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Epilepsy Phenome/Genome Project (EPGP)

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ClinicalTrials.gov 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
Information provided by (Responsible Party):

October 30, 2007
November 1, 2007
January 16, 2014
November 2007
December 2013   (Final data collection date for primary outcome measure)
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 ]
EPGP will recruit persons with specific forms of epilepsy and controls without 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 ]
Complete list of historical versions of study NCT00552045 on ClinicalTrials.gov Archive Site
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Epilepsy Phenome/Genome Project
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.

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.

Observational Model: Case Control
Time Perspective: Prospective
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Retention:   Samples With DNA
whole blood
Non-Probability Sample
EPGP will recruit persons with specific forms of epilepsy.
  • Epilepsy
  • Localization-related Epilepsy
  • Infantile Spasms
  • Lennox-Gastaut Syndrome
  • Polymicrogyria
  • Periventricular Heterotopias
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individuals with epilepsy
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
Unknown status
April 2014
December 2013   (Final data collection date for primary outcome measure)

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).
Sexes Eligible for Study: All
up to 60 Years   (Child, Adult)
Contact information is only displayed when the study is recruiting subjects
Argentina,   Australia,   United States
1R01NS053998 ( Other Identifier: This is an NIH grant number, but it will not accept it as one. )
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University of California, San Francisco
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
University of California, San Francisco
January 2014