CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium

Study Summary

The purpose of this project is to see if heritable alterations in the function, biology and vascular repair capacity of vascular cells make a major contribution to the burden of coronary artery disease (CAD), fibromuscular dysplasia (FMD), and other vascular diseases. In more detail, FMD is a nonatherosclerotic vascular disease that primarily affects women aged 20 to 60. It commonly affects the renal and carotid arteries but may involve almost every artery in the body. At the cellular level, FMD is characterized by increased fibroblast proliferation and collagen deposition. This study aims to define some of these cellular problems by directly studying fibroblast cells from FMD patients and healthy control subjects. Similarly, CAD is among the leading causes of death worldwide. However, a large part of the risk for CAD is unexplained. It is thought that a major but undefined risk factor may be gene (genomic) variations causing a change in vascular cell function. Here, we will study important vascular cell types in patients with severe and early onset CAD in an attempt to define these problems. Therefore, in summary, this study will look to define the various cellular-level problems that occur in patients with both in CAD and FMD. These data will be linked to DNA-level analyses to ultimately attempt to define the cause of these conditions.