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
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|Condition or disease|
|Epilepsy Localization-related Epilepsy Infantile Spasms Lennox-Gastaut Syndrome Polymicrogyria Periventricular Heterotopias|
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|
|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
- 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
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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|
- 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).
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
|Principal Investigator:||Daniel Lowenstein, MD||University of California, San Francisco, Department of Neurology|
|Principal Investigator:||Ruben Kuzniecky, MD||New York University, Comprehensive Epilepsy Center|
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||University of California, San Francisco|
|Other Study ID Numbers:||
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|
idiopathic generalized epilepsy
malformations of cortical development
Lennox Gastaut Syndrome
Periventricular Nodular Heterotopia
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Malformations of Cortical Development, Group III
Malformations of Cortical Development
Nervous System Malformations
Pathological Conditions, Anatomical
Malformations of Cortical Development, Group II