Pulmonary Vascular Disease Phenomics Program PVDOMICS

NCT02980887 | Active Not Recruiting DMC

• 1 other identifier: 16-860
• Study Type: observational
• Target: 1,195
• Locations: 1 country
• Sites: 7

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

Conditions

Pulmonary Arterial Hypertension

Keywords

Pulmonary arterial hypertension

Outcome Measures

Primary Outcomes (1)

• Precision based definitions of pulmonary vascular diseases (PVD)

  OMICs analyses will be used to assign new class of PVD

  Over 5 years

Secondary Outcomes (1)

• Identification of biomarkers for PVD

  5 years

Study Arms (3)

Controls

Healthy controls No intervention as this is an observational study

Other: No Intervention

Pulmonary Vascular Disease

Pulmonary Vascular Disease at risk for pulmonary hypertension

Other: No Intervention

Pulmonary Hypertension

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

Other: No Intervention

Interventions

No Intervention OTHER

There is no intervention in this observational study

Controls; Pulmonary Hypertension; Pulmonary Vascular Disease

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with pulmonary hypertension, Pulmonary hypertension vascular, and healthy controls

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• The Cleveland Clinic: lead
• Brigham and Women's Hospital: collaborator
• Columbia University: collaborator
• Weill Medical College of Cornell University: collaborator
• Johns Hopkins University: collaborator
• Mayo Clinic: collaborator
• University of Arizona: collaborator
• Vanderbilt University: collaborator

Study Sites (7)

University of Arizona Health Sciences Center

Tucson, Arizona, 85721, United States

Location

Johns Hopkins University School of Medicine

Baltimore, Maryland, 21287, United States

Location

Brigham and Women's Hospital

Boston, Massachusetts, 02115, United States

Location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Weill Cornell Medicine

New York, New York, 10065, United States

Location

New York Medical College

Valhalla, New York, 10595, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37232, United States

Location

Related Publications (7)

• 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.

  PMID: 35953136 BACKGROUND

• 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.

  PMID: 29074534 BACKGROUND

• Menon DP, 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 Dec;22(12):1863-1873. doi: 10.1513/AnnalsATS.202503-333OC.

  PMID: 40680159 DERIVED

• 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.

  PMID: 40335254 DERIVED

• 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.

  PMID: 38837273 DERIVED

• 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.

  PMID: 37968017 DERIVED

• 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.

  PMID: 32088984 DERIVED

Related Links

• PVDOMICS study protocol

Biospecimen

Retention: SAMPLES WITH DNA

Samples for Omics analyses, including DNA

MeSH Terms

Conditions

Pulmonary Arterial Hypertension

Condition Hierarchy (Ancestors)

Hypertension, Pulmonary; Lung Diseases; Respiratory Tract Diseases

Study Officials

• Nicholas S Hill, MD

  Tufts University Medical Center

  STUDY CHAIR

• Lei Xiao, MD

  National Heart, Lung, and Blood Institute (NHLBI)

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 30, 2016
• First Posted: December 2, 2016
• Study Start: November 1, 2016
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2029
• Last Updated: November 17, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: Being determined
• Access Criteria: Being decided

Locations

US (7)