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RecruitingNCT02824822Updated Nov 3, 2026

Genetic Markers of Cardiovascular Disease in Epilepsy

An observational study in Epilepsy, Seizures and Syncope, sponsored by Mayo Clinic. Recruiting at 1 site in United States. Open to participants aged 18 Years to 50 Years. Per ClinicalTrials.gov, last updated 2026-11-03.

Primary conditionSudden Unexpected Death in EpilepsyRegistry: EpilepsyReclassifiedWhy we changed it
Registry
Epilepsy — the first condition term the registry derived for this study.
ClinicalTrials.gg
Sudden Unexpected Death in Epilepsy
Why
  1. The study's title name Sudden Unexpected Death in Epilepsy, a narrower term within Epilepsy.
Confidence
High: the new condition is named in the study's own title. Of 46 hand-checked studies reclassified this way, 72% were exactly right and 89% in the right disease family; the registry's first term was right for 4% (measured 2026-10-21). How we classify →
Wrong?
Tell us the study's main condition →

Sponsored by Mayo Clinic · Observational

Study type
Observational
Model
Family-based
Time perspective
Prospective
Enrollment
600
Ages
18 Years to 50 Years
Sex
All
01

Study 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.

Read the detailed description

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.

02

Conditions studied

  • 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
03

In context

Sudden Unexpected Death in Epilepsy Reclassified

23 studies on the registry are indexed under Sudden Unexpected Death in Epilepsy; 11 are open to participants now.

This study's planned enrollment of 600 is above the median of 59 across 11 observational studies indexed under Sudden Unexpected Death in Epilepsy.

Browse Sudden Unexpected Death in Epilepsy studies →

Lead sponsor

Mayo Clinic is the lead sponsor of 3,269 studies on the registry; 672 are open to participants now.

Of its 452 completed or terminated interventional studies of FDA-regulated products, 321 (71%) have results posted.

Browse Mayo Clinic studies →

Compared within Sudden Unexpected Death in Epilepsy, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Epilepsy. The counts are of registry records indexed under each term, refreshed daily. How we classify →

04

Who can participate

Ages eligible
18 Years to 50 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

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

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

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 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

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
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

ECG (electrocardiogram)

A recording of the heart’s electrical activity, taken with stickers on the chest, arms and legs. It takes a few minutes and does not hurt.

05

Study design

Observational model
Family-based
Time perspective
Prospective
Enrollment
600 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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.

06

What researchers measure

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.

    Time frame: 3-5 years

07

Study locations

1 of 1 sites recruiting
  • Mayo Clinic
    Rochester, Minnesota 55905, United States
    Recruiting
    • 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
08

Timeline

1 registry update since Sep 25, 2026
Not marked actual or estimatedDates not marked actual or estimated

The record gives a start of May 2016, a primary completion of Dec 2031 and a completion of Dec 2031. It does not say whether these dates are actual or estimated.

How these figures are worked out, and which studies are left out of them.

Registered
Jun 22, 2016
First posted
Jul 7, 2016
Start
May 2016
Primary completionEst.
Dec 2031
CompletionEst.
Dec 2031
Last update
Nov 3, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
Minor edits
Nothing that changes what the study is or who can join. Edited: verification date
1 update, last Nov 3, 2026
Show all 1 update
  1. Nov 3, 2026
    Minor edits only
    + 1 other change: verification date

From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗

09

Registry details

Key details

Study ID
NCT02824822
Lead sponsor
Mayo Clinic
Collaborators
American Heart Association
Responsible party
Virend Somers, MD, PhD (PI, Mayo Clinic) — Principal investigator
First posted
Jul 7, 2016
Start date
May 2016
Primary completion
Dec 2031 (estimated)
Completion
Dec 2031 (estimated)
Last update
Nov 3, 2026

Study contacts

Somers CPL Lab
Contact
CPL@mayo.edu
Virend K. Somers, MD PhD
principal investigator · Mayo Clinic

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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