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RecruitingIdiopathic Pulmonary Arterial HypertensionHeritable Pulmonary Arterial HypertensionUnaffected Mutation Carriers: Healthy Participants With a Known BMPR2 Gene Mutation and Normal Pulmonary Pressure and RV Function on Echo

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Eligible age

15–80 yrs

Accepts

All genders

Locations

1 state

Healthy volunteers

No

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About this study

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

Sponsor: Vanderbilt University Medical Center

You may qualify if…

  • ✓ 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.

You may not qualify if…

  • ✕ 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.

Where it's recruiting

Tennessee

Nashville

Source: ClinicalTrials.gov · NCT05584722 · last updated 2026-03-10