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Genetic Markers of Cardiovascular Disease in Epilepsy

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ClinicalTrials.gov Identifier: NCT02824822
Recruitment Status : Recruiting
First Posted : July 7, 2016
Last Update Posted : July 29, 2022
American Heart Association
Information provided by (Responsible Party):
Virend Somers, MD, PhD, Mayo Clinic

Brief Summary:
Epilepsy is a common condition which affects over 3 million people in the US. Patients with uncontrolled epilepsy have a lifetime risk of sudden unexpected death (SUDEP) of 35%, which is greatest in those under 40 years of age. The exact mechanisms and causes are not understood but can be due to underlying conditions which affect the heart and brain, which may lead to dangerous heart rhythms and death. Some of these conditions which affect heart and brain have an identifiable genetic cause. This study aims to identify known genetic causes of heart rhythm and sudden death related disorders in patients with epilepsy.

Condition or disease
Epilepsy Seizures Syncope Channelopathy Cardiomyopathies

Detailed Description:
The overall goals are to determine whether patients with epilepsy who have the highest risk of SUDEP have an underlying genetic cardiovascular disorder. The investigators are seeking patients with epilepsy who have a high risk of SUDEP identified by using a risk scoring tool called SUDEP-7 and/or have blood-relatives with a history of epilepsy, seizure, cardiac arrest, sudden death, drowning/near-drowning, syncope or heart rhythm disorder. The investigators may also include blood-relatives of patients with epilepsy and invite them to participate by providing a blood sample and/or buccal cells (from a swab or saliva) for genetic testing.

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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.
Study Start Date : May 2016
Estimated Primary Completion Date : December 31, 2028
Estimated Study Completion Date : December 31, 2029

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.
Low SUDEP risk cohort
Patients with epilepsy and a low SUDEP-7 score.

Primary Outcome Measures :
  1. 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 ]

    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.

Biospecimen Retention:   Samples With DNA
50 mls of blood from a vein will be drawn at Mayo Clinic or another medical center and returned through the mail. Buccal swabs will be collected using a swab and saliva based-kit.

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Men and women diagnosed with epilepsy or seizures or unexplained syncope and blood relatives.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02824822

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Contact: Somers CPL Lab CPL@mayo.edu

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United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Sub-Investigator: Erik K St. Louis, MD         
Sub-Investigator: Anwar A Chahal, MD MRCP         
Sub-Investigator: Michael J Ackerman, MD PhD         
Sub-Investigator: Peter A Brady, MD FRCP FHRS         
Sponsors and Collaborators
Mayo Clinic
American Heart Association
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Principal Investigator: Virend K. Somers, MD PhD Mayo Clinic
Additional Information:
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Responsible Party: Virend Somers, MD, PhD, PI, Mayo Clinic
ClinicalTrials.gov Identifier: NCT02824822    
Other Study ID Numbers: 15-002420
First Posted: July 7, 2016    Key Record Dates
Last Update Posted: July 29, 2022
Last Verified: July 2022
Keywords provided by Virend Somers, MD, PhD, Mayo Clinic:
Sudden Unexpected Death in Epilepsy
Sudden Cardiac Arrest
Sudden Cardiac Death
Ion channel disease
Long QT syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia
Additional relevant MeSH terms:
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Sudden Unexpected Death in Epilepsy
Cardiovascular Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Heart Diseases
Neurologic Manifestations
Consciousness Disorders
Neurobehavioral Manifestations
Pathologic Processes
Death, Sudden