간질에서 심혈관 질환의 유전적 마커
심혈관 질환의 유전적 마커와 간질의 갑작스러운 돌연사에 잠재적인 역할.
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.
연구 개요
상세 설명
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.
연구 유형
등록 (추정된)
연락처 및 위치
연구 연락처
- 이름: Somers CPL Lab
- 이메일: CPL@mayo.edu
연구 장소
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Minnesota
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Rochester, Minnesota, 미국, 55905
- 모병
- Mayo Clinic
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부수사관:
- Erik K St. Louis, MD
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부수사관:
- Anwar A Chahal, MD MRCP
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부수사관:
- Michael J Ackerman, MD PhD
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부수사관:
- Peter A Brady, MD FRCP FHRS
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참여기준
자격 기준
공부할 수 있는 나이
건강한 자원 봉사자를 받아들입니다
연구 대상 성별
샘플링 방법
연구 인구
Men and women diagnosed with epilepsy or seizures or unexplained syncope and blood relatives.
설명
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
공부 계획
연구는 어떻게 설계됩니까?
디자인 세부사항
- 관찰 모델: FAMILY_BASED
- 시간 관점: PROSPECTIVE
코호트 및 개입
그룹/코호트 |
|---|
|
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. |
연구는 무엇을 측정합니까?
주요 결과 측정
결과 측정 |
측정값 설명 |
기간 |
|---|---|---|
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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.
기간: 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. |
3-5 years
|
공동 작업자 및 조사자
연구 기록 날짜
연구 주요 날짜
연구 시작
기본 완료 (추정된)
연구 완료 (추정된)
연구 등록 날짜
최초 제출
QC 기준을 충족하는 최초 제출
처음 게시됨 (추정된)
연구 기록 업데이트
마지막 업데이트 게시됨 (실제)
QC 기준을 충족하는 마지막 업데이트 제출
마지막으로 확인됨
추가 정보
이 연구와 관련된 용어
추가 관련 MeSH 약관
기타 연구 ID 번호
- 15-002420
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