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

First listed
Oct 18, 2022
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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