Epilepsy Phenome/Genome Project

Completed

Conditions studied: Epilepsy, Localization-related Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Polymicrogyria, Periventricular Heterotopias

In brief

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

Key facts

Study ID

NCT00552045

Run by

University of California, San Francisco

People needed

4150

Starts

2007-11-01

Expected to finish

2018-10-01

Last updated by the study team

2018-11-13

Who can join

Age: 0 and older, up to 60. Sex: any. Healthy volunteers: not accepted.

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).

Where it is running

• University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312 — Birmingham, Alabama, United States
• Mayo Clinic College of Medicine Arizona — Phoenix, Arizona, United States
• University of California, San Francisco, 400 Parnassus, Room 847 — San Francisco, California, United States
• The Children's Hospital — Denver, Colorado, United States
• Mayo Clinic College of Medicine Florida — Jacksonville, Florida, United States
• Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway — Chicago, Illinois, United States
• Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street — Baltimore, Maryland, United States
• Children's Hospital Boston, 300 Longwood Ave. — Boston, Massachusetts, United States
• University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place — Ann Arbor, Michigan, United States
• Mayo Clinic College of Medicine, 200 First St., SW — Rochester, Minnesota, United States
• Washington University — St Louis, Missouri, United States
• Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415 — West Orange, New Jersey, 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
• Albert Einstein College of Medicine, 111 East 210th St. — The Bronx, New York, United States
• Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue — Cincinnati, Ohio, United States
• Cleveland Clinic — Cleveland, Ohio, United States
• Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg-Neurology — Philadelphia, Pennsylvania, United States
• Children's Hospital of Pittsburgh of UPMC — Pittsburgh, Pennsylvania, United States
• Vanderbilt University Medical Center — Nashville, Tennessee, United States
• University of Texas Health Science Center at Houston — Houston, Texas, United States
• University of Virginia Health System — Charlottesville, Virginia, United States
• Seattle Children's Hospital — Seattle, Washington, United States
• Hospital General Agudos Jose Maria Ramos Mejia — Buenos Aires, Argentina
• University of Melbourne — Melbourne, Victoria, Australia

Full record on ClinicalTrials.gov

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