Recruiting

Observational Study

Sponsor:

Vanderbilt University Medical Center

Code:

NCT05584722

Conditions

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

Eligibility Criteria

Sex: All

Age: 15 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

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 targets.

Funding Source - FDA OOPD

Conditions

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

Study ID

NCT05584722

Start date

Nov 1, 2022

Status verified date

Mar, 2026

Completion date

Aug 31, 2026

Anticipated

Primary completion date

Aug 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 15 - 70+

Healthy Volunteers: Not accepted

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 Design

Enrollment

150 participants

Anticipated

Interventions and Outcome Measures

Arms

Idiopathic or Heritable Pulmonary Arterial Hypertension

Patients diagnosed with pulmonary arterial hypertension, either idiopathic or heritable, 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

Primary outcome measure

  • Change in Quality of Life as measured by the emPHasis-10 [ Time Frame: Baseline to 32 months ]
  • Change in Quality of Life as measured by the Pediatric Quality of Life Inventory Version 4.0 [ Time Frame: Baseline to 32 months ]
  • Change in meters walked in six-minute walk distance (meters) [ Time Frame: Baseline to 32 months ]
  • Change in diffusing capacity for carbon monoxide (DLCO) on the Pulmonary Function Test [ Time Frame: Baseline to 32 months ]
  • Change in Tricuspid Annular Plane Systolic Excursion (TAPSE), expressed in mm. [ Time Frame: Baseline to 32 months ]
  • Change in Tricuspid Annular Velocity (S'), as assessed by echocardiogram results, expressed in cm/sec [ Time Frame: Baseline to 32 months ]
  • Change in Estimated Right Ventricle (RV) Systolic Pressure, as assessed by echocardiogram results, expressed in mmHg [ Time Frame: 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. [ Time Frame: Baseline to 32 months ]
  • Change in Daily Step Count as measured by the mHealth device mean daily step count [ Time Frame: Baseline to 32 months ]
  • Change in Resting Heart Rate (beats per minute) [ Time Frame: Baseline to 32 months ]
  • Intensity of activity [ Time Frame: Baseline to 32 months ]
  • Number of patients with a PAH-related Hospitalization Incidence [ Time Frame: Baseline to 32 months ]
  • Change in Patient Medication Regimen, as measured by percentage (%) of subjects with a change in medication regimen [ Time Frame: Baseline to 32 months ]
  • Number of patients with an incidence of death [ Time Frame: Baseline to 32 months ]
  • Number of patients with an incidence of lung transplantation [ Time Frame: Baseline to 32 months ]

Central Contacts and Locations

Central contacts

Kelly Burke, RN

(615) 343-4682kelly.burke@vumc.org

Alisha Lindsey, RT

(615) 343-4682alisha.lindsey@vumc.org

Locations

Vanderbilt University Medical Center

Recruiting

Nashville, Tennessee, United States, 37232

Contacts

Kelly Burke, RN

kelly.burke@vumc.org

More Information

Sponsor

Vanderbilt University Medical Center

Last update posted

Mar 10, 2026

Last verified

Mar, 2026

Keywords

  • pulmonary hypertension

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Vanderbilt University Medical Center on 2026-03-10.