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Genomic Investigation of Cardiovascular Diseases

2021년 3월 16일 업데이트: Eric Topol, MD, Scripps Translational Science Institute

The Genebank at Scripps Clinic Registry

This proposal puts forward a research plan to initiate a genetic databank, henceforth referred to as The Genebank at Scripps Clinic Registry. This database will usher in genomic research at Scripps as we strive to stay at the forefront of cardiovascular research in the new century. Human subject donation allows for the creation of the proposed genebank.

연구 개요

상세 설명

The completion of the human genome project within the final months of the previous millennium, is a landmark of scientific accomplishment. This achievement heralds the importance human and molecular genetics will play in the coming century in medicine. In short, one expects that dissecting the phenotypic aspects of disease to a culprit mutation/variation of a gene or collection of genes, will modify and or augment our present diagnostic ability leading on to new therapeutic interventions that are targeted based on these discoveries.

The broad application of human genetics will progress from the study of rare mendelian traits with complete penetrance compiled over the last 3-4 decades to a large number of "common" diseases that have multi-gene etiology with variable penetrance such as non-insulin dependent diabetes mellitus and hypertension. Cardiology will probably stay at a forefront of this transformation, as cardiovascular diseases (CVD) remain the major source of morbidity and mortality in developing countries, and is fast reaching the same status in the underdeveloped countries. Furthermore, the track record of rapid adaptation of new technology and research in the field of cardiology, would give further impetus to this transition. In the midst of these dynamic currents, this proposal puts forward a research plan to initiate a genetic databank, henceforth referred to as The Genebank at Scripps Clinic Registry. This database will usher in genomic research at Scripps as we strive to stay at the forefront of cardiovascular research in the new century.

The objective of this study is, to obtain blood samples in order to define genes for various cardiovascular conditions. The blood samples will go through DNA analysis and noted for 1 million SNP's per individual.

연구 유형

관찰

등록 (예상)

15000

연락처 및 위치

이 섹션에서는 연구를 수행하는 사람들의 연락처 정보와 이 연구가 수행되는 장소에 대한 정보를 제공합니다.

연구 장소

    • California
      • La Jolla, California, 미국, 92037
        • Scripps Health

참여기준

연구원은 적격성 기준이라는 특정 설명에 맞는 사람을 찾습니다. 이러한 기준의 몇 가지 예는 개인의 일반적인 건강 상태 또는 이전 치료입니다.

자격 기준

공부할 수 있는 나이

18년 이상 (성인, 고령자)

건강한 자원 봉사자를 받아들입니다

아니

연구 대상 성별

모두

샘플링 방법

비확률 샘플

연구 인구

Subjects will be recruited from Scripps Health general diagnostic population, cardiology population, and outside referrals. Upon meeting the inclusion/exclusion criteria, each eligible patient will be given a consent form and the study will be discussed with them in a face-to-face discussion with the principal investigator, one of the co-investigators or one of the research coordinators. The patient (or legal representative) must sign the informed consent form prior to any study related procedures being performed.

설명

Inclusion Criteria:

Candidates for this study must meet ALL of the following criteria:

  • Age 18 years or older
  • Be reliable, cooperative and willing to comply with all protocol-specified procedures and sub-study if consented.
  • Able to understand and grant informed consent
  • Have at least one of the following (a-g):

    1. Coronary Artery Disease (defined as):

      • Coronary artery bypass surgery or
      • Lesion >70% on cardiac or CT angiogram or
      • Percutaneous Coronary Intervention
    2. Myocardial infarction (defined as):

      • Diagnosed by elevated troponin level or
      • Diagnosed by ST segment elevations on EKG or
      • Diagnosed by pathologic Q waves on EKG or
      • Documented in the medical record or by self report
    3. Atrial Fibrillation (defined as):

      • Lone Atrial fibrillation (paroxysmal, persistent or permanent); OR
      • Lone Atrial Flutter (paroxysmal, persistent or permanent)
    4. Automatic Internal Cardiac Defibrillator
    5. Aortic Stenosis (defined by):

      • Calculated Aortic Valve Area ≤ 1.0 cm² or
      • Mean Pressure Gradient ≥ 40 mmHg or
      • Peak Pressure Gradient ≥ 64 mmHg or
      • Dimensionless Index < .25 or
      • Prior or planned Aortic Valve Replacement for Aortic Stenosis
    6. Mitral Regurgitation (insufficiency) (defined as)

      • Moderate to Severe (equivalent to +3 to +4) mitral regurgitation (insufficiency) on transthoracic echocardiogram as determined by the reading physician and structurally abnormal valve (i.e. myxomatous) and/or thickened or redundant leaflets; OR
      • Prior or planned Mitral Valve repair or replacement for mitral regurgitation
    7. Idiopathic (non-ischemic) Cardiomyopathy (defined as):

      • Diagnosed < age 40; OR
      • Non-ischemic etiology confirmed by cardiac angiography or CT angiography (may have non-obstructive or stable coronary artery disease if diagnosis of non-ischemic etiology of CM is established by cardiologist).

