Epilepsy Phenome/Genome Project (EPGP)

November 9, 2018 updated by: University of California, San Francisco

Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy

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

Study Overview

Status

Completed

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Actual)

4150

Contacts and Locations

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

Study Locations

  • Argentina
      • Buenos Aires, Argentina
        • Hospital General Agudos Jose Maria Ramos Mejia
  • Australia
    • Victoria
      • Melbourne, Victoria, Australia, 3081
        • University of Melbourne
  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35294
        • University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312
    • Arizona
      • Phoenix, Arizona, United States, 85054
        • Mayo Clinic College of Medicine Arizona
    • California
      • San Francisco, California, United States, 94143-0114
        • University of California, San Francisco, 400 Parnassus, Room 847
    • Colorado
      • Denver, Colorado, United States, 80045
        • The Children's Hospital
    • Florida
      • Jacksonville, Florida, United States, 32224
        • Mayo Clinic College of Medicine Florida
    • Illinois
      • Chicago, Illinois, United States, 60612-3833
        • Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway
    • Maryland
      • Baltimore, Maryland, United States, 21287-0001
        • Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Children's Hospital Boston, 300 Longwood Ave.
    • Michigan
      • Ann Arbor, Michigan, United States, 48109-2200
        • University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place
    • Minnesota
      • Rochester, Minnesota, United States, 55905
        • Mayo Clinic College of Medicine, 200 First St., SW
    • Missouri
      • Saint Louis, Missouri, United States, 63110
        • Washington University
    • New Jersey
      • West Orange, New Jersey, United States, 07052
        • Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415
    • New York
      • Bronx, New York, United States, 10467
        • Albert Einstein College of Medicine, 111 East 210th St.
      • New York, New York, United States, 10016
        • Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor
      • New York, New York, United States, 10032
        • Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)
    • Ohio
      • Cincinnati, Ohio, United States, 45229-3026
        • Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue
      • Cleveland, Ohio, United States, 44195
        • Cleveland Clinic
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg-Neurology
      • Pittsburgh, Pennsylvania, United States, 15201
        • Children's Hospital of Pittsburgh of UPMC
    • Tennessee
      • Nashville, Tennessee, United States, 37232
        • Vanderbilt University Medical Center
    • Texas
      • Houston, Texas, United States, 77030
        • University of Texas Health Science Center at Houston
    • Virginia
      • Charlottesville, Virginia, United States, 22903
        • University of Virginia Health System
    • Washington
      • Seattle, Washington, United States, 98105
        • Seattle Children's Hospital

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

4 weeks to 60 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

EPGP will recruit persons with specific forms of epilepsy.

Description

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).

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

Cohorts and Interventions

Group / Cohort
subject
individuals with epilepsy

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
EPGP will recruit persons with specific forms of epilepsy. DNA will be isolated from participants' blood and genetic variants associated with common forms of epilepsy will be identified.
Time Frame: over 4.5 years
over 4.5 years

Collaborators and Investigators

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

Sponsor

University of California, San Francisco

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

  • Principal Investigator: Ruben Kuzniecky, MD, New York University, Comprehensive Epilepsy Center
  • Principal Investigator: Daniel Lowenstein, MD, University of California, San Francisco, Department of Neurology

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.

General Publications

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

November 1, 2007

Primary Completion (Actual)

December 1, 2013

Study Completion (Actual)

October 1, 2018

Study Registration Dates

First Submitted

October 30, 2007

First Submitted That Met QC Criteria

October 30, 2007

First Posted (Estimate)

November 1, 2007

Study Record Updates

Last Update Posted (Actual)

November 13, 2018

Last Update Submitted That Met QC Criteria

November 9, 2018

Last Verified

November 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1R01NS053998-01A1
  • CRC (NINDS)
  • 1R01NS053998 (Other Identifier: This is an NIH grant number, but it will not accept it as one.)

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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