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Genetics, Brain Structure and Thinking Skills in Autism

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by The Cleveland Clinic
Sponsor:
Collaborators:
Information provided by (Responsible Party):
Thomas W. Frazier, Ph.D, The Cleveland Clinic
ClinicalTrials.gov Identifier:
NCT01451983
First received: October 11, 2011
Last updated: July 22, 2014
Last verified: July 2014
  Purpose

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.


Condition
Autism Spectrum Disorders

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)

Resource links provided by NLM:


Further study details as provided by The Cleveland Clinic:

Primary Outcome Measures:
  • Total Brain Volume [ Time Frame: Baseline ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

About 6 tubes of blood or up to 50 ml (3-4 tablespoons) and 30 mL of urine will be collected.


Estimated Enrollment: 160
Study Start Date: May 2010
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
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.

  Eligibility

Ages Eligible for Study:   2 Years to 50 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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.

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.
  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: NCT01451983

Contacts
Contact: Becky Embacher, M.Ed. 216-448-6493 embachr@ccf.org

Locations
United States, Ohio
Cleveland Clinic Center for Autism Recruiting
Cleveland, Ohio, United States, 44104
Contact: Becky Embacher, M.Ed.    216-448-6493    embachr@ccf.org   
Principal Investigator: Charis Eng, M.D., Ph.D.         
Principal Investigator: Thomas W Frazier, Ph.D.         
Sub-Investigator: David Serre, Ph.D.         
Sub-Investigator: Stephen Rao, Ph.D.         
Sub-Investigator: Mark Lowe, Ph.D.         
Sub-Investigator: Micheal Phillips, M.D.         
Sub-Investigator: Judith Hobert, Ph.D.         
Sub-Investigator: Katherine Koenig, Ph.D.         
Sub-Investigator: Amanda Tilot         
Sub-Investigator: Blessy Mathew         
Sub-Investigator: Erik Beall, Ph.D.         
Sponsors and Collaborators
The Cleveland Clinic
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, Autism Research Program Director, The Cleveland Clinic
ClinicalTrials.gov Identifier: NCT01451983     History of Changes
Other Study ID Numbers: CCF 09-624, UL1RR024989
Study First Received: October 11, 2011
Last Updated: July 22, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by The Cleveland Clinic:
Autism
PTEN
macrocephaly

Additional relevant MeSH terms:
Autistic Disorder
Child Development Disorders, Pervasive
Mental Disorders Diagnosed in Childhood
Mental Disorders

ClinicalTrials.gov processed this record on September 14, 2014