Studies of Autistic Patients: Gene Networks and Clinical Subtypes
NCT01092208 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 11
Last updated 2019-12-17
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
Sponsors & Collaborators
-
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
lead NIH
Principal Investigators
-
Owen M Rennert, M.D. · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Eligibility
- Min Age
- 4 Years
- Max Age
- 18 Years
- Sex
- MALE
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2010-03-17
- Completion
- 2013-09-24
Countries
- United States
Study Locations
More Related Trials
-
Brain Genomics Superstruct Project
NCT01552460 ·Status: COMPLETED
-
Study of the Genetic Factors Involved in Autism and Related Disorders
NCT04727489 ·Status: RECRUITING
-
A Family Study of Copy Number Variations in Patients With Autism Spectrum Disorder
NCT02228876 ·Status: COMPLETED
-
Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461420 ·Status: ACTIVE_NOT_RECRUITING
-
Study of Heritable Connective Tissue Disorders
NCT00001641 ·Status: COMPLETED
-
Genetics of Primary Ciliary Dyskinesia
NCT02389049 ·Status: COMPLETED
-
Genetic Study of Newly Diagnosed Central Nervous System Tumors in Young Children
NCT00010114 ·Status: COMPLETED
-
Investigation of Neuroserpin as an Autism Candidate Gene
NCT00917683 ·Status: TERMINATED
-
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851 ·Status: RECRUITING
-
Investigation of the Genetic and Environmental Causes of Autism: a Multi-Center Study
NCT06662591 ·Status: NOT_YET_RECRUITING
-
Genetic Study of Brain Tumors in Young Children
NCT00010101 ·Status: TERMINATED
-
Genetics of Epilepsy and Related Disorders
NCT01858285 ·Status: RECRUITING
-
Genetic Studies to Identify Stroke Subtypes and Outcome
NCT00357513 ·Status: COMPLETED
-
The Imaging Genetic Study of Schizophrenia and Family
NCT01259232 ·Status: UNKNOWN
-
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
NCT03829176 ·Status: COMPLETED ·Phase: NA
-
Pediatric Patients With Metabolic or Other Genetic Disorders
NCT02769949 ·Status: COMPLETED
-
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03548779 ·Status: COMPLETED ·Phase: NA
-
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
NCT01238250 ·Status: RECRUITING
-
Study of Clinical and Molecular Manifestations of Genetic Disorders
NCT00001466 ·Status: COMPLETED
-
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
NCT01375543 ·Status: COMPLETED
-
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
NCT01193088 ·Status: RECRUITING
-
Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex
NCT00001452 ·Status: COMPLETED
-
Studies of Heritable Disorders of Connective Tissue
NCT00270686 ·Status: COMPLETED
-
Neurofibromatosis Type 1 Brain Tumor Genetic Risk
NCT01707836 ·Status: COMPLETED
-
Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
NCT02588638 ·Status: UNKNOWN