Home › Familial Primary Pulmonary Hypertension › NCT05584722
Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals
Who can join
Ages 15 to 80 · All sexes
Full eligibility criteria
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.
About the 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 · Participants: 150 · Started: Nov 1, 2022
Contact the study team
- Kelly Burke, RN · Phone: (615) 343-4682
- Alisha Lindsey, RT · Phone: (615) 343-4682
Official record on ClinicalTrials.gov — NCT05584722
Locations in the U.S.
| Tennessee | Vanderbilt University Medical Center, Nashville |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.