Clinical trial NCT00552045: Epilepsy Phenome/Genome Project
Official title: Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Epilepsy
Localization-related Epilepsy
Infantile Spasms
Lennox-Gastaut Syndrome
Polymicrogyria
Periventricular Heterotopias
Keywords: epilepsy
localization-related epilepsy
idiopathic generalized epilepsy
infantile spasms
Lennox-Gastaut syndrome
polymicrogyria
periventricular heterotopias
malformations of cortical development
phenome
genome
genotype
phenotype
Lead sponsor: University of California, San Francisco
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2007-11-01
Enrollment: 4150
Sex: ALL
Minimum age (years): 4
Maximum age (years): 60
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: EPGP will recruit persons with specific forms of epilepsy.

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.

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 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).

Primary outcomes:
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.
timeFrame: over 4.5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312
state: Alabama
city: Phoenix
country: United States
facility: Mayo Clinic College of Medicine Arizona
state: Arizona
city: San Francisco
country: United States
facility: University of California, San Francisco, 400 Parnassus, Room 847
state: California
city: Denver
country: United States
facility: The Children's Hospital
state: Colorado
city: Jacksonville
country: United States
facility: Mayo Clinic College of Medicine Florida
state: Florida
city: Chicago
country: United States
facility: Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway
state: Illinois
city: Baltimore
country: United States
facility: Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street
state: Maryland
city: Boston
country: United States
facility: Children's Hospital Boston, 300 Longwood Ave.
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place
state: Michigan
city: Rochester
country: United States
facility: Mayo Clinic College of Medicine, 200 First St., SW
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University
state: Missouri
city: West Orange
country: United States
facility: Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415
state: New Jersey
city: Bronx
country: United States
facility: Albert Einstein College of Medicine, 111 East 210th St.
state: New York
city: New York
country: United States
facility: Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor
state: New York
city: New York
country: United States
facility: Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue
state: Ohio
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg-Neurology
state: Pennsylvania
city: Pittsburgh
country: United States
facility: Children's Hospital of Pittsburgh of UPMC
state: Pennsylvania
city: Nashville
country: United States
facility: Vanderbilt University Medical Center
state: Tennessee
city: Houston
country: United States
facility: University of Texas Health Science Center at Houston
state: Texas
city: Charlottesville
country: United States
facility: University of Virginia Health System
state: Virginia
city: Seattle
country: United States
facility: Seattle Children's Hospital
state: Washington
city: Buenos Aires
country: Argentina
facility: Hospital General Agudos Jose Maria Ramos Mejia
city: Melbourne
country: Australia
facility: University of Melbourne
state: Victoria
Study officials:
affiliation: University of California, San Francisco, Department of Neurology
name: Daniel Lowenstein, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: New York University, Comprehensive Epilepsy Center
name: Ruben Kuzniecky, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Weisenberg JLZ, Fitzgerald RT, Constantino JN, Winawer MR, Thio LL; EPGP Investigators. Familial aggregation of status epilepticus in generalized and focal epilepsies. Neurology. 2020 Oct 13;95(15):e2140-e2149. doi: 10.1212/WNL.0000000000010708. Epub 2020 Sep 11.