Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Description

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

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

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Study Overview

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Study Details

Study overview

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

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Condition
Idiopathic Pulmonary Arterial Hypertension
Intervention / Treatment

-

Contacts and Locations

Nashville

Vanderbilt University Medical Center, Nashville, Tennessee, United States, 37232

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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.

Ages Eligible for Study

15 Years to 80 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Vanderbilt University Medical Center,

Evan Brittain, MD, PRINCIPAL_INVESTIGATOR, Vanderbilt Medical Center

Anna Hemnes, MD, PRINCIPAL_INVESTIGATOR, Vanderbilt Medical Center

Eric Austin, MD, PRINCIPAL_INVESTIGATOR, Vanderbilt Medical Center

Study Record Dates

2026-08-31