Epilepsy Phenome/Genome Project (EPGP)
This study is ongoing, but not recruiting participants.
Sponsor:
University of California, San Francisco
Collaborator:
Information provided by (Responsible Party):
University of California, San Francisco
ClinicalTrials.gov Identifier:
NCT00552045
First received: October 30, 2007
Last updated: December 13, 2012
Last verified: December 2012
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Purpose
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.
| Condition |
|---|
|
Epilepsy Localization-related Epilepsy Infantile Spasms Lennox-Gastaut Syndrome Polymicrogyria Periventricular Heterotopias |
| Study Type: | Observational |
| Study Design: | Observational Model: Case Control Time Perspective: Prospective |
| Official Title: | Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy |
Resource links provided by NLM:
Genetics Home Reference related topics:
autosomal dominant partial epilepsy with auditory features
Lennox-Gastaut syndrome
periventricular heterotopia
polymicrogyria
pyridoxal 5'-phosphate-dependent epilepsy
pyridoxine-dependent epilepsy
X-linked infantile spasm syndrome
MedlinePlus related topics:
Epilepsy
U.S. FDA Resources
Further study details as provided by University of California, San Francisco:
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. [ Time Frame: over 4.5 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
whole blood
| Estimated Enrollment: | 5250 |
| Study Start Date: | November 2007 |
| Estimated Study Completion Date: | December 2013 |
| Estimated Primary Completion Date: | December 2012 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
subject
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| Ages Eligible for Study: | up to 60 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Study Population
EPGP will recruit persons with specific forms of epilepsy.
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).
Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00552045
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Hide Study LocationsLocations
| United States, Alabama | |
| University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312 | |
| Birmingham, Alabama, United States, 35294 | |
| United States, Arizona | |
| Mayo Clinic College of Medicine Arizona | |
| Phoenix, Arizona, United States, 85054 | |
| United States, California | |
| University of California, San Francisco, 400 Parnassus, Room 847 | |
| San Francisco, California, United States, 94143-0114 | |
| United States, Colorado | |
| The Children's Hospital | |
| Denver, Colorado, United States, 80045 | |
| United States, Florida | |
| Mayo Clinic College of Medicine Florida | |
| Jacksonville, Florida, United States, 32224 | |
| United States, Illinois | |
| Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway | |
| Chicago, Illinois, United States, 60612-3833 | |
| United States, Maryland | |
| Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street | |
| Baltimore, Maryland, United States, 21287-0001 | |
| United States, Massachusetts | |
| Children's Hospital Boston, 300 Longwood Ave. | |
| Boston, Massachusetts, United States, 02115 | |
| United States, Michigan | |
| University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place | |
| Ann Arbor, Michigan, United States, 48109-2200 | |
| United States, Minnesota | |
| Mayo Clinic College of Medicine, 200 First St., SW | |
| Rochester, Minnesota, United States, 55905 | |
| United States, Missouri | |
| Washington University | |
| St. Louis, Missouri, United States, 63110 | |
| United States, New Jersey | |
| Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415 | |
| West Orange, New Jersey, United States, 07052 | |
| United States, New York | |
| Albert Einstein College of Medicine, 111 East 210th St. | |
| Bronx, New York, United States, 10467 | |
| Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment) | |
| New York, New York, United States, 10032 | |
| Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor | |
| New York, New York, United States, 10016 | |
| United States, Ohio | |
| Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue | |
| Cincinnati, Ohio, United States, 45229-3026 | |
| Cleveland Clinic | |
| Cleveland, Ohio, United States, 44195 | |
| United States, Pennsylvania | |
| Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg—Neurology | |
| Philadelphia, Pennsylvania, United States, 19104 | |
| Children's Hospital of Pittsburgh of UPMC | |
| Pittsburgh, Pennsylvania, United States, 15201 | |
| United States, Tennessee | |
| Vanderbilt University Medical Center | |
| Nashville, Tennessee, United States, 37232 | |
| United States, Texas | |
| University of Texas Health Science Center at Houston | |
| Houston, Texas, United States, 77030 | |
| United States, Virginia | |
| University of Virginia Health System | |
| Charlottesville, Virginia, United States, 22903 | |
| United States, Washington | |
| Seattle Children's Hospital | |
| Seattle, Washington, United States, 98105 | |
| Argentina | |
| Hospital General Agudos Jose Maria Ramos Mejia | |
| Buenos Aires, Argentina | |
| Australia, Victoria | |
| University of Melbourne | |
| Melbourne, Victoria, Australia, 3081 | |
Sponsors and Collaborators
University of California, San Francisco
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 |
More Information
Additional Information:
No publications provided
| Responsible Party: | University of California, San Francisco |
| ClinicalTrials.gov Identifier: | NCT00552045 History of Changes |
| Other Study ID Numbers: | 1R01NS053998-01A1, CRC, 1R01NS053998 |
| Study First Received: | October 30, 2007 |
| Last Updated: | December 13, 2012 |
| Health Authority: | United States: Federal Government |
Keywords provided by University of California, San Francisco:
|
epilepsy localization-related epilepsy idiopathic generalized epilepsy infantile spasms Lennox-Gastaut syndrome polymicrogyria |
periventricular heterotopias malformations of cortical development phenome genome genotype phenotype |
Additional relevant MeSH terms:
|
Choristoma Epilepsy Epilepsies, Partial Spasm Spasms, Infantile Mental Retardation Malformations of Cortical Development Periventricular Nodular Heterotopia Pathological Conditions, Anatomical Brain Diseases Central Nervous System Diseases |
Nervous System Diseases Neuromuscular Manifestations Neurologic Manifestations Signs and Symptoms Epilepsy, Generalized Neurobehavioral Manifestations Mental Disorders Diagnosed in Childhood Mental Disorders Nervous System Malformations Congenital Abnormalities Neuronal Migration Disorders |
ClinicalTrials.gov processed this record on May 19, 2013