Human Epilepsy Genetics--Neuronal Migration Disorders Study

Human Epilepsy Genetics--Neuronal Migration Disorders Study

Sponsors

Lead sponsor: Harvard University Faculty of Medicine

Collaborator: National Institute of Neurological Disorders and Stroke (NINDS)
Howard Hughes Medical Institute

Source Harvard University Faculty of Medicine
Brief Summary

The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition.

Detailed Description

Pediatric epilepsy is responsible for tremendous long-term healthcare costs. Analysis of inherited epilepsy conditions has allowed for identification of several key genes active in the developing brain. Although many genetic abnormalities of the brain are rare and lethal, rapidly advancing knowledge of the structure of the human genome makes it a realistic goal to identify genes responsible for several other epileptic conditions.

The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition (EDHC). The Walsh Laboratory at the Children's Hospital Boston and Beth Israel Deaconess Medical Center is looking for genes involved in brain development. Conditions that we study include brain malformations, such as polymicrogyria, lissencephaly, Walker-Warburg syndrome, heterotopias, and cerebellar hypoplasia, and inherited disorders of cognition, such as familial mental retardation and familial autism; people with these conditions also often have epilepsy. The structural brain abnormalities are usually diagnosed by brain MRI or sometimes CT scans. Adults and children with these conditions, and their family members, are invited to participate in our study. By comparing the DNA of individuals or families that carry EDHC to the DNA of people in the general population, it may be possible to learn more about the genetic bases of certain forms of EDHC.

Study participants must have a brain malformation or disorder of cognition such as mental retardation or autism in addition to epilepsy in order to take part in this research.

Overall Status Unknown status
Start Date April 1996
Completion Date February 2019
Primary Completion Date February 2019
Study Type Observational
Primary Outcome
Measure Time Frame
Identification and characterization of genes important in normal brain development and associated with congenital brain malformations. Ongoing
Enrollment 3500
Condition
Eligibility

Sampling method: Non-Probability Sample

Criteria:

INCLUSION:

- Males and females of any age.

- Persons with a brain malformation or disorder of cognition (intellectual disability [previously known as mental retardation] or autism).

EXCLUSION:

- Persons without a brain malformation or disorder of cognition (intellectual disability (previously known as mental retardation] or autism).

Gender: All

Minimum age: N/A

Maximum age: N/A

Healthy volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Christopher A. Walsh, M.D., Ph.D. Principal Investigator Harvard Institutes of Medicine
Overall Contact

Last name: Brenda Barry, MS

Phone: 617-919-4371

Email: [email protected]

Location
facility status contact contact_backup investigator
Children's Hospital Boston, CLS15070, Walsh Lab | Boston, Massachusetts, 02115, United States Recruiting Brenda Barry, MS 617-919-4371 [email protected] Christopher A. Walsh, M.D., Ph.D. Principal Investigator
Children's Hospital Boston; CLS 15070 | Boston, Massachusetts, 02115, United States Recruiting Brenda Barry, MS 617-919-4371 [email protected]
Location Countries

United States

Verification Date

June 2014

Responsible Party

Responsible party type: Principal Investigator

Investigator affiliation: Harvard University Faculty of Medicine

Investigator full name: Dr. Chris Walsh

Investigator title: Investigator

Keywords
Has Expanded Access No
Condition Browse
Study Design Info

Observational model: Family-Based

Source: ClinicalTrials.gov