Back to search results

Genetic Markers of Cardiovascular Disease in Epilepsy

This observational study is looking into why some people with epilepsy, especially those at high risk for sudden unexpected death in epilepsy (SUDEP), might have underlying heart conditions. Researchers believe that some of these heart conditions, which can lead to dangerous heart rhythms, might have a genetic cause. The study aims to use advanced genetic testing (Next Generation Whole-Exome Sequencing) to find these genetic mutations in people aged 18 to 50 who have epilepsy, seizures, syncope (fainting), or other related heart issues. Blood relatives of these patients are also invited to participate. The goal is to understand if these genetic heart problems are present in epilepsy patients at highest risk of sudden death, with results expected in 3-5 years. The study is currently unclear on its recruitment status and does not involve any specific interventions.

Study design
This is an observational study with a planned enrollment of 600 participants. It is not a randomized trial and does not involve any specific interventions.
What's involved
Participants may be asked to provide a blood sample and/or buccal cells (from a swab or saliva) for genetic testing.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, determining the presence of genetic cardiac mutations, will be measured at 3-5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT02824822

Genetic Markers of Cardiovascular Disease in Epilepsy

Recruiting
Not specifiedAges 18–50Observational
Mayo Clinic
~600 participants
Updated 2025-09-08 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
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.
Measured over 3-5 years

Conditions

Epilepsy
Seizures
Syncope
Channelopathy
Cardiomyopathies

Explore related trials

Brugada SyndromeCardiomyopathyCatecholaminergic Polymorphic Ventricular Tachycardia by ECG FindingChannelopathiesLong QT SyndromeSeizureSeizure DisorderSudden Cardiac ArrestSudden Cardiac DeathSudden unexpected death in epilepsySyncope

Where it's being run

1 sites across 1 states
Minnesota1

Study leadership

  • Virend K. Somers, MD PhD · PRINCIPAL_INVESTIGATOR · Mayo Clinic

Who to contact

Somers CPL Lab
[email protected]
Email the study team

Opens a ready-to-send draft in your own email app — review before sending.

Do you actually qualify for this trial?

Add a private profile and we'll compare every criterion below against your situation — and tell you which ones are met, uncertain, or excluding.

Check eligibility for this trial ~2 min · HIPAA-protected · delete anytime
Eligibility criteria

Inclusion

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

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

What this trial measures

  • 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.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.