Recruiting

Genetic Markers

Sponsor:

Mayo Clinic

Code:

NCT02824822

Conditions

Epilepsy

Seizures

Syncope

Channelopathy

Cardiomyopathies

Eligibility Criteria

Sex: All

Age: 18 - 50

Healthy Volunteers: Not accepted

Study Details

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

Study ID

NCT02824822

Start date

May, 2016

Status verified date

Sep, 2025

Completion date

Dec, 2031

Anticipated

Primary completion date

Dec, 2031

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 50

Healthy Volunteers: Not accepted

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 Design

Enrollment

600 participants

Anticipated

Interventions and Outcome Measures

Arms

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 measure

  • 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 ]

Central Contacts and Locations

Central contacts

Somers CPL Lab

CPL@mayo.edu

Locations

Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55905

More Information

Sponsor

Mayo Clinic

Last update posted

Sep 8, 2025

Last verified

Sep, 2025

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Mayo Clinic on 2025-09-08.