Exclusion Criteria:

Patients will be excluded if ANY of the following conditions apply:

  • Previously enrolled in The Genebank at Scripps Clinic Registry
  • Any active bleeding (i.e. GI bleed).
  • Has a significant medical condition which in the investigator's opinion may interfere with the patient's optimal participation in the study
  • Treatment with any investigational agents or devices within 30 days preceding enrollment in the study.
  • Been administered or taken any CNS sedatives or depressants in the past 12 hours.
  • Been administered or taken any CNS sedatives or depressants in the past 12 hours.
  • Subject's qualifying diagnosis is Atrial fibrillation and they are known to have any one of the following:

    1. Prior myocardial infarction, coronary artery bypass surgery, or percutaneous coronary intervention
    2. EF < 45% at time of diagnosis (excluding tachycardia induced cardiomyopathy diagnosed by a cardiologist)
    3. Elevated left atrial pressures (> 20 mmHg)
    4. Dilated left atrium (> 4.0 cm or >2.0 cm/m2 body surface)
    5. Mitral valve disease with significant valve pathology

      • Mitral regurgitation/insufficiency greater than trace to mild on echo as determined by reading physician
      • Rheumatic mitral valve disease
    6. Congestive heart failure prior to diagnosis
    7. Hypertrophic cardiomyopathy
    8. Diagnosis following coronary artery bypass or valve replacement surgery
    9. Post heart transplant
    10. Congenital heart disease
    11. Diagnosed in setting of hyperthyroid
    12. COPD
    13. Obstructive sleep apnea
  • Subject's qualifying diagnosis is Aortic Stenosis and they are known to have any one of the following:

    1. Bicuspid valve or other congenital abnormality of the aorta or aortic valve
    2. Evidence of Rheumatic involvement of the Aortic Valve
  • Subject's qualifying diagnosis is Mitral regurgitation (insufficiency) and they are known to have any one of the following:

    1. Ejection fraction <50%
    2. Evidence of significant ischemic disease with regions of akinetic myocardium
    3. Rheumatic changes on echocardiogram (as determined by the reading physi4ian)

    5. Significant Mitral stenosis (greater than "mild" on echocardiogram as determined by the reading physician) 6. Evidence of valve perforation 7. Evidence of congenital abnormality (i.e. cleft valve)

  • Subject's qualifying diagnosis is Idiopathic (non-ischemic) cardiomyopathy and they are known to have any one of the following:

    1. Ischemic cardiomyopathy
    2. Hypertrophic cardiomyopathy
    3. Viral cardiomyopathy
    4. Alcohol/drug induced cardiomyopathy

공부 계획

이 섹션에서는 연구 설계 방법과 연구가 측정하는 내용을 포함하여 연구 계획에 대한 세부 정보를 제공합니다.

연구는 어떻게 설계됩니까?

디자인 세부사항

코호트 및 개입

그룹/코호트
Genebank
By creating a genebank from patient's blood donations we will ultimately be able to define genes for various cardiovascular conditions.

연구는 무엇을 측정합니까?

주요 결과 측정

결과 측정
기간
38 cc of blood obtained for DNA analysis. Medical information -diagnosis, disease history, medical treatments, response to treatments, laboratory tests, subject's age, ethnic background, and if available, related family history.
기간: At the time of informed consent
At the time of informed consent

공동 작업자 및 조사자

여기에서 이 연구와 관련된 사람과 조직을 찾을 수 있습니다.

간행물 및 유용한 링크

연구에 대한 정보 입력을 담당하는 사람이 자발적으로 이러한 간행물을 제공합니다. 이것은 연구와 관련된 모든 것에 관한 것일 수 있습니다.

연구 기록 날짜

이 날짜는 ClinicalTrials.gov에 대한 연구 기록 및 요약 결과 제출의 진행 상황을 추적합니다. 연구 기록 및 보고된 결과는 공개 웹사이트에 게시되기 전에 특정 품질 관리 기준을 충족하는지 확인하기 위해 국립 의학 도서관(NLM)에서 검토합니다.

연구 주요 날짜

연구 시작

2007년 6월 1일

기본 완료 (예상)

2025년 9월 1일

연구 완료 (예상)

2030년 9월 1일

연구 등록 날짜

최초 제출

2008년 7월 24일

QC 기준을 충족하는 최초 제출

2008년 7월 25일

처음 게시됨 (추정)

2008년 7월 28일

연구 기록 업데이트

마지막 업데이트 게시됨 (실제)

2021년 3월 17일

QC 기준을 충족하는 마지막 업데이트 제출

2021년 3월 16일

마지막으로 확인됨

2021년 3월 1일

추가 정보

이 정보는 변경 없이 clinicaltrials.gov 웹사이트에서 직접 가져온 것입니다. 귀하의 연구 세부 정보를 변경, 제거 또는 업데이트하도록 요청하는 경우 register@clinicaltrials.gov. 문의하십시오. 변경 사항이 clinicaltrials.gov에 구현되는 즉시 저희 웹사이트에도 자동으로 업데이트됩니다. .

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