For many years, it has been recognized that patients with different types of heart and lung diseases exhibit varying degrees of pulmonary vascular disease, leading to changes in the vessels of the lungs, pulmonary hypertension (PH) and right ventricular (the lower chamber of the heart that pumps blood to the lungs) dysfunction. Since 1998, PH has been grouped into classifications that look similar in pathology, hemodynamics and how the disease is treated. This classification is called the World Symposium Clinical Classification and is updated approximately every five years.
However, the ways by which PH differs from person to person at the genetic, molecular and cellular level—and how these differences impact the progression of PH—is not as well understood. Recent technological advances have allowed scientists to quickly and cost effectively collect the large amount of genetic, metabolomic and proteomic information (your genetic information alone contains approximately three billion base pairs!), but allow scientists to compare this extraordinarily large amount of data to others similar to you in a process called bioinformatics. Therefore, similarities and differences between patients at the genetic level can be compared with how these same patients differ in their disease as we currently understand it.
In 2010, the NHLBI Pulmonary Vascular Strategic Plan identified the development of a large group of PH patients from whom this large amount of data is collected as a top priority. The NHLBI then issued a “request for proposal” in 2013 for centers interested in participating in developing this network. Ultimately, seven sites were selected as clinical centers and one site as the Data Coordinating Center:
- Cleveland Clinic (Data Coordinating Center, and Omics Cores including Indiana University)
- Brigham and Women’s Hospital, Boston
- Columbia University-New York Presbyterian
- Weill Cornell Medicine-New York Presbyterian
- Johns Hopkins University
- Mayo Clinic
- University of Arizona
- Vanderbilt University
Between 2017-2019, approximately 1,200 participants have been enrolled into the PVDOMICS program, including patients with all types of PH, patients with heart and lung diseases that place them at increased risk of developing PH, and participants without PH (“healthy controls”). A subset of those enrolled will be asked to enroll in the longitudinal study to obtain selected clinical tests and follow-up information.
Participants in the PVDOMICS study were asked to complete the following tests, most of which are a routine part of PH patient care:
- Review of medical history, WHO/NYHA functional classification, examination and medication review
- Vital signs
- Body composition
- Overnight sleep monitoring
- Pulmonary function tests
- Tests of exercise tolerance (for example, 6-minute walk test, cardiopulmonary exercise testing)
- Health-related quality of life surveys
- Cardiac MRI
- Lung CT images
- Ventilation/perfusion (“V/Q”) scan
- Right heart catheterization
- Blood draw for “omics measurements”
Study coordinators will work with participants to schedule these tests over two-four visits, which should be completed within six weeks.
Some participants in the PVDOMICS study will be invited to enroll in the “longitudinal study,” which seeks to follow some patients over time. Participants who enroll in the PVDOMICS Longitudinal Study will undergo some tests from the PVDOMICS study again, at a minimum of six months from the initial PVDOMICS visit. These tests are planned to include:
- Clinical visit or phone call
- 6-minute walk test
- Blood tests
HOW TO PARTICIPATE
Enrollment in the main study ended in October 2019. Participants in that study may be contacted by the investigators at their site to enroll in the longitudinal part of the study.
NHLBI Pulmonary Vascular Disease Phenomics Program
Funded by the National Heart, Lung, and Blood Institute of the National Institutes of Health with support from the Pulmonary Hypertension Association