Pulmonary Vascular Disease Phenomics Program PVDOMICS

NCT ID: NCT02980887

Last Updated: 2025-11-17

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 1195 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-11-30
• Study Completion Date: 2029-12-31

Brief Summary

It is recognized that patients with various forms of heart and lung disease exhibit varying degrees of pulmonary hypertension, pulmonary vascular remodeling, and right ventricular dysfunction. The genetic, molecular, and cellular processes driving these phenomena are not well understood. Rapid advances in high throughput omic methodology, combined with powerful bioinformatics and network biology capability, have created the opportunity to conduct studies that broadly search for homologies and differences across the spectrum of disease states associated with pulmonary hypertension, and determinants of the spectrum of right ventricular compensation that accompanies these conditions

Detailed Description

The protocol is designed to lead to new understanding of patients with pulmonary hypertension and right heart dysfunction, based on molecular, clinical, hemodynamic and radiographic characteristics. New classifications will be a product of association of these in depth phenotypic descriptions with specific molecular mechanisms of pathogenesis. The protocol will be implemented to lead to identification of both sub-phenotypes of lung vascular disease and to biomarkers of disease that may be useful for early diagnosis or for assessment of interventions to prevent or treat this condition.

A longitudinal study in a subset of the participants enrolled in the parent cross-sectional study will:

1. Retest participants at a minimum 6 month interval from initial evaluation to collect a core set of clinical and OMICS features. This will include survival, clinical staging, clinical group assignment, 6-minute walk, echocardiography, and blood for a broad collection of selected OMICS tests, to include proteomics and other variables found to be informative in the initial set.

2. Associate and compare OMICS data with clinical sets and OMICS clusters between baseline and follow-up interval, with attention to reproducibility, predictive capacity as biomarkers for diagnosis, disease progression, phenotypic changes, functional capacity, therapeutic response and survival.

Conditions

Pulmonary Arterial Hypertension

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Controls

Healthy controls No intervention as this is an observational study

No Intervention

Intervention Type: OTHER

There is no intervention in this observational study

Pulmonary Vascular Disease

Pulmonary Vascular Disease at risk for pulmonary hypertension

No Intervention

Intervention Type: OTHER

There is no intervention in this observational study

Pulmonary Hypertension

Those meeting WSPH/WHO group classifications 1-5 of pulmonary hypertension

No Intervention

Intervention Type: OTHER

There is no intervention in this observational study

Interventions

No Intervention

There is no intervention in this observational study

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

Patients ages >18 years of age referred for right heart catheterization for further evaluation of known PVD or to be at risk for PVD due to established cardiac disease or pulmonary disease

• Able to perform complete diagnostic testing listed subsequently (cardiac catheterization, echo, exercise test, PFT's, ECG, chest CT, quality of life questionnaires, ventilation/perfusion scan, cardiac MRI, body composition bioimpedance, and sleep study)
• Subject signs informed consent to perform required testing for the protocol

• Any PH, comparators or control participant previously enrolled in the parent PVDOMICS protocol with a minimum of six months post-enrollment
• Dialysis dependent renal function since the parent study acceptable

Exclusion Criteria

Dialysis dependent renal function; In the clinician's opinion, too ill to perform the protocol testing; Pregnant or nursing

Longitudinal study:

Participant Level 1 (clinic visit):

• Transplant other than heart or lung
• In the clinician's opinion, too ill to perform L-PVDOMICS testing even if limited testing.
• Participants who withdrew from the parent PVDOMICS study
• Pregnant or nursing
• Concurrent participation in any investigational drug study or other clinical trial

Participant Level 2 (telephone visit):

• Transplant other than heart or lung
• Participants who withdrew from the parent PVDOMICS study

Participant Level 3 (medical chart review):

• Participants who withdrew from the parent PVDOMICS study

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Brigham and Women's Hospital

OTHER

Sponsor Role: collaborator

Columbia University

OTHER

Sponsor Role: collaborator

Weill Medical College of Cornell University

OTHER

Sponsor Role: collaborator

Johns Hopkins University

OTHER

Sponsor Role: collaborator

Mayo Clinic

OTHER

Sponsor Role: collaborator

University of Arizona

OTHER

Sponsor Role: collaborator

Vanderbilt University

OTHER

Sponsor Role: collaborator

The Cleveland Clinic

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Nicholas S Hill, MD

Role: STUDY_CHAIR

Tufts University Medical Center

Lei Xiao, MD

Role: STUDY_DIRECTOR

National Heart, Lung, and Blood Institute (NHLBI)

Locations

University of Arizona Health Sciences Center

Tucson, Arizona, United States

Johns Hopkins University School of Medicine

Baltimore, Maryland, United States

Brigham and Women's Hospital

Boston, Massachusetts, United States

Mayo Clinic

Rochester, Minnesota, United States

Weill Cornell Medicine

New York, New York, United States

New York Medical College

Valhalla, New York, United States

Vanderbilt University Medical Center

Nashville, Tennessee, United States

Countries

United States

References

Hemnes AR, Leopold JA, Radeva MK, Beck GJ, Abidov A, Aldred MA, Barnard J, Rosenzweig EB, Borlaug BA, Chung WK, Comhair SAA, Desai AA, Dubrock HM, Erzurum SC, Finet JE, Frantz RP, Garcia JGN, Geraci MW, Gray MP, Grunig G, Hassoun PM, Highland KB, Hill NS, Hu B, Kwon DH, Jacob MS, Jellis CL, Larive AB, Lempel JK, Maron BA, Mathai SC, McCarthy K, Mehra R, Nawabit R, Newman JH, Olman MA, Park MM, Ramos JA, Renapurkar RD, Rischard FP, Sherer SG, Tang WHW, Thomas JD, Vanderpool RR, Waxman AB, Wilcox JD, Yuan JX, Horn EM; PVDOMICS Study Group. Clinical Characteristics and Transplant-Free Survival Across the Spectrum of Pulmonary Vascular Disease. J Am Coll Cardiol. 2022 Aug 16;80(7):697-718. doi: 10.1016/j.jacc.2022.05.038.

