Molecular Determinants of Coronaruy Artery Disease (GeneQuest)
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Purpose
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM).
| Condition |
|---|
|
Coronary Artery Disease Arteriovenous Malformations Myocardial Infarction |
| Study Type: | Observational |
| Study Design: | Observational Model: Family-Based Time Perspective: Retrospective |
| Official Title: | Genetic Studies of Coronary Artery Disease and Arteriovenous Malformation (GeneQuest) Molecular Determinants of Coronary Artery Disease |
- Coronary Artery Disease [ Time Frame: 2009 ] [ Designated as safety issue: No ]
- Arteriovenous Malformation [ Time Frame: 2009 ] [ Designated as safety issue: No ]
- Myocardial Infarction [ Time Frame: 2009 ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
For each participant, 10 ml of blood for lymphoblastoid cell line immortalization, 10-20 ml blood for DNA extraction, or two buccal swabs. If gene identified, blood samples from children to identify the children affected with this gene will be obtained. When available, biopsy tissues for extracting DNA, RNA, protein, or for cell biological studies will be obtained. Human genomic DNA will be prepared from peripheral blood lymphocytes, biopsy tissue, or cell lines derived from Epstein Barr virus transformed lymphocytes 15. DNA will be used for a variety of purposes including linkage analysis and mutational screening.
| Estimated Enrollment: | 2980 |
| Study Start Date: | January 1995 |
| Estimated Study Completion Date: | December 2015 |
| Estimated Primary Completion Date: | December 2015 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
Cases
premature CAD and MI, AVM
|
|
Controls
No CAD, MI, AVM
|
Detailed Description:
The purpose of this study is to discover genes that may cause Coronary Artery Disease (CAD) or Arteriovenous Malformation (AVM). Many human diseases are inherited or passed from parent to child in families. These diseases occur because of damage to a gene(s), the genetic material that is also called DNA. Scientists can now use modern molecular techniques to locate and to find certain genes within the DNA (genetic material) of a person, and to follow their inheritance in a family. To find these disease-causing genes requires studies of many affected with the disease and their family members. The purpose of this study is to locate and to find the genes for coronary artery disease (CAD) which occurs when one or more of the arteries that carry oxygen-rich blood from your heart to the rest of your body develop blockages; or, arteriovenous malformation (AVM) which causes abnormal vascular connections between arteries and veins, particularly near the heart. Findings of the genes causing CAD and AVM will have far-reaching effect on the diagnosis, treatment, and prevention of coronary artery disease and arteriovenous malformation. These studies will lead to possible genetic diagnosis, early detection of persons at risk for developing CAD or AVM (even in the absence of symptoms), development of effective drugs, more rational and specific therapeutic interventions, treatments and ultimately, prevention of coronary heart disease. Approximately 3-5 years are required to find one human disease gene.
Eligibility| Ages Eligible for Study: | 45 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
| Sampling Method: | Non-Probability Sample |
Patients with CAD or AVM and their family members and 500 normal control individuals The total number enrolled is 2,980, and approximately 2,000 recruited at the Cleveland Clinic.
We will comply with the NIH guidelines by including women and members of minority groups and their subpopulations in the study.
Inclusion Criteria:
- Males at least 45 years old and premenopausal females at least 50 years old at the time of onset of any of the following:
- PTCA
- MI
- CABG
- Must have a living sibling meeting the same criteria.
Exclusion Criteria:
- Substance Abuse in the absence of angiographic coronary stenosis
- Congenital Heart Disease
Contacts and Locations More Information
No publications provided
| Responsible Party: | Stanley Hazen, MD, PhD, Cleveland Clinic |
| ClinicalTrials.gov Identifier: | NCT00590291 History of Changes |
| Other Study ID Numbers: | GeneQuest, 1 P50 HL077107-03, IRB4333 |
| Study First Received: | December 27, 2007 |
| Last Updated: | January 23, 2012 |
| Health Authority: | United States: Federal Government |
Keywords provided by The Cleveland Clinic:
|
Coronary Artery Disease Arteriovenous Malformations Myocardial Infarction CAD MI |
Heart Attack AVM genetic familial |
Additional relevant MeSH terms:
|
Congenital Abnormalities Arteriovenous Malformations Vascular Malformations Cardiovascular Abnormalities Aneurysm Hemangioma Coronary Artery Disease Myocardial Ischemia Coronary Disease Infarction Myocardial Infarction |
Cardiovascular Diseases Vascular Diseases Neoplasms, Vascular Tissue Neoplasms by Histologic Type Neoplasms Heart Diseases Arteriosclerosis Arterial Occlusive Diseases Ischemia Pathologic Processes Necrosis |
ClinicalTrials.gov processed this record on May 19, 2013