Study 12 of 44 for search of: "Spasm"
Previous Study Return to Search Results Next Study

  Full Text View  
  Tabular View  
  Contacts and Locations  
  No Study Results Posted  
  Related Studies  
Epilepsy Phenome/Genome Project (EPGP)
This study is currently recruiting participants.
Verified by National Institute of Neurological Disorders and Stroke (NINDS), August 2008
Sponsors and Collaborators: University of California, San Francisco
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by: National Institute of Neurological Disorders and Stroke (NINDS)
ClinicalTrials.gov Identifier: NCT00552045
  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

Genetics Home Reference related topics: autosomal dominant partial epilepsy with auditory features pyridoxal 5'-phosphate-dependent epilepsy
MedlinePlus related topics: Epilepsy
U.S. FDA Resources
Study Type: Observational
Study Design: Case Control, Prospective
Official Title: Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy

Further study details as provided by National Institute of Neurological Disorders and Stroke (NINDS):

Primary Outcome Measures:
  • EPGP will recruit persons with specific forms of epilepsy and controls without 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

Biospecimen Description:

whole blood


Estimated Enrollment: 6750
Study Start Date: November 2007
Estimated Study Completion Date: November 2011
Estimated Primary Completion Date: November 2011 (Final data collection date for primary outcome measure)
Groups/Cohorts
subject
individuals with epilepsy
control
individuals without 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, national, 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 controls (persons without epilepsy), and to compare the phenotypic information with genomic information. EPGP will provide a national 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:   Yes
Sampling Method:   Non-Probability Sample
Study Population

EPGP will recruit persons with specific forms of epilepsy and controls without epilepsy.

Criteria

Inclusion Criteria:

Subjects:

  • 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 30 years.
  • High quality clinical and laboratory data (i.e., neuroimaging, EEG) must be available throughout the patient's history:

    • For patients with epilepsy onset less than two years prior to study entry, all medical records related to the epilepsy history must be available.
    • For patients with epilepsy onset more than two years prior to study entry, original records regarding history, EEG, and imaging data must be available for the two years preceding study entry.
  • All patients with localization-related epilepsy (LRE) or idiopathic generalized epilepsy (IGE) must have a 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.

Controls

  • Current age from 4 weeks to 60 years

Exclusion Criteria:

Subjects:

  • 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).

Controls:

  • History of epilepsy or epileptic seizures, including febrile or acute symptomatic.
  • History of a potential antecedent cause of epilepsy (i.e., a structural or metabolic insult to the CNS, 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.
  • First-degree relative with epilepsy.
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00552045

Contacts
Contact: Kristen Schardein 415-476-4495 kristen.schardein@ucsf.edu
Contact: Kristen Schardein--toll free 1-888-279-EPGP

Locations
United States, Alabama
University of Alabama at Birmingham, Epilepsy Center, 1719 6th Ave S, CIRC, Ste 312 Recruiting
Birmingham, Alabama, United States, 35294
Contact: Robert Knowlton, M.D.     205-934-3866     knowlton@uab.edu    
United States, California
University of California, San Francisco, 400 Parnassus, Room 847 Recruiting
San Francisco, California, United States, 94143-0114
Contact: Daniel Lowenstein, M.D.     415-502-2365     lowenstein@medsch.ucsf.edu    
United States, Georgia
Emory School of Medicine, 1365 Clifton Road NE, Suite A3446 Recruiting
Atlanta, Georgia, United States, 30322
Contact: Sandra L Helmers, M.D.     404-778-5943     Sandra_helmers@emoryhealthcare.org    
United States, Illinois
Rush Presbyterian St. Luke's Medical Center, 1653 West Congress Parkway Recruiting
Chicago, Illinois, United States, 60612-3833
Contact: Michael Smith, M.D.     312-942-5939     msmith@rush.edu    
United States, Maryland
Johns Hopkins University, Meyer 2-147, 600 North Wolfe Street Recruiting
Baltimore, Maryland, United States, 21287-0001
Contact: Eileen G Vining, M.D.     410-955-9100     evining@jhmi.edu    
United States, Michigan
University of Michigan Medical Center, Department of Neurology, 5021 BSRB, 109 Zina Pitcher Place Recruiting
Ann Arbor, Michigan, United States, 48109-2200
Contact: Lawrence Hudson, M.D.     734-936-7310     hudslawr@med.umich.edu    
United States, Minnesota
Mayo Clinic College of Medicine, 200 First St., SW Recruiting
Rochester, Minnesota, United States, 55905
Contact: Gregory Cascino, M.D.         gcascino@mayo.edu    
United States, New Jersey
Saint Barnabas Medical Center, Institute of Neurology, 101 Old Short Hills Road, 4th Floor, Suite #415 Recruiting
West Orange, New Jersey, United States, 07052
Contact: Eric Geller, M.D.     973-322-6227     egeller@sbhcs.com    
United States, New York
Albert Einstein College of Medicine, 111 East 210th St. Recruiting
Bronx, New York, United States, 10467
Contact: Sheryl Haut, M.D.     718-920-4378     haut@aecom.yu.edu    
Gertrude H. Sergievsky Center, Columbia University, 630 West 168th Street, P&S Box 16 (no patient enrollment) Active, not recruiting
New York, New York, United States, 10032
Comprehensive Epilepsy Center, NYU Medical Center, 403 E. 34th Street, 4th Floor Recruiting
New York, New York, United States, 10016
Contact: Orrin Devinsky, M.D.     212-263-8870     od4@nyu.edu    
United States, Ohio
Children's Hospital Medical Center, 3333 Burnet Avenue Recruiting
Cincinnati, Ohio, United States, 45229-3026
Contact: Tracy Glauser, M.D.     513-636-4222     tracy.glauser@cchmc.org    
United States, Pennsylvania
Children's Hospital of Philadelphia, 34th and Civic Center Blvd., 6th Floor Wood Bldg—Neurology Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Dennis Dlugos, M.D.     215-590-1719     dlugos@email.chop.edu    
United States, Texas
Baylor College of Medicine, One Baylor Plaza Recruiting
Houston, Texas, United States, 77030-3411
Contact: Eli Mizrahi, M.D.     713-790-3109     emizrahi@bcm.tmc.edu    
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

EPGP website  This link exits the ClinicalTrials.gov site

Responsible Party: University of California, San Francisco, Department of Neurology ( Daniel Lowenstein, MD, Professor of Neurology and Director, Physician-Scientist Education and Training Programs )
Study ID Numbers: 1R01NS053998-01A1, CRC
Study First Received: October 30, 2007
Last Updated: August 18, 2008
ClinicalTrials.gov Identifier: NCT00552045  
Health Authority: United States: Federal Government

Keywords provided by National Institute of Neurological Disorders and Stroke (NINDS):
epilepsy
localization-related epilepsy
idiopathic generalized epilepsy
infantile spasms
Lennox-Gastaut syndrome
malformations of cortical development
phenome
genome
genotype
phenotype

Study placed in the following topic categories:
Epilepsies, Partial
Spasm
Hemiplegia
Spasms, Infantile
West syndrome
Central Nervous System Diseases
Brain Diseases
Paralysis
Signs and Symptoms
Epilepsy
Epileptic encephalopathy, Lennox-Gastaut type
Cutis verticis gyrata
Neurologic Manifestations
Infantile spasms
Epilepsy, Generalized
Malformations of Cortical Development
Congenital Abnormalities

Additional relevant MeSH terms:
Pathologic Processes
Disease
Syndrome
Nervous System Diseases

ClinicalTrials.gov processed this record on January 16, 2009