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Understanding Risk and Resilience in Pulmonary Arterial Hypertension

This observational study aims to better understand pulmonary arterial hypertension (PAH), a serious lung condition. Researchers are looking for people aged 15 to 80 who have been diagnosed with idiopathic (unknown cause) or heritable (runs in families) PAH. They are also including healthy individuals with a known BMPR2 gene mutation (a genetic change linked to PAH) but who do not have PAH symptoms, as well as healthy individuals without heart or lung disease. The study will track changes in quality of life, measured by questionnaires (emPHasis-10 and Pediatric Quality of Life Inventory Version 4.0), and how far participants can walk in six minutes over 32 months. This will help identify factors that make some people more susceptible to PAH and others more resilient, potentially leading to new treatments. The current recruitment status is unclear.

Study design
This is an observational study planning to enroll 150 participants. It aims to understand the progression of pulmonary arterial hypertension and identify molecular features related to risk and resilience.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for 32 months, with quality of life and six-minute walk distance measured at baseline and at the end of this period.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05584722

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Recruiting
Not specifiedAges 15–80Observational
Vanderbilt University Medical Center
~150 participants
Updated 2026-03-10 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Change in Quality of Life as measured by the emPHasis-10
Measured over Baseline to 32 months
+14 more outcomes measured

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

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Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • Vanderbilt University Medical Center

    Nashville, Tennesseestudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

  • Evan Brittain, MD · PRINCIPAL_INVESTIGATOR · Vanderbilt Medical Center
  • Anna Hemnes, MD · PRINCIPAL_INVESTIGATOR · Vanderbilt Medical Center
  • Eric Austin, MD · PRINCIPAL_INVESTIGATOR · Vanderbilt Medical Center

Who to contact

Kelly Burke, RN
[email protected]
(615) 343-4682
Email the study team

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Eligibility criteria

Inclusion

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

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.

What this trial measures

  • Change in Quality of Life as measured by the emPHasis-10Baseline to 32 months

    The emPHasis-10 is a short and easy questionnaire that consists of 10 items that address breathlessness, fatigue, control, and confidence. Each item is scored on a semantic differential six-point scale (0-5), with contrasting adjectives at each end. A total emPHasis-10 score is derived using simple aggregation of the 10 items. emPHasis-10 scores range from 0 to 50, higher scores indicate worse quality of life.

  • Change in Quality of Life as measured by the Pediatric Quality of Life Inventory Version 4.0Baseline to 32 months

    The PedsQL (Pediatric Quality of Life Inventory) is a modular instrument for measuring health-related quality of life in children and adolescents ages 2 to 18. The PedsQL 4.0 Generic Core Scales are multidimensional child self-report and parent proxy-report scales developed as the generic core measure that consists of 23 items applicable for healthy school and community populations, as well as pediatric populations with acute and chronic health conditions.

  • Change in meters walked in six-minute walk distance (meters)Baseline to 32 months

    The 6MWT measures the distance (in meters), a participant can walk at a comfortable speed on a flat, hard surface in 6 minutes. The intent of the 6MWD test is to evaluate exercise capacity associated with carrying out daily physical activities.

  • Change in diffusing capacity for carbon monoxide (DLCO) on the Pulmonary Function TestBaseline to 32 months

    Pulmonary function tests (PFTs) are noninvasive tests that show how well the lungs are working. The tests measure lung volume, capacity, rates of flow, and gas exchange. DLCO measures the quantity of carbon monoxide (CO) transferred per minute from alveolar gas to red blood cells in pulmonary capillaries and is expressed as mL/min/mm Hg.

  • Change in Tricuspid Annular Plane Systolic Excursion (TAPSE), expressed in mm.Baseline to 32 months

    Change from baseline in Tricuspid Annular Plane systolic Excursion (TAPSE) expressed in mm on echocardiogram results at 12-16 months and 24-32 months.

  • Change in Tricuspid Annular Velocity (S'), as assessed by echocardiogram results, expressed in cm/secBaseline to 32 months

    Change from baseline in Tricuspid Annular Velocity (S') on echocardiogram results at 12-16 months and 24-32 months and expressed in cm/sec.

  • Change in Estimated Right Ventricle (RV) Systolic Pressure, as assessed by echocardiogram results, expressed in mmHgBaseline to 32 months

    Change from baseline in the estimated right ventricular systolic pressure on echocardiogram results at 12-16 months and 24-32 months and expressed in mmHg.

  • 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

    Change from baseline in right ventricle free wall longitudinal strain on echocardiogram results at 12-16 months and 24-32 months and expressed as percent (%) change in myocardial deformation.

  • Change in Daily Step Count as measured by the mHealth device mean daily step countBaseline to 32 months

    Change from the baseline activity monitoring period to the 12-16 month activity monitoring period to the 24-32 month activity monitoring period. Data obtained by the mHealth device.

  • Change in Resting Heart Rate (beats per minute)Baseline to 32 months

    Monitored regularly using activity tracking device (per second when active, per 5 seconds when inactive). Subject's resting and peak exercise heart rate will also be recorded at baseline, 12-16 months, and 24-32 months. Targets exercise capacity. Heart rate is expressed as beats per minute.

  • Intensity of activityBaseline to 32 months

    Intensity of activity is categorized as rest, light, moderate, and vigorous based on calculated metabolic equivalents.

  • Number of patients with a PAH-related Hospitalization IncidenceBaseline to 32 months

    To assess PAH-related hospitalization incidences from baseline to 12-16 months and 24-32 months. Number of patients will be assessed.

  • Change in Patient Medication Regimen, as measured by percentage (%) of subjects with a change in medication regimenBaseline to 32 months

    Change from baseline in patient medication regimen from baseline to 12-16 months and 24-32 months as measured by percentage (%) of subjects with a change in medication regimen.

  • Number of patients with an incidence of deathBaseline to 32 months

    To assess incidences of death from baseline to 12-16 months and 24-32 months. Number of patients will be assessed.

  • Number of patients with an incidence of lung transplantationBaseline to 32 months

    To assess incidences of lung transplantation from baseline to 12-16 months and 24-32 months. Number of patients will be assessed.