Molecular Determinants of Coronaruy Artery Disease (GeneQuest)

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
Information provided by:
The Cleveland Clinic
ClinicalTrials.gov Identifier:
NCT00590291
First received: December 27, 2007
Last updated: January 23, 2012
Last verified: January 2012
  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

Resource links provided by NLM:


Further study details as provided by The Cleveland Clinic:

Primary Outcome Measures:
  • Coronary Artery Disease [ Time Frame: 2009 ] [ Designated as safety issue: No ]
  • Arteriovenous Malformation [ Time Frame: 2009 ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • 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
Study Population

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.

Criteria

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
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 ClinicalTrials.gov identifier: NCT00590291

Sponsors and Collaborators
The Cleveland Clinic
Investigators
Principal Investigator: Qing Wang, PhD The Cleveland Clinic
  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
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 August 28, 2014