Epilepsy Phenome/Genome Project
This trial is active, not recruiting.
|Conditions||epilepsy, localization-related epilepsy, infantile spasms, lennox-gastaut syndrome, polymicrogyria, periventricular heterotopias|
|Sponsor||University of California, San Francisco|
|Collaborator||National Institute of Neurological Disorders and Stroke (NINDS)|
|Start date||November 2007|
|End date||December 2013|
|Trial size||4150 participants|
|Trial identifier||NCT00552045, 1R01NS053998, 1R01NS053998-01A1, CRC|
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.
|United States||No locations recruiting|
|Other countries||No locations recruiting|
hide locations and contact info
|Birmingham, AL||University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312||no longer recruiting|
|Phoenix, AZ||Mayo Clinic College of Medicine Arizona||no longer recruiting|
|San Francisco, CA||University of California, San Francisco, 400 Parnassus, Room 847||no longer recruiting|
|Denver, CO||The Children's Hospital||no longer recruiting|
|Jacksonville, FL||Mayo Clinic College of Medicine Florida||no longer recruiting|
|Chicago, IL||Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway||no longer recruiting|
|Baltimore, MD||Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street||no longer recruiting|
|Boston, MA||Children's Hospital Boston, 300 Longwood Ave.||no longer recruiting|
|Ann Arbor, MI||University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place||no longer recruiting|
|Rochester, MN||Mayo Clinic College of Medicine, 200 First St., SW||no longer recruiting|
|St. Louis, MO||Washington University||no longer recruiting|
|West Orange, NJ||Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415||no longer recruiting|
|Bronx, NY||Albert Einstein College of Medicine, 111 East 210th St.||no longer recruiting|
|New York, NY||Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)||no longer recruiting|
|New York, NY||Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor||no longer recruiting|
|Cincinnati, OH||Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue||no longer recruiting|
|Cleveland, OH||Cleveland Clinic||no longer recruiting|
|Philadelphia, PA||Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg—Neurology||no longer recruiting|
|Pittsburgh, PA||Children's Hospital of Pittsburgh of UPMC||no longer recruiting|
|Nashville, TN||Vanderbilt University Medical Center||no longer recruiting|
|Houston, TX||University of Texas Health Science Center at Houston||no longer recruiting|
|Charlottesville, VA||University of Virginia Health System||no longer recruiting|
|Seattle, WA||Seattle Children's Hospital||no longer recruiting|
|Buenos Aires, Argentina||Hospital General Agudos Jose Maria Ramos Mejia||no longer recruiting|
|Melbourne, Australia||University of Melbourne||no longer recruiting|
|Observational model||case control|
individuals with epilepsy
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
Male or female participants up to 60 years old.
- 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.
- 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).
|Official title||Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy|
|Principal investigator||Daniel Lowenstein, MD|
|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.|
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