Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

ConditionsIdiopathic 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

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age15-80

SponsorVanderbilt University Medical Center

About this trial

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

Eligibility criteria

Qualifiers

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.

Disqualifiers

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

Trial design

Treatments tested in this trial

Not listed

Trial groups

150 Participants

are grouped into 3 trial groups

Sponsors and collaborators

Vanderbilt University Medical Center

Lead sponsor

Source ClinicalTrials.gov