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Epilepsy Phenome/Genome Project (EPGP)

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ClinicalTrials.gov Identifier: NCT00552045
Recruitment Status : Completed
First Posted : November 1, 2007
Last Update Posted : November 13, 2018
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.

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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
Actual Study Completion Date : October 2018

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:   4 Weeks 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 ClinicalTrials.gov identifier (NCT number): NCT00552045

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Sponsors and Collaborators
University of California, San Francisco
National Institute of Neurological Disorders and Stroke (NINDS)
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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:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: University of California, San Francisco
ClinicalTrials.gov Identifier: NCT00552045    
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: November 13, 2018
Last Verified: November 2018
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:
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Lennox Gastaut Syndrome
Spasms, Infantile
Epilepsies, Partial
Periventricular Nodular Heterotopia
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Epileptic Syndromes
Genetic Diseases, Inborn
Epilepsy, Generalized
Malformations of Cortical Development, Group III
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities
Pathological Conditions, Anatomical
Malformations of Cortical Development, Group II