Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Part of paid clinical trials in Nashville, Tennessee.

Sponsor
Vanderbilt University Medical Center
Study ID
NCT05584722
Status
Recruiting
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Conditions

  • Healthy Individuals With no Cardiopulmonary Disease
  • Heritable Pulmonary Arterial Hypertension
  • Idiopathic Pulmonary Arterial Hypertension
  • Unaffected Mutation Carriers: Healthy Participants With a Known BMPR2 Gene Mutation and Normal Pulmonary Pressure and RV Function on Echo

Eligibility Criteria

Sex
ALL
Age
15 Years - 80 Years
Healthy Volunteers
Not accepted

Study Details

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 Dates

Start date
Nov 1, 2022
Status verified
Mar 2026
Primary completion
Aug 31, 2026
Completion
Aug 31, 2026

Study Design

Enrollment
150 participants (estimated)

Arms

  • Arm: Idiopathic or Heritable Pulmonary Arterial Hypertension
    Patients diagnosed with pulmonary arterial hypertension, either idiopathic or heritable, defined according to standard criteria.
  • Arm: Unaffected Mutation Carriers
    Healthy participants with a known BMPR2 gene mutation and normal pulmonary pressure and RV function on echo.
  • Arm: Healthy Controls
    Healthy individuals without cardiopulmonary disease

Primary Outcome Measure

Change in Quality of Life as measured by the emPHasis-10 [ Time Frame: Baseline to 32 months ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Vanderbilt University Medical CenterNashvilleTennessee37232
Kelly Burke, RN
[email protected]

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By research site
Vanderbilt University Medical Center· Nashville, TN

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