Genetic Markers of Cardiovascular Disease in Epilepsy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Epilepsy, Seizures, Syncope, Channelopathy. Basic parameters: 18 years — 50 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.
Overview
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.
Primary outcome 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. [Time frame: 3-5 years]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
United States · 1 center
- Mayo Clinic — Rochester
Identifiers
NCT: NCT02824822 · 15-002420