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Human Epilepsy Genetics--Neuronal Migration Disorders Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00041600
Recruitment Status : Unknown
Verified June 2014 by Dr. Chris Walsh, Harvard University Faculty of Medicine.
Recruitment status was:  Recruiting
First Posted : July 12, 2002
Last Update Posted : June 30, 2014
Sponsor:
Collaborators:
National Institute of Neurological Disorders and Stroke (NINDS)
Howard Hughes Medical Institute
Information provided by (Responsible Party):
Dr. Chris Walsh, Harvard University Faculty of Medicine

Tracking Information
First Submitted Date July 11, 2002
First Posted Date July 12, 2002
Last Update Posted Date June 30, 2014
Study Start Date April 1996
Estimated Primary Completion Date February 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 27, 2014)
Identification and characterization of genes important in normal brain development and associated with congenital brain malformations. [ Time Frame: Ongoing ]
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Human Epilepsy Genetics--Neuronal Migration Disorders Study
Official Title Human Epilepsy Genetics--Neuronal Migration Disorders Study
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.

Study Type Observational
Study Design Observational Model: Family-Based
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
whole blood, DNA
Sampling Method Non-Probability Sample
Study Population Participants will be selected through collaborations with clinicians.
Condition
  • Epilepsy
  • Seizures
  • Cognition Disorders
  • Neuronal Migration Disorders
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: June 23, 2005)
3500
Original Enrollment Same as current
Estimated Study Completion Date February 2019
Estimated Primary Completion Date February 2019   (Final data collection date for primary outcome measure)
Eligibility 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).
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00041600
Other Study ID Numbers R01NS035129( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Dr. Chris Walsh, Harvard University Faculty of Medicine
Study Sponsor Harvard University Faculty of Medicine
Collaborators
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • Howard Hughes Medical Institute
Investigators
Principal Investigator: Christopher A. Walsh, M.D., Ph.D. Harvard Institutes of Medicine
PRS Account Harvard University Faculty of Medicine
Verification Date June 2014