Genomic Investigation of Cardiovascular Diseases
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00722748|
Recruitment Status : Active, not recruiting
First Posted : July 28, 2008
Last Update Posted : March 17, 2021
|Condition or disease|
|Coronary Artery Disease Myocardial Infarction Atrial Fibrillation Aortic Stenosis Mitral Regurgitation Idiopathic Cardiomyopathy|
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.
|Study Type :||Observational|
|Estimated Enrollment :||15000 participants|
|Official Title:||The Genebank at Scripps Clinic Registry|
|Study Start Date :||June 2007|
|Estimated Primary Completion Date :||September 2025|
|Estimated Study Completion Date :||September 2030|
By creating a genebank from patient's blood donations we will ultimately be able to define genes for various cardiovascular conditions.
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00722748
|United States, California|
|La Jolla, California, United States, 92037|
|Principal Investigator:||Eric J Topol, MD||Scripps Translational Science Institute|