Clinical trial NCT02824822: Genetic Markers of Cardiovascular Disease in Epilepsy
Official title: Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: 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
Lead sponsor: Mayo Clinic
Sponsor class: OTHER
Collaborators: name: American Heart Association
First posted: 2016-07-07
Enrollment: 600
Sex: ALL
Minimum age (years): 18
Maximum age (years): 50
Standard ages: ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Men and women diagnosed with epilepsy or seizures or unexplained syncope and blood relatives.

Brief 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.

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.

Eligibility criteria: 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 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 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

Primary outcomes:
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.
timeFrame: 3-5 years
Secondary outcomes:
Other outcomes:
Locations:
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
Study officials:
affiliation: Mayo Clinic
name: Virend K. Somers, MD PhD
role: PRINCIPAL_INVESTIGATOR
References: