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:	Observational Model: Case Control Time Perspective: 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 Lennox-Gastaut syndrome polymicrogyria pyridoxal 5'-phosphate-dependent epilepsy Help Me Understand Genetics

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

whole blood

Estimated Enrollment:	5250
Study Start Date:	November 2007
Estimated Study Completion Date:	April 2012
Estimated Primary Completion Date:	April 2012 (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, 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.

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 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).

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

Show 25 Study Locations

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:	Daniel Lowenstein, MD, Professor of Neurology and Director, Physician-Scientist Education and Training Programs, University of California, San Francisco, Department of Neurology
ClinicalTrials.gov Identifier:	NCT00552045 History of Changes
Other Study ID Numbers:	1R01NS053998-01A1, CRC, 1R01NS053998
Study First Received:	October 30, 2007
Last Updated:	September 21, 2011
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:

Choristoma
Epilepsy
Epilepsies, Partial
Spasm
Spasms, Infantile
Mental Retardation
Malformations of Cortical Development
Periventricular Nodular Heterotopia
Pathological Conditions, Anatomical
Brain Diseases
Central Nervous System Diseases

Nervous System Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Signs and Symptoms
Epilepsy, Generalized
Neurobehavioral Manifestations
Mental Disorders Diagnosed in Childhood
Mental Disorders
Nervous System Malformations
Congenital Abnormalities
Neuronal Migration Disorders

ClinicalTrials.gov processed this record on February 09, 2012