Epilepsy Phenome/Genome Project

NCT00552045 | Completed DMC

• 3 other identifiers: 1R01NS053998-01A1CRC1R01NS053998
• Study Type: observational
• Target: 4,150
• Locations: 3 countries
• Sites: 25

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.

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

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

subject

individuals with epilepsy

Eligibility Criteria

• Age: 4 Weeks - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

EPGP will recruit persons with specific forms of epilepsy.

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• University of California, San Francisco: lead
• National Institute of Neurological Disorders and Stroke (NINDS): collaborator

Study Sites (25)

University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312

Birmingham, Alabama, 35294, United States

Location

Mayo Clinic College of Medicine Arizona

Phoenix, Arizona, 85054, United States

Location

University of California, San Francisco, 400 Parnassus, Room 847

San Francisco, California, 94143-0114, United States

Location

The Children's Hospital

Denver, Colorado, 80045, United States

Location

Mayo Clinic College of Medicine Florida

Jacksonville, Florida, 32224, United States

Location

Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway

Chicago, Illinois, 60612-3833, United States

Location

Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street

Baltimore, Maryland, 21287-0001, United States

Location

Children's Hospital Boston, 300 Longwood Ave.

Boston, Massachusetts, 02115, United States

Location

University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place

Ann Arbor, Michigan, 48109-2200, United States

Location

Mayo Clinic College of Medicine, 200 First St., SW

Rochester, Minnesota, 55905, United States

Location

Washington University

St Louis, Missouri, 63110, United States

Location

Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415

West Orange, New Jersey, 07052, United States

Location

Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor

New York, New York, 10016, United States

Location

Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment)

New York, New York, 10032, United States

Location

Albert Einstein College of Medicine, 111 East 210th St.

The Bronx, New York, 10467, United States

Location

Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue

Cincinnati, Ohio, 45229-3026, United States

Location

Cleveland Clinic

Cleveland, Ohio, 44195, United States

Location

Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg-Neurology

Philadelphia, Pennsylvania, 19104, United States

Location

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15201, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

University of Texas Health Science Center at Houston

Houston, Texas, 77030, United States

Location

University of Virginia Health System

Charlottesville, Virginia, 22903, United States

Location

Seattle Children's Hospital

Seattle, Washington, 98105, United States

Location

Hospital General Agudos Jose Maria Ramos Mejia

Buenos Aires, Argentina

Location

University of Melbourne

Melbourne, Victoria, 3081, Australia

Location

Related Publications (1)

• 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.

  PMID: 32917807 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

whole blood

MeSH Terms

Conditions

Epilepsy; Epilepsies, Partial; Spasms, Infantile; Lennox Gastaut Syndrome; Polymicrogyria; Periventricular Nodular Heterotopia; Epilepsy, Idiopathic Generalized; Malformations of Cortical Development

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epilepsy, Generalized; Epileptic Syndromes; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Malformations of Cortical Development, Group III; Nervous System Malformations; Congenital Abnormalities; Malformations of Cortical Development, Group II

Study Officials

• Daniel Lowenstein, MD

  University of California, San Francisco, Department of Neurology

  PRINCIPAL INVESTIGATOR

• Ruben Kuzniecky, MD

  New York University, Comprehensive Epilepsy Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 30, 2007
• First Posted: November 1, 2007
• Study Start: November 1, 2007
• Primary Completion: December 1, 2013
• Study Completion: October 1, 2018
• Last Updated: November 13, 2018

Record last verified: 2018-11

Locations

AR (1); AU (1); US (23)