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Trial record 1 of 3 for:    Neuronal Migration Disorders
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Human Epilepsy Genetics--Neuronal Migration Disorders Study

This study is currently recruiting participants.
Verified June 2014 by Dr. Chris Walsh, Harvard University Faculty of Medicine
Sponsor:
ClinicalTrials.gov Identifier:
NCT00041600
First Posted: July 12, 2002
Last Update Posted: June 30, 2014
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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
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
  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 Dr. Chris Walsh, 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 ]

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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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
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
  More Information

Additional Information:
Responsible Party: Dr. Chris Walsh, Investigator, Harvard University Faculty of Medicine
ClinicalTrials.gov Identifier: NCT00041600     History of Changes
Other Study ID Numbers: R01NS035129 ( U.S. NIH Grant/Contract )
First Submitted: July 11, 2002
First Posted: July 12, 2002
Last Update Posted: June 30, 2014
Last Verified: June 2014

Keywords provided by Dr. Chris Walsh, 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:
Disease
Cognition Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurocognitive Disorders
Mental Disorders
Epilepsy
Seizures
Malformations of Cortical Development, Group II
Pathologic Processes
Neurologic Manifestations
Signs and Symptoms
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities


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