Epilepsy Phenome/Genome Project (EPGP)

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
Information provided by (Responsible Party):
University of California, San Francisco
ClinicalTrials.gov Identifier:
NCT00552045
First received: October 30, 2007
Last updated: January 15, 2014
Last verified: January 2014
  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:


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


Enrollment: 4150
Study Start Date: November 2007
Estimated Study Completion Date: April 2014
Primary Completion Date: December 2013 (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

  Show 25 Study Locations
Sponsors and Collaborators
University of California, San Francisco
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:
No publications provided

Responsible Party: University of California, San Francisco
ClinicalTrials.gov Identifier: NCT00552045     History of Changes
Other Study ID Numbers: 1R01NS053998-01A1, CRC, 1R01NS053998
Study First Received: October 30, 2007
Last Updated: January 15, 2014
Health Authority: United States: Federal Government

Keywords provided by University of California, San Francisco:
infantile spasms
epilepsy
localization-related epilepsy
idiopathic generalized epilepsy
Lennox-Gastaut syndrome
polymicrogyria
periventricular heterotopias
malformations of cortical development
phenome
genome
genotype
phenotype

Additional relevant MeSH terms:
Spasm
Spasms, Infantile
Choristoma
Epilepsy
Epilepsies, Partial
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 April 17, 2014