Clinical trial NCT01451983: Genetics, Brain Structure and Thinking Skills in Autism
Official title: Genetic, Biochemical, Behavioral and Neuroimaging Phenotypes of Autism Spectrum Disorders (ASDs)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Autism Spectrum Disorders
Keywords: Autism
PTEN
macrocephaly
Lead sponsor: The Cleveland Clinic
Sponsor class: OTHER
Collaborators: name: National Institutes of Health (NIH)
name: National Center for Research Resources (NCRR)
First posted: 2011-10-14
Enrollment: 138
Sex: ALL
Minimum age (years): 2
Maximum age (years): 50
Standard ages: CHILD
ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
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.

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.


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.

Primary outcomes:
measure: Total Brain Volume
timeFrame: Baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Cleveland
country: United States
facility: Cleveland Clinic Center for Autism
state: Ohio
Study officials:
affiliation: The Cleveland Clinic
name: Thomas W Frazier, Ph.D.
role: PRINCIPAL_INVESTIGATOR
affiliation: The Cleveland Clinic
name: Charis Eng, M.D., Ph.D.
role: PRINCIPAL_INVESTIGATOR
References: