Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Recruiting now

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

In brief

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

Key facts

Study ID

NCT05584722

Run by

Vanderbilt University Medical Center

People needed

150

Starts

2022-11-01

Expected to finish

2026-08-31

Last updated by the study team

2026-03-10

Who can join

Age: 15 and older, up to 80. Sex: any. Healthy volunteers: not accepted.

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 is running

• Vanderbilt University Medical Center — Nashville, Tennessee, United States (enrolling)

Full record on ClinicalTrials.gov

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