EPGP: Epilepsy Phenome/Genome Project

Sponsor

University of California, San Francisco (Other)

Overall Status

Completed

CT.gov ID

NCT00552045

Collaborator

National Institute of Neurological Disorders and Stroke (NINDS) (NIH)

4,150

Enrollment

Locations

131

Duration (Months)

166

Patients Per Site

1.3

Patients Per Site Per Month

Study Details

Study Description

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	Intervention/Treatment	Phase
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.

Study Design

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 :

Nov 1, 2007

Actual Primary Completion Date :

Dec 1, 2013

Actual Study Completion Date :

Oct 1, 2018

Arms and Interventions

Arm	Intervention/Treatment
subject individuals with epilepsy

Outcome Measures

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. [over 4.5 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

4 Weeks to 60 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312	Birmingham	Alabama	United States	35294
2	Mayo Clinic College of Medicine Arizona	Phoenix	Arizona	United States	85054
3	University of California, San Francisco, 400 Parnassus, Room 847	San Francisco	California	United States	94143-0114
4	The Children's Hospital	Denver	Colorado	United States	80045
5	Mayo Clinic College of Medicine Florida	Jacksonville	Florida	United States	32224
6	Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway	Chicago	Illinois	United States	60612-3833
7	Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street	Baltimore	Maryland	United States	21287-0001
8	Children's Hospital Boston, 300 Longwood Ave.	Boston	Massachusetts	United States	02115
9	University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place	Ann Arbor	Michigan	United States	48109-2200
10	Mayo Clinic College of Medicine, 200 First St., SW	Rochester	Minnesota	United States	55905
11	Washington University	Saint Louis	Missouri	United States	63110
12	Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415	West Orange	New Jersey	United States	07052
13	Albert Einstein College of Medicine, 111 East 210th St.	Bronx	New York	United States	10467
14	Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor	New York	New York	United States	10016
15	Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)	New York	New York	United States	10032
16	Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue	Cincinnati	Ohio	United States	45229-3026
17	Cleveland Clinic	Cleveland	Ohio	United States	44195
18	Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg-Neurology	Philadelphia	Pennsylvania	United States	19104
19	Children's Hospital of Pittsburgh of UPMC	Pittsburgh	Pennsylvania	United States	15201
20	Vanderbilt University Medical Center	Nashville	Tennessee	United States	37232
21	University of Texas Health Science Center at Houston	Houston	Texas	United States	77030
22	University of Virginia Health System	Charlottesville	Virginia	United States	22903
23	Seattle Children's Hospital	Seattle	Washington	United States	98105
24	Hospital General Agudos Jose Maria Ramos Mejia	Buenos Aires		Argentina
25	University of Melbourne	Melbourne	Victoria	Australia	3081

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