Recruiting

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Pulmonary arterial hypertension (PAH) is a severe disease with a delayed diagnosis and markedly elevated mortality. High-risk populations, such as those with known genetic defects, provide a unique opportunity to determine the features of susceptibility and resilience to PAH. This proposal will fundamentally overturn the prevailing understanding of PAH by creating molecularly-driven signatures of susceptibility and resilience, provide novel insight into disease severity, and potentially identify new therapeutic…

ClinicalTrials.gov IDNCT05584722

PhaseNot Applicable

Enrollment150

SponsorVanderbilt University Medical Center

Age15 Years

SexALL

I'm interested View official listing

Conditions studied

Idiopathic Pulmonary Arterial Hypertension, Heritable Pulmonary Arterial Hypertension, Unaffected Mutation Carriers: Healthy Participants With a Known BMPR2 Gene Mutation and Normal Pulmonary Pressure and RV Function on Echo, Healthy Individuals With no Cardiopulmonary Disease

About this study

Primary outcomes

Change in Quality of Life as measured by the emPHasis-10 (Baseline to 32 months)
Change in Quality of Life as measured by the Pediatric Quality of Life Inventory Version 4.0 (Baseline to 32 months)
Change in meters walked in six-minute walk distance (meters) (Baseline to 32 months)
Change in diffusing capacity for carbon monoxide (DLCO) on the Pulmonary Function Test (Baseline to 32 months)
Change in Tricuspid Annular Plane Systolic Excursion (TAPSE), expressed in mm. (Baseline to 32 months)
Change in Tricuspid Annular Velocity (S'), as assessed by echocardiogram results, expressed in cm/sec (Baseline to 32 months)
Change in Estimated Right Ventricle (RV) Systolic Pressure, as assessed by echocardiogram results, expressed in mmHg (Baseline to 32 months)
Change in Right Ventricle (RV) Free Wall Longitudinal Strain, as assessed by echocardiogram results, and expressed as percent (%) change in myocardial deformation. (Baseline to 32 months)

Eligibility information

Inclusion Criteria: * Children and Adults, aged 15 - 80 * Diagnosed with idiopathic or heritable, pulmonary arterial hypertension (PAH), defined according to standard criteria * Unaffected Mutation Carriers: Healthy participants with a known BMPR2 gene mutation and normal pulmonary pressure and RV function on echo * Healthy Controls: Healthy individuals without cardiopulmonary disease. * WHO functional class I-III * Stable PAH-specific medication regimen for three months prior to enrollment. Subjects with only a single diuretic adjustment in the prior three months will be included. Adjustments in IV prostacyclin for side effect management are allowed. Exclusion Criteria: * Prohibited from normal activity due to wheelchair bound status, bed bound status, reliance on a cane/walker, activity-limiting angina, activity-limiting osteoarthritis, or other condition that limits activity. * Pregnancy * Diagnosis of PAH etiology other than idiopathic, heritable * Functional class IV heart failure * Requirement of \> 2 diuretic adjustment in the prior three months.

Study locations

Vanderbilt University Medical Center, Nashville, Tennessee 37232 United States

Before you participate: Varda Clinical is an independent discovery tool, not the study sponsor or a medical provider. Eligibility can only be determined by the official study team. Discuss potential risks and benefits with a qualified healthcare professional.

Source: ClinicalTrials.gov. Record last refreshed by Varda Clinical: 2026-09-27.