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This is an observational study that examines disease risk and resilience by comparing people with pulmonary arterial hypertension (high pressure in the lung arteries), healthy individuals who carry a BMPR2 gene change, and healthy controls. People aged 15 to 80 with idiopathic or heritable pulmonary arterial hypertension, along with the specified healthy groups, may take part. It is a non-interventional (observational) study and is currently recruiting.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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.