Genetics, Brain Structure and Thinking Skills in Autism

NCT01451983 | Completed Results DMC

• 2 other identifiers: CCF 09-624UL1RR024989
• Study Type: observational
• Target: 138
• Locations: 1 country
• Sites: 1

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.

Conditions

Autism Spectrum Disorders

Keywords

Autism; PTEN; macrocephaly

Outcome Measures

Primary Outcomes (1)

• Total Brain Volume

  Baseline

Study Arms (4)

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 Criteria

• Age: 2 Years - 50 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

• 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.
• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• The Cleveland Clinic: lead
• National Institutes of Health (NIH): collaborator
• National Center for Research Resources (NCRR): collaborator

Study Sites (1)

Cleveland Clinic Center for Autism

Cleveland, Ohio, 44104, United States

Location

Related Links

• Cleveland Clinic Center for Autism Research Website

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.

MeSH Terms

Conditions

Autism Spectrum Disorder; Autistic Disorder; Megalencephaly

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Limitations and Caveats

Modest PTEN-ASD sample size and difficulty in closely matching each PTEN patient to one or more patients from each comparison group; Lack of comprehensively characterized PHTS patients without ASD is also a limitation.

Results Point of Contact

• Title: Thomas W. Frazier, PhD
• Organization: Cleveland Clinic Center for Autism

fraziet2@ccf.org

216-448-6440

Study Officials

• Thomas W Frazier, Ph.D.

  The Cleveland Clinic

  PRINCIPAL INVESTIGATOR

• Charis Eng, M.D., Ph.D.

  The Cleveland Clinic

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Autism Research Program Director

Study Record Dates

• First Submitted: October 11, 2011
• First Posted: October 14, 2011
• Study Start: May 1, 2010
• Primary Completion: August 1, 2014
• Study Completion: August 1, 2014
• Last Updated: January 14, 2015
• Results First Posted: January 14, 2015

Record last verified: 2015-01

Locations

US (1)