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Human Epilepsy Genetics--Neuronal Migration Disorders Study

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ClinicalTrials.gov Identifier: NCT00041600
Recruitment Status : Recruiting
First Posted : July 12, 2002
Last Update Posted : March 2, 2021
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

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

Condition or disease
Epilepsy Seizures Cognition Disorders Neuronal Migration Disorders

Detailed Description:

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.

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Study Type : Observational
Estimated Enrollment : 3500 participants
Observational Model: Family-Based
Time Perspective: Other
Official Title: Human Epilepsy Genetics--Neuronal Migration Disorders Study
Study Start Date : April 1996
Estimated Primary Completion Date : June 2025
Estimated Study Completion Date : June 2025





Primary Outcome Measures :
  1. 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


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Ages Eligible for Study:   Child, Adult, Older Adult
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).

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
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Contact: Jennifer Partlow, MS 617-919-2865 walshresearch@childrens.harvard.edu
Contact: Abbe Lai, MS 617-919-4371

Locations
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United States, Massachusetts
Boston Children's Hospital, Walsh Laboratory Recruiting
Boston, Massachusetts, United States, 02115
Contact: Jennifer Partlow, MS    617-919-2865    walshresearch@childrens.harvard.edu   
Contact: Abbe Lai, MS    617-919-4371      
Principal Investigator: Christopher A. Walsh, M.D., Ph.D.         
Sponsors and Collaborators
Harvard University Faculty of Medicine
National Institute of Neurological Disorders and Stroke (NINDS)
Howard Hughes Medical Institute
Investigators
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Principal Investigator: Christopher A. Walsh, M.D., Ph.D. Harvard Institutes of Medicine
Additional Information:
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Responsible Party: Dr. Chris Walsh, Investigator, Harvard University Faculty of Medicine
ClinicalTrials.gov Identifier: NCT00041600    
Other Study ID Numbers: R01NS035129 ( U.S. NIH Grant/Contract )
First Posted: July 12, 2002    Key Record Dates
Last Update Posted: March 2, 2021
Last Verified: February 2021
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:
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Epilepsy
Seizures
Malformations of Cortical Development, Group II
Disease
Cognition Disorders
Pathologic Processes
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Neurocognitive Disorders
Mental Disorders
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities