Genetic Markers of Cardiovascular Disease in Epilepsy
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|ClinicalTrials.gov Identifier: NCT02824822|
Recruitment Status : Recruiting
First Posted : July 7, 2016
Last Update Posted : April 23, 2019
|Condition or disease|
|Epilepsy Seizures Syncope Channelopathy Cardiomyopathies|
|Study Type :||Observational|
|Estimated Enrollment :||600 participants|
|Official Title:||Genetic Markers of Cardiovascular Diseases and the Potential Role in Sudden Unexpected Death in Epilepsy.|
|Study Start Date :||May 2016|
|Estimated Primary Completion Date :||May 2020|
|Estimated Study Completion Date :||May 2022|
High SUDEP risk cohort
Patients with epilepsy who have a high SUDEP-7 risk score and/or a blood-relative with epilepsy, seizure, cardiac arrest, sudden death, drowning/near-drowning, syncope or arrhythmia.
Low SUDEP risk cohort
Patients with epilepsy and a low SUDEP-7 score.
- 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 ]
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.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02824822
|Contact: Lisa D. Block||507-255-0492||CPL@mayo.edu|
|Contact: Somers CPL Lab||CPL@mayo.edu|
|United States, Minnesota|
|Rochester, Minnesota, United States, 55905|
|Sub-Investigator: Erik K St. Louis, MD|
|Sub-Investigator: Anwar A Chahal, MD MRCP|
|Sub-Investigator: Michael J Ackerman, MD PhD|
|Sub-Investigator: Peter A Brady, MD FRCP FHRS|
|Principal Investigator:||Virend K. Somers, MD PhD||Mayo Clinic|