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NCT Number: NCT02824822

Genetic Markers of Cardiovascular Disease in Epilepsy

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.

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Key information

Conditions

Epilepsy Arrhythmias, Cardiac Brain Diseases Cardiac Conduction System Disease Cardiomyopathies Cardiovascular Abnormalities Cardiovascular Diseases Central Nervous System Diseases Channelopathies Channelopathy Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Consciousness Disorders Death Death, Sudden Death, Sudden, Cardiac Heart Arrest Heart Defects, Congenital Heart Diseases Long QT Syndrome Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Pathologic Processes Pathological Conditions, Signs and Symptoms Polymorphic Catecholaminergic Ventricular Tachycardia Seizures Signs and Symptoms Sudden Unexpected Death in Epilepsy Syncope Tachycardia Tachycardia, Ventricular Unconsciousness

Age range

18 year–50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location status: Recruiting

Location contact

Anwar A Chahal, MD MRCP

SUB_INVESTIGATOR

Erik K St. Louis, MD

SUB_INVESTIGATOR

Michael J Ackerman, MD PhD

SUB_INVESTIGATOR

Peter A Brady, MD FRCP FHRS

SUB_INVESTIGATOR

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  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.

Study contacts

Contact information is provided by the study sponsor or research team.

Somers CPL Lab

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Collaborators

  • American Heart Association

Registry information

Official study title

Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.

Important dates

Study start
2016
Primary completion
2031
Study completion
2031
First posted
Jul 7, 2016
Registry last updated
Sep 8, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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