RecruitingNCT05584722

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Sponsor

Vanderbilt University Medical Center

Enrollment

150 participants

Start Date

Nov 1, 2022

Study Type

OBSERVATIONAL

Conditions

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

Summary

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

Min Age: 15 YearsMax Age: 80 Years

Inclusion Criteria6

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 Criteria5

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.

Locations(1)

Vanderbilt University Medical Center

Nashville, Tennessee, United States

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NCT05584722

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