Actively Recruiting

Age: 18Years - 50Years
All Genders
ID02824822

Genetic Markers of Cardiovascular Diseases and Their Role in Sudden Unexpected Death in Epilepsy

Led by Mayo Clinic · Updated on 2025-09-08

600

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

Sponsors

M

Mayo Clinic

Lead Sponsor

A

American Heart Association

Collaborating Sponsor

AI-Summary

What this Trial Is About

Epilepsy affects over 3 million people in the US and carries a significant risk of sudden unexpected death (SUDEP), especially in those under 40 years old. This study aims to find out if patients with epilepsy who have the highest risk of SUDEP have genetic heart and brain disorders that might cause dangerous heart rhythms and sudden death. Researchers are looking closely at genetic causes related to heart rhythm and sudden death in these patients and their close blood relatives. Participants include people with epilepsy who have a high SUDEP risk score or a family history of epilepsy, seizures, cardiac arrest, sudden death, drowning, syncope, or heart rhythm disorders. The study also invites blood relatives of these patients to provide blood or saliva samples for genetic testing. There are two groups: patients with high SUDEP risk and those with low SUDEP risk. During the study, researchers will use advanced genetic sequencing to check for cardiac genetic mutations in patients at high risk of sudden death over 3 to 5 years. Participants will provide genetic samples and medical history information. The study will monitor genetic markers linked to heart and brain disorders to better understand risks associated with epilepsy. The total participation time varies by individual needs and testing schedules.

CONDITIONS

Brief Title

Genetic Markers of Cardiovascular Disease in Epilepsy

Who Can Participate

Age: 18Years - 50Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults ages 18 to 50 with a diagnosis of epilepsy, seizures, syncope, drowning, cardiac arrest, sudden death, or an abnormal ECG suggesting arrhythmia
  • Blood relatives aged 18 or older of patients with a history of epilepsy, seizures, cardiac arrest, sudden death, drowning, syncope, or arrhythmia
Not Eligible

You will not qualify if you...

  • Unable to provide written consent
  • Prisoners
  • Seizures caused by ischemic events
  • Seizures caused by traumatic brain injury
  • History of cranial surgery
  • History of brain tumor

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Sample Collection

Duration - Up to 5 years

Participants provide blood samples and/or buccal cells for genetic testing to determine the presence of genetic cardiac mutations related to epilepsy and sudden unexpected death.

1 to 2 visits depending on cohort assignment

Long-term Monitoring

Duration - Up to 5 years

Participants are observed over time to understand the role of genetic markers in cardiovascular disease and sudden unexpected death in epilepsy.

Visits as needed for follow-up assessments

Trial Site Locations

Total: 1 location

1

Mayo Clinic

Rochester, Minnesota, United States, 55905

Actively Recruiting

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Research Team

S

Somers CPL Lab

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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Frequently Asked Questions

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