Epilepsy Phenome/Genome Project

Epilepsy Clinical Trial

— EPGP  

Official title:

Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00552045
• Other study ID #: 1R01NS053998-01A1
• Secondary ID: CRC1R01NS053998
• Status: Completed
• Start date: November 2007
• Est. completion date: October 2018

Study information

• Verified date: November 2018
• Source: University of California, San Francisco
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4150
• Est. completion date: October 2018
• Est. primary completion date: December 2013
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 60 Years

Eligibility

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).

Related Conditions & MeSH terms

• Epilepsies, Partial
• Epilepsy
• Infantile Spasms
• Lennox Gastaut Syndrome
• Lennox-Gastaut Syndrome
• Localization-related Epilepsy
• Periventricular Heterotopias
• Polymicrogyria
• Spasms, Infantile

Locations

Country	Name	City	State
Argentina	Hospital General Agudos Jose Maria Ramos Mejia	Buenos Aires
Australia	University of Melbourne	Melbourne	Victoria
United States	University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place	Ann Arbor	Michigan
United States	Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street	Baltimore	Maryland
United States	University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312	Birmingham	Alabama
United States	Children's Hospital Boston, 300 Longwood Ave.	Boston	Massachusetts
United States	Albert Einstein College of Medicine, 111 East 210th St.	Bronx	New York
United States	University of Virginia Health System	Charlottesville	Virginia
United States	Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway	Chicago	Illinois
United States	Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue	Cincinnati	Ohio
United States	Cleveland Clinic	Cleveland	Ohio
United States	The Children's Hospital	Denver	Colorado
United States	University of Texas Health Science Center at Houston	Houston	Texas
United States	Mayo Clinic College of Medicine Florida	Jacksonville	Florida
United States	Vanderbilt University Medical Center	Nashville	Tennessee
United States	Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor	New York	New York
United States	Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)	New York	New York
United States	Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg—Neurology	Philadelphia	Pennsylvania
United States	Mayo Clinic College of Medicine Arizona	Phoenix	Arizona
United States	Children's Hospital of Pittsburgh of UPMC	Pittsburgh	Pennsylvania
United States	Mayo Clinic College of Medicine, 200 First St., SW	Rochester	Minnesota
United States	Washington University	Saint Louis	Missouri
United States	University of California, San Francisco, 400 Parnassus, Room 847	San Francisco	California
United States	Seattle Children's Hospital	Seattle	Washington
United States	Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415	West Orange	New Jersey

Sponsors (2)

Lead Sponsor	Collaborator
University of California, San Francisco	National Institute of Neurological Disorders and Stroke (NINDS)

Countries where clinical trial is conducted

United States,  Argentina,  Australia, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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

External Links

•   EPGP website