Human Epilepsy Genetics--Neuronal Migration Disorders Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by Harvard University Faculty of Medicine
Sponsor:
Collaborators:
Howard Hughes Medical Institute
Information provided by (Responsible Party):
Dr. Chris Walsh, Harvard University Faculty of Medicine
ClinicalTrials.gov Identifier:
NCT00041600
First received: July 11, 2002
Last updated: June 27, 2014
Last verified: June 2014
  Purpose

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


Condition
Epilepsy
Seizures
Cognition Disorders
Neuronal Migration Disorders

Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Human Epilepsy Genetics--Neuronal Migration Disorders Study

Resource links provided by NLM:


Further study details as provided by Harvard University Faculty of Medicine:

Primary Outcome Measures:
  • Identification and characterization of genes important in normal brain development and associated with congenital brain malformations. [ Time Frame: Ongoing ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

whole blood, DNA


Estimated Enrollment: 3500
Study Start Date: April 1996
Estimated Study Completion Date: February 2019
Estimated Primary Completion Date: February 2019 (Final data collection date for primary outcome measure)
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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Participants will be selected through collaborations with clinicians.

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).
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00041600

Contacts
Contact: Brenda Barry, MS 617-919-4371 walshresearch@childrens.harvard.edu
Contact: Jennifer Partlow, MS 617-919-2865

Locations
United States, Massachusetts
Children's Hospital Boston, CLS15070, Walsh Lab Recruiting
Boston, Massachusetts, United States, 02115
Contact: Brenda Barry, MS    617-919-4371    walshresearch@childrens.harvard.edu   
Contact: Jennifer Partlow, MS    617-919-2865      
Principal Investigator: Christopher A. Walsh, M.D., Ph.D.         
Children's Hospital Boston; CLS 15070 Recruiting
Boston, Massachusetts, United States, 02115
Contact: Brenda Barry, MS    617-919-4371    walshresearch@childrens.harvard.edu   
Contact: Jennifer Partlow, MS    617-919-2865      
Sponsors and Collaborators
Harvard University Faculty of Medicine
Howard Hughes Medical Institute
Investigators
Principal Investigator: Christopher A. Walsh, M.D., Ph.D. Harvard Institutes of Medicine
  More Information

Additional Information:
No publications provided

Responsible Party: Dr. Chris Walsh, Investigator, Harvard University Faculty of Medicine
ClinicalTrials.gov Identifier: NCT00041600     History of Changes
Other Study ID Numbers: R01NS35129
Study First Received: July 11, 2002
Last Updated: June 27, 2014
Health Authority: United States: Federal Government

Keywords provided by Harvard University Faculty of Medicine:
epilepsy
seizures
disorders of human cognition
neuronal migration
neuronal migration disorders
lissencephaly
schizencephaly
polymicrogyria
agenesis of the corpus callosum
heterotopia

Additional relevant MeSH terms:
Cognition Disorders
Epilepsy
Seizures
Neuronal Migration Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders
Mental Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities

ClinicalTrials.gov processed this record on July 23, 2014