- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01059201
Exome Sequencing in Autistic Spectrum Disorder
December 14, 2019 updated by: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis
Background:
- Research into the genetic causes of autism spectrum disorder (ASD) involves studies of the DNA of children with autism. New DNA sequencing technology allows researchers to study specific genes in search of genetic changes that may cause or contribute to ASD. Individuals who donated DNA to the Autism Genetic Resource Exchange may benefit from further study of their DNA samples with more advanced DNA sequencing technology.
- The role of cholesterol in individuals with ASD is currently under investigation. Research has suggested that abnormal cholesterol levels in children with autism may be related to genetic mutations or changes in how cholesterol is regulated in the body.
Objectives:
- To study existing blood samples of children with autism spectrum disorders to evaluate the relationship between genetic traits and cholesterol function.
Eligibility:
- Children with ASD who donated blood samples to the Autism Genetic Resource Exchange.
Design:
- Parents/guardians of minor children with ASD will provide consent for further research to be performed on existing DNA samples in the Autism Genetic Research Exchange databank. Information from this research may be provided to the consenting parents/guardians on a case by case basis, as directed by the researchers.
Study Overview
Status
Completed
Conditions
Detailed Description
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by functional deficits in three domains: social interaction, communication, and stereotypic behavior.
Prevalence has been estimated to be approximately 1/166 children and the public health impact is significant.
ASD clearly has a genetic component; however, identification of specific etiologies has been complicated by the heterogeneous nature of ASD.
One approach to minimize this problem is to define endophenotypes that can subcategorize ASD patients.
Based on our work with Smith-Lemli-Opitz syndrome, we have investigated whether alterations in cholesterol homeostasis may contribute to ASD.
We found in 200 ASD subjects that 23% of subjects had serum cholesterol levels less than or equal to 2.28th centile and 9% had levels greater than or equal to 97.72nd centile.
Analysis of the sterol profile suggested that the hypocholesterolemia was due to a synthetic defect rather than decreased oral intake.
Thus we hypothesize that ASD patients with abnormal cholesterol levels will have polymorphisms or mutations of either genes involved in cholesterol homeostasis or genes encoding proteins whose function is altered by changes in cholesterol levels.
To test this hypothesis we propose to 1) use serum cholesterol levels to define ASD endophenotypes and 2) to perform genomic resequencing of all known exons in hypo- and normocholesterolemic ASD patients.
Study Type
Observational
Enrollment (Actual)
322
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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Maryland
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Baltimore, Maryland, United States, 21205
- Kennedy Krieger Institute
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Bethesda, Maryland, United States, 20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
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Ohio
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Columbus, Ohio, United States, 43210-1240
- Ohio State University
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Yes
Genders Eligible for Study
All
Description
INCLUSION CRITERIA:
- Prior participation in Autism Genetic Research Exchange
- Multiple affected children with ASD
- Willingness to contact the NIH and reconsent
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- Seltzer MM, Shattuck P, Abbeduto L, Greenberg JS. Trajectory of development in adolescents and adults with autism. Ment Retard Dev Disabil Res Rev. 2004;10(4):234-47. doi: 10.1002/mrdd.20038.
- Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, Mandell DS, Miller LA, Pinto-Martin J, Reaven J, Reynolds AM, Rice CE, Schendel D, Windham GC. The epidemiology of autism spectrum disorders. Annu Rev Public Health. 2007;28:235-58. doi: 10.1146/annurev.publhealth.28.021406.144007.
- Jacobson JW, Mulick JA. System and cost research issues in treatments for people with autistic disorders. J Autism Dev Disord. 2000 Dec;30(6):585-93. doi: 10.1023/a:1005691411255.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start
January 21, 2010
Study Completion
May 15, 2017
Study Registration Dates
First Submitted
January 28, 2010
First Submitted That Met QC Criteria
January 28, 2010
First Posted (Estimate)
January 29, 2010
Study Record Updates
Last Update Posted (Actual)
December 17, 2019
Last Update Submitted That Met QC Criteria
December 14, 2019
Last Verified
May 15, 2017
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- 100022
- 10-CH-0022
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Autism Spectrum Disorder
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Stanford UniversityCalifornia Department of Developmental ServicesRecruitingAutism Spectrum Disorder | Autistic Disorder | Autism | Autism Spectrum Disorders | Autistic Disorders Spectrum | Autistic Spectrum Disorder | Autistic Spectrum DisordersUnited States
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Axial Therapeutics, Inc.Active, not recruitingAutism Spectrum Disorder (ASD)United States, Australia, New Zealand
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Technion, Israel Institute of TechnologyCompleted
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Stanford UniversityNational Institute on Deafness and Other Communication Disorders (NIDCD)CompletedAutism | Autism Spectrum Disorder (ASD)United States
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Corporacion Parc TauliUnknown
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Institut de Recherches Internationales ServierADIR, a Servier Group companyTerminatedAutism Spectrum Disorder (ASD)Spain, United States, Hungary, Poland, Australia, United Kingdom, Brazil, Czechia, France, Italy, Portugal, Slovakia
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Florida Gulf Coast UniversityCompletedAutism Spectrum Disorder High-FunctioningUnited States
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Hospital Universitario Dr. Jose E. GonzalezUnknownAutism | Autism SpectrumMexico
-
National Taiwan University HospitalCompletedAutism Spectrum Disorder High-FunctioningTaiwan