Genomic Investigation of Cardiovascular Diseases

Coronary Artery Disease Clinical Trial

Official title:

The Genebank at Scripps Clinic Registry

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT00722748
• Other study ID #: HSC004714
• Status: Active, not recruiting
• Start date: June 2007
• Est. completion date: September 2030

Study information

• Verified date: March 2021
• Source: Scripps Translational Science Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 15000
• Est. completion date: September 2030
• Est. primary completion date: September 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Aortic Stenosis
• Aortic Valve Stenosis
• Atrial Fibrillation
• Cardiomyopathies
• Coronary Artery Disease
• Idiopathic Cardiomyopathy
• Infarction
• Mitral Regurgitation
• Mitral Valve Insufficiency
• Myocardial Infarction

Locations

Country	Name	City	State
United States	Scripps Health	La Jolla	California

Sponsors (1)

Lead Sponsor	Collaborator
Scripps Translational Science Institute

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.		At the time of informed consent

External Links

•   The webpage for Scripps Translational Science Institute