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Exome Sequencing in Autistic Spectrum Disorder

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ClinicalTrials.gov Identifier: NCT01059201
Recruitment Status : Completed
First Posted : January 29, 2010
Last Update Posted : October 6, 2017
Sponsor:
Information provided by (Responsible Party):

Study Description
Brief Summary:

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.


Condition or disease
Autism Spectrum Disorder Autism Autistic Disorder

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 Design

Study Type : Observational
Actual Enrollment : 322 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Exome Sequencing in Autistic Spectrum Disorder Patients With Altered Cholesterol Homeostasis
Study Start Date : January 21, 2010
Estimated Study Completion Date : May 15, 2017


Groups and Cohorts


Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:

    1. Prior participation in Autism Genetic Research Exchange
    2. Multiple affected children with ASD
    3. Willingness to contact the NIH and reconsent
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01059201


Locations
United States, Maryland
Kennedy Krieger Institute
Baltimore, Maryland, United States, 21205
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Ohio
Ohio State University
Columbus, Ohio, United States, 43210-1240
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
Principal Investigator: Forbes D Porter, M.D. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
More Information

Publications:
Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT01059201     History of Changes
Other Study ID Numbers: 100022
10-CH-0022
First Posted: January 29, 2010    Key Record Dates
Last Update Posted: October 6, 2017
Last Verified: May 15, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Autism Spectrum Disorder
Cholesterol
Exome Sequencing
Autistic Spectrum Disorder
ASD

Additional relevant MeSH terms:
Disease
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Pathologic Processes
Neurodevelopmental Disorders
Mental Disorders