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Genomic Investigation of Cardiovascular Diseases

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Eric Topol, MD, Scripps Translational Science Institute Identifier:
First received: July 24, 2008
Last updated: November 21, 2016
Last verified: November 2016
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.

Coronary Artery Disease
Myocardial Infarction
Atrial Fibrillation
Aortic Stenosis
Mitral Regurgitation
Idiopathic Cardiomyopathy

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: The Genebank at Scripps Clinic Registry

Resource links provided by NLM:

Further study details as provided by Scripps Translational Science Institute:

Primary Outcome Measures:
  • 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. [ Time Frame: At the time of informed consent ]

Biospecimen Retention:   Samples With DNA

Cardiac Catheterization Patients

Blood will be collected from the patients that will undergo heart catheterization for establishing a gene bank registry. Informed consent will take place prior to cardiac catheterization. 38 cc of blood collected will be processed to create a repository of DNA, RNA, and lymphoblastoid cell-line immortalization on selected patient populations, plasma and serum. The DNA will be amplified in certain patient populations to preserve the quantity.

Estimated Enrollment: 15000
Study Start Date: June 2007
Estimated Study Completion Date: September 2017
Estimated Primary Completion Date: September 2017 (Final data collection date for primary outcome measure)
By creating a genebank from patient's blood donations we will ultimately be able to define genes for various cardiovascular conditions.

Detailed Description:

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.


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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.

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00722748

United States, California
Scripps Health
La Jolla, California, United States, 92037
Sponsors and Collaborators
Scripps Translational Science Institute
Principal Investigator: Eric J Topol, MD Scripps Translational Science Institute
  More Information

Additional Information:
Responsible Party: Eric Topol, MD, Director, Scripps Translational Science Institute, Scripps Translational Science Institute Identifier: NCT00722748     History of Changes
Other Study ID Numbers: HSC004714
Study First Received: July 24, 2008
Last Updated: November 21, 2016

Keywords provided by Scripps Translational Science Institute:
Gene registry
Cardiac Arrythmia Disease

Additional relevant MeSH terms:
Atrial Fibrillation
Coronary Artery Disease
Myocardial Ischemia
Coronary Disease
Myocardial Infarction
Aortic Valve Stenosis
Mitral Valve Insufficiency
Arrhythmias, Cardiac
Heart Diseases
Cardiovascular Diseases
Pathologic Processes
Arterial Occlusive Diseases
Vascular Diseases
Heart Valve Diseases
Ventricular Outflow Obstruction processed this record on April 27, 2017