Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

RECRUITING

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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

🗓️ Study Start (Actual) 1 November 2022

🗓️ Primary Completion (Estimated) 31 August 2026

✅ Study Completion (Estimated) 31 August 2026

👥 Enrollment (Estimated) 150

🔬 Study Type OBSERVATIONAL

📊 Phase N/A

Locations:

📍 Nashville, Tennessee, United States

📋 Eligibility Criteria

Description

Inclusion 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.

Exclusion Criteria:

* 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 (CHILD, ADULT, OLDER_ADULT)

Sexes Eligible for Study: ALL

Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

First Submitted 14 October 2022
First Submitted that Met QC Criteria 14 October 2022
First Posted 18 October 2022

Study Record Updates

Last Update Submitted that Met QC Criteria 10 January 2024
Last Update Posted 11 January 2024
Last Verified January 2024