てんかんにおける心血管疾患の遺伝子マーカー
心血管疾患の遺伝子マーカーと、てんかんにおける予期せぬ突然死における潜在的な役割。
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.
調査の概要
詳細な説明
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.
研究の種類
入学 (推定)
連絡先と場所
研究連絡先
- 名前：Somers CPL Lab
- メール：CPL@mayo.edu
研究場所
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Minnesota
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Rochester、Minnesota、アメリカ、55905
- 募集
- Mayo Clinic
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副調査官：
- Erik K St. Louis, MD
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副調査官：
- Anwar A Chahal, MD MRCP
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副調査官：
- Michael J Ackerman, MD PhD
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副調査官：
- Peter A Brady, MD FRCP FHRS
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-
参加基準
適格基準
就学可能な年齢
健康ボランティアの受け入れ
受講資格のある性別
サンプリング方法
調査対象母集団
Men and women diagnosed with epilepsy or seizures or unexplained syncope and blood relatives.
説明
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
研究計画
研究はどのように設計されていますか？
デザインの詳細
- 観測モデル：FAMILY_BASED
- 時間の展望：PROSPECTIVE
コホートと介入
グループ/コホート |
|---|
|
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. |
この研究は何を測定していますか？
主要な結果の測定
結果測定 |
メジャーの説明 |
時間枠 |
|---|---|---|
|
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.
時間枠：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
|
協力者と研究者
研究記録日
主要日程の研究
研究開始
一次修了 (推定)
研究の完了 (推定)
試験登録日
最初に提出
QC基準を満たした最初の提出物
最初の投稿 (推定)
学習記録の更新
投稿された最後の更新 (実際)
QC基準を満たした最後の更新が送信されました
最終確認日
詳しくは
本研究に関する用語
追加の関連 MeSH 用語
その他の研究ID番号
- 15-002420
この情報は、Web サイト clinicaltrials.gov から変更なしで直接取得したものです。研究の詳細を変更、削除、または更新するリクエストがある場合は、register@clinicaltrials.gov。 までご連絡ください。 clinicaltrials.gov に変更が加えられるとすぐに、ウェブサイトでも自動的に更新されます。