Understanding risk and resilience in pulmonary arterial hypertension

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

This study is trying to understand why some people with certain genetic changes get pulmonary arterial hypertension while others don’t, by looking at different markers in their bodies over time.

Quick facts

• Study type: Observational
• Enrollment: 150 (estimated)
• Ages: 15 Years to 80 Years
• Sex: All
• Sponsor: Vanderbilt University Medical Center (Academic / other)
• Locations: 1 site (Nashville, Tennessee)
• Trial ID: NCT05584722 on ClinicalTrials.gov

What this trial studies

This observational study aims to explore the molecular markers associated with pulmonary arterial hypertension (PAH) and identify why some individuals with genetic mutations develop the disease while others do not. By focusing on high-risk populations, including those with known BMPR2 gene mutations and healthy controls, the study will conduct longitudinal assessments to gather dynamic data on disease progression and resilience. The goal is to create molecular signatures that could lead to new therapeutic targets and improve understanding of PAH severity.

Who should consider this trial

Good fit: Ideal candidates include children and adults aged 15-80 with idiopathic or heritable pulmonary arterial hypertension, unaffected mutation carriers with known BMPR2 mutations, and healthy individuals without cardiopulmonary disease.

Not a fit: Patients who are wheelchair-bound, bed-bound, or have functional class IV heart failure will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnostic and therapeutic strategies for individuals at risk of developing pulmonary arterial hypertension.

How similar studies have performed: While there have been studies on molecular profiling in PAH, this longitudinal approach focusing on genetic susceptibility is relatively novel and has not been extensively tested.

Eligibility criteria

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.

Where this trial is running

Nashville, Tennessee

• Vanderbilt University Medical Center — Nashville, Tennessee, United States (Recruiting)

Study contacts

• Principal investigator: Evan Brittain, MD — Vanderbilt Medical Center
• Study coordinator: Kelly Burke, RN

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; pulmonary hypertension