Genetic Markers of Cardiovascular Disease in Epilepsy

NCT ID: NCT02824822

Last Updated: 2025-09-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-05-31

Study Completion Date

2031-12-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Epilepsy Seizures Syncope Channelopathy Cardiomyopathies

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

No interventions assigned to this group

Low SUDEP risk cohort

Patients with epilepsy and a low SUDEP-7 score.

No interventions assigned to this group

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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American Heart Association

OTHER

Sponsor Role collaborator

Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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Virend Somers, MD, PhD

PI

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Virend K. Somers, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic

Rochester, Minnesota, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Somers CPL Lab

Role: CONTACT

Other Identifiers

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15-002420

Identifier Type: -

Identifier Source: org_study_id

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