Epilepsy Phenome/Genome Project (EPGP)

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. Read our disclaimer for details. Identifier: NCT00552045
Recruitment Status : Unknown
Verified January 2014 by University of California, San Francisco.
Recruitment status was:  Active, not recruiting
First Posted : November 1, 2007
Last Update Posted : January 16, 2014
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of California, San Francisco

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

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

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
Actual Enrollment : 4150 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy
Study Start Date : November 2007
Actual Primary Completion Date : December 2013
Estimated Study Completion Date : April 2014

individuals with epilepsy

Primary Outcome Measures :
  1. 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 ]

Biospecimen Retention:   Samples With DNA
whole blood

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 60 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
EPGP will recruit persons with specific forms of epilepsy.

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).

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 identifier (NCT number): NCT00552045

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

Additional Information:
Responsible Party: University of California, San Francisco Identifier: NCT00552045     History of Changes
Other Study ID Numbers: 1R01NS053998-01A1
1R01NS053998 ( Other Identifier: This is an NIH grant number, but it will not accept it as one. )
First Posted: November 1, 2007    Key Record Dates
Last Update Posted: January 16, 2014
Last Verified: January 2014

Keywords provided by University of California, San Francisco:
localization-related epilepsy
idiopathic generalized epilepsy
infantile spasms
Lennox-Gastaut syndrome
periventricular heterotopias
malformations of cortical development

Additional relevant MeSH terms:
Lennox Gastaut Syndrome
Spasms, Infantile
Epilepsies, Partial
Periventricular Nodular Heterotopia
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Epilepsy, Generalized
Pathological Conditions, Anatomical
Malformations of Cortical Development, Group III
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities
Malformations of Cortical Development, Group II