Genetics, Brain Structure and Thinking Skills in Autism
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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) |
- 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.
|
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ASD no PTEN no macrocephaly
Individuals with autism spectrum disorder who do not have a PTEN mutation without a large head circumference.
|
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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 |
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.
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| Contact: Becky Embacher, M.Ed. | 216-448-6493 | embachr@ccf.org |
| 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. | |
| 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: | February 12, 2013 |
| 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 May 19, 2013