Studies of Autistic Patients: Gene Networks and Clinical Subtypes
Stopped early
Conditions studied: Autism, Tuberous Sclerosis
In brief
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.
Key facts
- Study ID
- NCT01092208
- Run by
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- People needed
- 11
- Starts
- 2010-03-17
- Expected to finish
- 2013-09-24
- Last updated by the study team
- 2019-12-17
Who can join
Age: 4 and older, up to 18. Sex: male. Healthy volunteers: accepted.
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
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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