- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02824822
Genetic Markers of Cardiovascular Disease in Epilepsy
Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.
Study Overview
Status
Conditions
Detailed Description
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Somers CPL Lab
- Email: CPL@mayo.edu
Study Locations
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Minnesota
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Rochester, Minnesota, United States, 55905
- Recruiting
- Mayo Clinic
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Sub-Investigator:
- Erik K St. Louis, MD
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Sub-Investigator:
- Anwar A Chahal, MD MRCP
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Sub-Investigator:
- Michael J Ackerman, MD PhD
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Sub-Investigator:
- Peter A Brady, MD FRCP FHRS
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
- Adults ages 18 - 50 with a diagnosis of epilepsy or seizures, or syncope or drowning or cardiac arrest or sudden death or an abnormal ECG suggestive of an arrhythmia
- Blood-relatives (Aged 18+) of a patient with a history of epilepsy, seizure, cardiac arrest, sudden death, drowning, syncope or arrhythmia
Exclusion Criteria:
- Those who are unable to provide written consent.
- Prisoners (vulnerable population)
- Seizures secondary to ischemic events
- Traumatic brain injury resulting in seizures
- History of cranial surgery
- History of brain tumor
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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High SUDEP risk cohort
Patients with epilepsy who have a high SUDEP-7 risk score and/or a blood-relative with epilepsy, seizure, cardiac arrest, sudden death, drowning/near-drowning, syncope or arrhythmia.
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Low SUDEP risk cohort
Patients with epilepsy and a low SUDEP-7 score.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Using Next Generation Whole-Exome Sequencing, determine if an underlying genetic cardiac mutation is present in refractory epilepsy patients who are at highest risk of sudden death.
Time Frame: 3-5 years
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SUDEP-7 is a risk profiling tool, with a score ranging from 0-12. Generally, a score greater than or equal to 3 is considered high risk. The investigators will select participants with a family history of epilepsy, seizures, cardiac arrest, sudden death, drowning, syncope or arrhythmia, as this markedly increases genetic yield. Next Generation Whole-Exome Sequencing will be performed with a focus on known genes implicated in sudden unexpected death syndromes (channelopathies, cardiomyopathies and aortopathies) and autonomic control. Where relevant, blood-relatives may be invited for genomic 'trio' analyses. |
3-5 years
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Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Virend K. Somers, MD PhD, Mayo Clinic
Publications and helpful links
Helpful Links
Study record dates
Study Major Dates
Study Start
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimated)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Death, Sudden
- Death
- Unconsciousness
- Consciousness Disorders
- Epilepsy
- Cardiovascular Diseases
- Seizures
- Cardiomyopathies
- Syncope
- Channelopathies
- Sudden Unexpected Death in Epilepsy
Other Study ID Numbers
- 15-002420
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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