Human Epilepsy Genetics--Neuronal Migration Disorders Study

September 20, 2023 updated by: Dr. Chris Walsh, Harvard University Faculty of Medicine
The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.

Study Overview

Status

Recruiting

Conditions

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 other epileptic conditions, related brain malformations and disorders of cognition.

The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition (EDHC). The Walsh Laboratory at Boston Children's Hospital is looking for genes involved in brain development. Conditions that we study include brain malformations, such as polymicrogyria, lissencephaly, pachygyria, heterotopias, microcephaly and cerebellar hypoplasia, and inherited disorders of cognition, such as familial intellectual disability 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 familial intellectual disability or autism, in order to take part in this research.

Study Type

Observational

Enrollment (Estimated)

3500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

  • Name: Abbe Lai, MS
  • Phone Number: 617-919-4371

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Recruiting
        • Boston Children's Hospital, Walsh Laboratory
        • Contact:
        • Contact:
          • Abbe Lai, MS
          • Phone Number: 617-919-4371
        • Principal Investigator:
          • Christopher A. Walsh, M.D., Ph.D.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Participants will be selected through collaborations with clinicians.

Description

INCLUSION:

  • Males and females of any age.
  • Persons with a brain malformation or disorder of cognition (familial intellectual disability [previously known as mental retardation] or autism).

EXCLUSION:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification and characterization of genes important in normal brain development and associated with brain malformations.
Time Frame: Ongoing
Genetic variants associated with disorder of brain development
Ongoing

Collaborators and Investigators

This is where you will find people and organizations involved with this 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

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 1996

Primary Completion (Estimated)

June 1, 2030

Study Completion (Estimated)

June 1, 2030

Study Registration Dates

First Submitted

July 11, 2002

First Submitted That Met QC Criteria

July 11, 2002

First Posted (Estimated)

July 12, 2002

Study Record Updates

Last Update Posted (Actual)

September 21, 2023

Last Update Submitted That Met QC Criteria

September 20, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • R01NS035129 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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