Genetic Markers of Cardiovascular Disease in Epilepsy

NCT02824822 | Recruiting

• 1 other identifier: 15-002420
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

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.

Conditions

Epilepsy; Seizures; Syncope; Channelopathy; Cardiomyopathies

Keywords

Sudden Unexpected Death in Epilepsy; SUDEP; Sudden Cardiac Arrest; Sudden Cardiac Death; Sleep; Ion channel disease; Long QT syndrome; Brugada; Catecholaminergic Polymorphic Ventricular Tachycardia

Outcome Measures

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.

  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

Study Arms (2)

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.

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Men and women diagnosed with epilepsy or seizures or unexplained syncope and blood relatives.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Mayo Clinic: lead
• American Heart Association: collaborator

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

RECRUITING

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.

MeSH Terms

Conditions

Epilepsy; Seizures; Syncope; Channelopathies; Cardiomyopathies; Sudden Unexpected Death in Epilepsy; Death, Sudden, Cardiac; Long QT Syndrome; Polymorphic Catecholaminergic Ventricular Tachycardia

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Unconsciousness; Consciousness Disorders; Neurobehavioral Manifestations; Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Death, Sudden; Death; Heart Arrest; Arrhythmias, Cardiac; Cardiac Conduction System Disease; Heart Defects, Congenital; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Tachycardia, Ventricular; Tachycardia

Study Officials

• Virend K. Somers, MD PhD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Somers CPL Lab

CONTACT

CPL@mayo.edu

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PI

Study Record Dates

• First Submitted: June 22, 2016
• First Posted: July 7, 2016
• Study Start: May 1, 2016
• Primary Completion (Estimated): December 1, 2031
• Study Completion (Estimated): December 1, 2031
• Last Updated: September 8, 2025

Record last verified: 2025-09

Locations

US (1)