Brain Structure and Thinking Skills in Autism

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.
 
ClinicalTrials.gov Identifier: NCT01451983
Recruitment Status : Completed
First Posted : October 14, 2011
Results First Posted : January 14, 2015
Last Update Posted : January 14, 2015
Sponsor:
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

Tracking Information
First Submitted Date October 11, 2011
First Posted Date October 14, 2011
Results First Submitted Date December 12, 2014
Results First Posted Date January 14, 2015
Last Update Posted Date January 14, 2015
Study Start Date May 2010
Actual Primary Completion Date August 2014   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 12, 2013)
Total Brain Volume [ Time Frame: Baseline ]
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Genetics, Brain Structure and Thinking Skills in Autism
Official Title Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)
Brief Summary 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.
Detailed Description Not Provided
Study Type Observational
Study Design Observational Model: Case Control
Time Perspective: Cross-Sectional
Target Follow-Up Duration Not Provided
Biospecimen 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.
Sampling Method Non-Probability Sample
Study Population 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.
Condition Autism Spectrum Disorders
Intervention Not Provided
Study Groups/Cohorts
  • 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.
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: November 24, 2014)
138
Original Estimated Enrollment
 (submitted: October 13, 2011)
160
Actual Study Completion Date August 2014
Actual Primary Completion Date August 2014   (Final data collection date for primary outcome measure)
Eligibility Criteria

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.
Sex/Gender
Sexes Eligible for Study: All
Ages 2 Years to 50 Years   (Child, Adult)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT01451983
Other Study ID Numbers CCF 09-624
UL1RR024989 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Thomas W. Frazier, Ph.D, The Cleveland Clinic
Study Sponsor The Cleveland Clinic
Collaborators
  • National Institutes of Health (NIH)
  • National Center for Research Resources (NCRR)
Investigators
Principal Investigator: Thomas W Frazier, Ph.D. The Cleveland Clinic
Principal Investigator: Charis Eng, M.D., Ph.D. The Cleveland Clinic
PRS Account The Cleveland Clinic
Verification Date January 2015