Exome Sequencing in Autistic Spectrum Disorder

NCT01059201 | Completed

• 2 other identifiers: 10002210-CH-0022
• Study Type: observational
• Target: 322
• Locations: 1 country
• Sites: 3

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.

Conditions

Autism Spectrum Disorder; Autism; Autistic Disorder

Keywords

Autism Spectrum Disorder; Cholesterol; Exome Sequencing; Autistic Spectrum Disorder; ASD

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Prior participation in Autism Genetic Research Exchange
• Multiple affected children with ASD
• Willingness to contact the NIH and reconsent

Sponsors & Collaborators

• Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): lead

Study Sites (3)

Kennedy Krieger Institute

Baltimore, Maryland, 21205, United States

Location

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Ohio State University

Columbus, Ohio, 43210-1240, United States

Location

Related Publications (3)

• 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.

  PMID: 17367287 BACKGROUND

• 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.

  PMID: 11261469 BACKGROUND

• 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.

  PMID: 15666341 BACKGROUND

MeSH Terms

Conditions

Autism Spectrum Disorder; Autistic Disorder

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Officials

• Forbes D Porter, M.D.

  Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 28, 2010
• First Posted: January 29, 2010
• Study Start: January 21, 2010
• Study Completion: May 15, 2017
• Last Updated: December 17, 2019

Record last verified: 2017-05-15

Locations

US (3)