Studies of Autistic Patients: Gene Networks and Clinical Subtypes

NCT01092208 | Terminated

• 2 other identifiers: 10008410-CH-0084
• Study Type: observational
• Target: 11
• Locations: 1 country
• Sites: 1

Brief Summary

Background:

• Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children with autism.
• The genetic condition tuberous sclerosis, which can cause the growth of benign tumors in the brain and other parts of the body, is also linked with autism. Researchers have been able to determine the specific genetic mutations involved in tuberous sclerosis, and as a result are interested in studying the genetic information of children who have both tuberous sclerosis and autism, as well as tuberous sclerosis without autism. Objectives: \- To develop a collection of DNA samples from blood and skin samples taken from children with autism and/or tuberous sclerosis, as well as healthy volunteers. Eligibility:
• Children between 4 to 18 years of age who have autism and/or tuberous sclerosis, or are healthy volunteers.
• Some of the healthy volunteers will be siblings of children with autism. Design:
• Participants will be screened with a medical history and a physical examination, and may also have a genetic evaluation.
• Participants will provide a blood sample and a skin biopsy for further study.
• No treatment will be provided as part of this protocol.

Conditions

Autism; Tuberous Sclerosis

Keywords

Autism; iPS Cells; Fibroblasts; Gene Networks; Tuberous Sclerosis; Healthy Volunteer; HV

Eligibility Criteria

• Age: 4 Years - 18 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Autism Groups:
• Meeting criteria for a diagnosis of autism, based on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule, as well as clinical judgment.
• Health Sibling and Typically Developing Group: Within 1.5 standard deviations from the mean on the cognitive test performed, and lower than the cutoff scores on the Autism Diagnostic Interview and Autism Diagnostic Observation Schedule, and not meeting criteria for any psychiatric disorder on interviews or questionnaires.
• Tuberous Sclerosis Groups: Confirmed diagnosis of Tuberous Sclerosis

You may not qualify if:

• Autism Groups:
• Non-idiopathic autism (e.g. previously identified genetic abnormality associated with autism in that individual)
• Typically Developing Group:
• History of receiving a diagnosis or services for psychiatric or significant learning issues

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Yonan AL, Palmer AA, Smith KC, Feldman I, Lee HK, Yonan JM, Fischer SG, Pavlidis P, Gilliam TC. Bioinformatic analysis of autism positional candidate genes using biological databases and computational gene network prediction. Genes Brain Behav. 2003 Oct;2(5):303-20. doi: 10.1034/j.1601-183x.2003.00041.x.

  PMID: 14606695 BACKGROUND

• Levitt P, Campbell DB. The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. J Clin Invest. 2009 Apr;119(4):747-54. doi: 10.1172/JCI37934. Epub 2009 Apr 1.

  PMID: 19339766 BACKGROUND

• Sendtner M. Stem cells: Tailor-made diseased neurons. Nature. 2009 Jan 15;457(7227):269-70. doi: 10.1038/457269a. No abstract available.

  PMID: 19148087 BACKGROUND

MeSH Terms

Conditions

Autistic Disorder; Tuberous Sclerosis

Condition Hierarchy (Ancestors)

Autism Spectrum Disorder; Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Hamartoma; Neoplasms; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Nervous System Diseases; Neurocutaneous Syndromes; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Owen M Rennert, M.D.

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: RETROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: March 23, 2010
• First Posted: March 24, 2010
• Study Start: March 17, 2010
• Study Completion: September 24, 2013
• Last Updated: December 17, 2019

Record last verified: 2013-09-24

Locations

US (1)