Epilepsy Phenome/Genome Project - Full Text View

Sponsor:	University of California, San Francisco
Collaborator:	National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by:	University of California, San Francisco
ClinicalTrials.gov Identifier:	NCT00552045

Purpose

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

Condition
Epilepsy Localization-Related Epilepsy Infantile Spasms Lennox-Gastaut Syndrome Polymicrogyria Periventricular Heterotopias

Study Type:	Observational
Study Design:	Case Control, Prospective
Official Title:	Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy

Resource links provided by NLM:

Genetics Home Reference related topics: autosomal dominant partial epilepsy with auditory features periventricular heterotopia polymicrogyria pyridoxal 5'-phosphate-dependent epilepsy

MedlinePlus related topics: Epilepsy

U.S. FDA Resources

Further study details as provided by University of California, San Francisco:

Primary Outcome Measures:

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 ] [ Designated as safety issue: No ]

Biospecimen Retention: Samples With DNA

Biospecimen Description:

whole blood

Estimated Enrollment:	5250
Study Start Date:	November 2007
Estimated Study Completion Date:	November 2011
Estimated Primary Completion Date:	November 2011 (Final data collection date for primary outcome measure)

Groups/Cohorts
subject individuals with epilepsy

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, national, 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 controls (persons without epilepsy), and to compare the phenotypic information with genomic information. EPGP will provide a national 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.

Eligibility

Ages Eligible for Study:	up to 60 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

EPGP will recruit persons with specific forms of epilepsy.

Criteria

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 30 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 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).

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00552045

Contacts

Contact: Katie McGovern	1-888-279-3747	info@epgp.org
Contact: Toll-free	1-888-279-EPGP

Locations

United States, Alabama
University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312	Recruiting
Birmingham, Alabama, United States, 35294
Contact: Robert Knowlton, M.D. 205-934-3866 knowlton@uab.edu
United States, California
University of California, San Francisco, 400 Parnassus, Room 847	Recruiting
San Francisco, California, United States, 94143-0114
Contact: Daniel Lowenstein, M.D. 415-502-2365 lowenstein@medsch.ucsf.edu
United States, Georgia
Emory School of Medicine, 1365 Clifton Road NE, Suite A3446	Recruiting
Atlanta, Georgia, United States, 30322
Contact: Sandra L Helmers, M.D. 404-778-5943 Sandra_helmers@emoryhealthcare.org
United States, Illinois
Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway	Recruiting
Chicago, Illinois, United States, 60612-3833
Contact: Michael Smith, M.D. 312-942-5939 msmith@rush.edu
United States, Maryland
Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street	Recruiting
Baltimore, Maryland, United States, 21287-0001
Contact: Eileen G Vining, M.D. 410-955-9100 evining@jhmi.edu
United States, Massachusetts
Children's Hospital Boston, 300 Longwood Ave.	Not yet recruiting
Boston, Massachusetts, United States, 02115
Contact: Annapurna Poduri, M.D., M.P.H. 617-355-7919 Annapurna.Poduri@childrens.harvard.edu
United States, Michigan
University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place	Recruiting
Ann Arbor, Michigan, United States, 48109-2200
Contact: Simon Glynn, M.D. 734-936-9030 simongly@med.umich.edu
United States, Minnesota
Mayo Clinic College of Medicine, 200 First St., SW	Recruiting
Rochester, Minnesota, United States, 55905
Contact: Gregory Cascino, M.D. gcascino@mayo.edu
United States, New Jersey
Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415	Recruiting
West Orange, New Jersey, United States, 07052
Contact: Peter Widdess-Walsh, M.D. 973-322-7117 pwiddesswalsh@sbhcs.com
United States, New York
Albert Einstein College of Medicine, 111 East 210th St.	Recruiting
Bronx, New York, United States, 10467
Contact: Sheryl Haut, M.D. 718-920-4378 haut@aecom.yu.edu
Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)	Active, not recruiting
New York, New York, United States, 10032
Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor	Recruiting
New York, New York, United States, 10016
Contact: Orrin Devinsky, M.D. 212-263-8870 od4@nyu.edu
United States, Ohio
Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue	Recruiting
Cincinnati, Ohio, United States, 45229-3026
Contact: Tracy Glauser, M.D. 513-636-4222 tracy.glauser@cchmc.org
United States, Pennsylvania
Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg—Neurology	Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Dennis Dlugos, M.D. 215-590-1719 dlugos@email.chop.edu
United States, Texas
University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr. MSC: 7883	Recruiting
San Antonio, Texas, United States, 78229-3900
Contact: Jose Cavazos, MD 210-617-5300 ext 17158 CAVAZOSJ@uthscsa.edu

Sponsors and Collaborators

University of California, San Francisco

National Institute of Neurological Disorders and Stroke (NINDS)

Investigators

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

More Information

Additional Information:

EPGP website This link exits the ClinicalTrials.gov site

No publications provided

Responsible Party:	University of California, San Francisco, Department of Neurology ( Daniel Lowenstein, MD, Professor of Neurology and Director, Physician-Scientist Education and Training Programs )
Study ID Numbers:	1R01NS053998-01A1, CRC
Study First Received:	October 30, 2007
Last Updated:	June 10, 2009
ClinicalTrials.gov Identifier:	NCT00552045 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by University of California, San Francisco:

epilepsy
localization-related epilepsy
idiopathic generalized epilepsy
infantile spasms
Lennox-Gastaut syndrome
polymicrogyria

periventricular heterotopias
malformations of cortical development
phenome
genome
genotype
phenotype

Additional relevant MeSH terms:

Epilepsies, Partial
Pathological Conditions, Anatomical
Choristoma
Hemiplegia
Spasms, Infantile
Disease
Nervous System Malformations
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases

Paralysis
Signs and Symptoms
Pathologic Processes
Epilepsy
Syndrome
Neurologic Manifestations
Congenital Abnormalities
Malformations of Cortical Development
Epilepsy, Generalized

ClinicalTrials.gov processed this record on November 09, 2009