Genetic Markers of Cardiovascular Disease in Epilepsy

Part of paid clinical trials in Rochester, Minnesota.

Sponsor
Mayo Clinic
Study ID
NCT02824822
Status
Recruiting

Conditions

  • Cardiomyopathies
  • Channelopathy
  • Epilepsy
  • Seizures
  • Syncope

Eligibility Criteria

Sex
ALL
Age
18 Years - 50 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
May 31, 2016
Status verified
Sep 2025
Primary completion
Dec 31, 2031
Completion
Dec 31, 2031

Study Design

Enrollment
600 participants (estimated)

Arms

  • Arm: 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.
  • Arm: 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

Locations (1)

FacilityCityStateZIPSite coordinators
Mayo ClinicRochesterMinnesota55905
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 (SUB_INVESTIGATOR)

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