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View Clinical Trial (Medical Research Study)
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Epilepsy Phenome/Genome Project - NCT00552045-02115 (Clinical Trial 189353)
Permalink: http://www.ClinicalConnection.com/exp/ExpandedPatientViewStudy189353.aspx
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| City: |
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Boston |
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State:
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MA |
| Zip Code: |
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02115 |
| Conditions: |
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Epilepsy - Localization-Related Epilepsy - Infantile Spasms - Lennox-Gastaut Syndrome - Polymicrogyria - Periventricular Heterotopias |
| Purpose: |
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The purpose of this study is to collect detailed information about the characteristics and
genetics of a large number of individuals with epilepsy.
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| Study summary: |
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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. |
| Criteria: |
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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 30 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 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). |
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| Study is available at: |
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Children's Hospital Boston, 300 Longwood Ave.
Boston, MA 02115
United States
Primary Contact:
Annapurna Poduri, M.D., M.P.H.
Email: Annapurna.Poduri@childrens.harvard.edu
Phone: 617-355-7919
Secondary Contact:
Katie McGovern
Email: info@epgp.org
Phone: 1-888-279-3747 |
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If you are interested in this clinical trial please use the contact information above. If you would like to get additional information about this clinical trial please visit ClinicalTrials.gov.
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| Data Source: |
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ClinicalTrials.gov |
| Date Processed: |
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March 15, 2010 |
Modifications to
this listing: |
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Only selected fields are shown, please use the link
above to view all information about this clinical trial. |
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Clinical trials are medical research studies designed to test the safety and/or
effectiveness of new drugs, devices, or treatments in humans. These studies are
conducted worldwide for a range of conditions and illnesses. Learn more about
clinical research and participating in a study at
About Clinical Trials.
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