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

Plain Language Summary

Simplified for easier understanding

This study is looking at why some people with a specific gene mutation (BMPR2) develop pulmonary arterial hypertension (PAH) — a serious condition where blood pressure in the lungs is abnormally high — while others with the same mutation never get the disease. Researchers are also studying people who already have PAH. **You may be eligible if...** - You are 15–80 years old - You have been diagnosed with idiopathic or hereditary PAH (high blood pressure in the lungs with no other cause) - OR you carry the BMPR2 gene mutation but do not have PAH (healthy mutation carriers) - OR you are a healthy volunteer without heart or lung disease - Your PAH medications have been stable for at least 3 months **You may NOT be eligible if...** - You are unable to exercise (wheelchair-bound, bed-bound, or rely on walking aids) - You have other serious health conditions that would make participation unsafe - Your disease is not stable Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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