Epilepsy Phenome/Genome Project

NCT ID: NCT00552045

Last Updated: 2018-11-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

4150 participants

Study Classification

OBSERVATIONAL

Study Start Date

2007-11-30

Study Completion Date

2018-10-31

Brief Summary

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The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.

Detailed Description

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Epilepsy is one of the most common neurological disorders and is a major public health concern. Approximately 30 percent of people with epilepsy have medically intractable epilepsy, and the medical and social consequences of the disorder are enormous. Treatments developed for epilepsy have largely been experimental rather than based on knowledge of basic mechanisms because the mechanisms are poorly understood.

The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, international, multi-institutional, collaborative research project aimed at advancing the understanding of the genetic basis of the most common forms of epilepsy.

The overall goal of EPGP is to collect detailed, high quality phenotypic (i.e., characteristics of individuals, from the molecular level to the whole person) information on persons with epilepsy and to compare the phenotypic information with genomic information. EPGP will provide a resource that may lead to many discoveries related to the diagnosis and treatment of epilepsy, including the eventual development of new therapies based on a better understanding of causes of the disorder.

Conditions

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Epilepsy Localization-related Epilepsy Infantile Spasms Lennox-Gastaut Syndrome Polymicrogyria Periventricular Heterotopias

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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subject

individuals with epilepsy

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* Current age from 4 weeks to 60 years.
* Clear diagnosis of epilepsy, i.e., a lifetime history of two or more unprovoked seizures.
* Age at first unprovoked seizure younger than 40 years.
* High quality clinical and laboratory data (i.e., neuroimaging, EEG) must be available throughout the patient's history
* All patients with localization-related epilepsy (LRE) or idiopathic generalized epilepsy (IGE) must have a first-degree relative (parent, child, or sibling) with non-symptomatic (idiopathic or cryptogenic) epilepsy who is willing and available to participate.
* All patients with infantile spasms (IS), Lennox-Gastaut syndrome (LGS), or malformations of cortical development (MCD) must have both biological parents available and willing to participate.

Exclusion Criteria

* Clinical and laboratory data do not allow a clear determination of whether the patient has epilepsy, or whether the diagnosis is LRE, IGE, IS, LGS, or MCD.
* Exclusively febrile seizures or other acute symptomatic seizures.
* Identified antecedent cause of epilepsy (i.e., a structural or metabolic insult to the CNS prior to the first unprovoked seizure, such as stroke, brain tumor, severe head trauma, etc., or a progressive neurodegenerative disorder).
* Recognized genetic syndrome (e.g., tuberous sclerosis, neurofibromatosis, Rett's or Angelman's syndromes) or chromosomal abnormality. (e.g., aneuploidies, unbalanced translocations, or chromosomal deletions and duplications detectable by conventional medical karyotyping).
Minimum Eligible Age

4 Weeks

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

University of California, San Francisco

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Daniel Lowenstein, MD

Role: PRINCIPAL_INVESTIGATOR

University of California, San Francisco, Department of Neurology

Ruben Kuzniecky, MD

Role: PRINCIPAL_INVESTIGATOR

New York University, Comprehensive Epilepsy Center

Locations

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University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312

Birmingham, Alabama, United States

Site Status

Mayo Clinic College of Medicine Arizona

Phoenix, Arizona, United States

Site Status

University of California, San Francisco, 400 Parnassus, Room 847

San Francisco, California, United States

Site Status

The Children's Hospital

Denver, Colorado, United States

Site Status

Mayo Clinic College of Medicine Florida

Jacksonville, Florida, United States

Site Status

Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway

Chicago, Illinois, United States

Site Status

Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street

Baltimore, Maryland, United States

Site Status

Children's Hospital Boston, 300 Longwood Ave.

Boston, Massachusetts, United States

Site Status

University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place

Ann Arbor, Michigan, United States

Site Status

Mayo Clinic College of Medicine, 200 First St., SW

Rochester, Minnesota, United States

Site Status

Washington University

St Louis, Missouri, United States

Site Status

Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415

West Orange, New Jersey, United States

Site Status

Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor

New York, New York, United States

Site Status

Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)

New York, New York, United States

Site Status

Albert Einstein College of Medicine, 111 East 210th St.

The Bronx, New York, United States

Site Status

Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue

Cincinnati, Ohio, United States

Site Status

Cleveland Clinic

Cleveland, Ohio, United States

Site Status

Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg-Neurology

Philadelphia, Pennsylvania, United States

Site Status

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, United States

Site Status

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Site Status

University of Texas Health Science Center at Houston

Houston, Texas, United States

Site Status

University of Virginia Health System

Charlottesville, Virginia, United States

Site Status

Seattle Children's Hospital

Seattle, Washington, United States

Site Status

Hospital General Agudos Jose Maria Ramos Mejia

Buenos Aires, , Argentina

Site Status

University of Melbourne

Melbourne, Victoria, Australia

Site Status

Countries

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United States Argentina Australia

References

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Weisenberg JLZ, Fitzgerald RT, Constantino JN, Winawer MR, Thio LL; EPGP Investigators. Familial aggregation of status epilepticus in generalized and focal epilepsies. Neurology. 2020 Oct 13;95(15):e2140-e2149. doi: 10.1212/WNL.0000000000010708. Epub 2020 Sep 11.

Reference Type DERIVED
PMID: 32917807 (View on PubMed)

Other Identifiers

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CRC

Identifier Type: -

Identifier Source: secondary_id

1R01NS053998

Identifier Type: OTHER

Identifier Source: secondary_id

1R01NS053998-01A1

Identifier Type: -

Identifier Source: org_study_id

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