Genetic Markers of Cardiovascular Disease in Epilepsy
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-50
SponsorMayo Clinic
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
Those who are unable to provide written consent.
Prisoners (vulnerable population)
Seizures secondary to ischemic events
Traumatic brain injury resulting in seizures
Trial population
Men and women diagnosed with epilepsy or seizures or unexplained syncope and blood relatives.
Trial design
Design model
Family-based
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
600 Participants
are grouped into 2 trial groupsGroup A: High SUDEP risk cohort
Group B: Low SUDEP risk cohort
Trial outcomes
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 yearsSponsors and contacts
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Mayo Clinic
Lead sponsor
American Heart Association
Collaborator
Source ClinicalTrials.gov