Reference Type: BACKGROUND

PMID: 35953136 (View on PubMed)

Hemnes AR, Beck GJ, Newman JH, Abidov A, Aldred MA, Barnard J, Berman Rosenzweig E, Borlaug BA, Chung WK, Comhair SAA, Erzurum SC, Frantz RP, Gray MP, Grunig G, Hassoun PM, Hill NS, Horn EM, Hu B, Lempel JK, Maron BA, Mathai SC, Olman MA, Rischard FP, Systrom DM, Tang WHW, Waxman AB, Xiao L, Yuan JX, Leopold JA; PVDOMICS Study Group. PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics. Circ Res. 2017 Oct 27;121(10):1136-1139. doi: 10.1161/CIRCRESAHA.117.311737.

Reference Type: BACKGROUND

PMID: 29074534 (View on PubMed)

Padmanabhan Menon D, Frantz RP, Gochanour BR, Beck GJ, Berman-Rosenzweig ES, Borlaug BA, Erzurum SC, Farha S, Finet JE, Grunig G, Hassoun PM, Hemnes AR, Hill NS, Horn EM, Lempel JK, Leopold JA, Mathai SC, Renapurkar RD, Rischard FP, Waxman AB, DuBrock HM. Ground Glass Opacities in Pulmonary Arterial Hypertension-Results from the PVDOMICS Study. Ann Am Thorac Soc. 2025 Jul 18. doi: 10.1513/AnnalsATS.202503-333OC. Online ahead of print.

Reference Type: DERIVED

PMID: 40680159 (View on PubMed)

Reddy YNV, Frantz RP, Hemnes AR, Hassoun PM, Horn E, Leopold JA, Rischard F, Rosenzweig EB, Hill NS, Erzurum SC, Beck GJ, Finet JE, Jellis CL, Mathai SC, Tang WHW, Borlaug BA; PVDOMICS Study Group. Disentangling the Impact of Adiposity From Insulin Resistance in Heart Failure With Preserved Ejection Fraction. J Am Coll Cardiol. 2025 May 13;85(18):1774-1788. doi: 10.1016/j.jacc.2025.03.530.

Reference Type: DERIVED

PMID: 40335254 (View on PubMed)

Borlaug BA, Larive B, Frantz RP, Hassoun P, Hemnes A, Horn E, Leopold J, Rischard F, Berman-Rosenzweig E, Beck G, Erzurum S, Farha S, Finet JE, Highland KB, Jacob M, Jellis C, Mehra R, Renapurkar R, Singh H, Tang WHW, Vanderpool R, Wilcox J, Yu S, Hill N. Pulmonary hypertension across the spectrum of left heart and lung disease. Eur J Heart Fail. 2024 Jul;26(7):1642-1651. doi: 10.1002/ejhf.3302. Epub 2024 Jun 4.

Reference Type: DERIVED

PMID: 38837273 (View on PubMed)

Lowery MM, Hill NS, Wang L, Rosenzweig EB, Bhat A, Erzurum S, Finet JE, Jellis CL, Kaur S, Kwon DH, Nawabit R, Radeva M, Beck GJ, Frantz RP, Hassoun PM, Hemnes AR, Horn EM, Leopold JA, Rischard FP, Mehra R; Pulmonary Vascular Disease Phenomics (PVDOMICS) Study Group. Sleep-Related Hypoxia, Right Ventricular Dysfunction, and Survival in Patients With Group 1 Pulmonary Arterial Hypertension. J Am Coll Cardiol. 2023 Nov 21;82(21):1989-2005. doi: 10.1016/j.jacc.2023.09.806.

Reference Type: DERIVED

PMID: 37968017 (View on PubMed)

Tang WHW, Wilcox JD, Jacob MS, Rosenzweig EB, Borlaug BA, Frantz RP, Hassoun PM, Hemnes AR, Hill NS, Horn EM, Singh HS, Systrom DM, Tedford RJ, Vanderpool RR, Waxman AB, Xiao L, Leopold JA, Rischard FP. Comprehensive Diagnostic Evaluation of Cardiovascular Physiology in Patients With Pulmonary Vascular Disease: Insights From the PVDOMICS Program. Circ Heart Fail. 2020 Mar;13(3):e006363. doi: 10.1161/CIRCHEARTFAILURE.119.006363. Epub 2020 Feb 24.

Reference Type: DERIVED

PMID: 32088984 (View on PubMed)

Related Links

http://lriapps.ccf.org/pvd/

PVDOMICS study protocol

Other Identifiers

16-860

Identifier Type: -

Identifier Source: org_study_id