Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

Launched by VANDERBILT UNIVERSITY MEDICAL CENTER · Oct 14, 2022

Keywords

ClinConnect Summary

This clinical trial is studying pulmonary arterial hypertension (PAH), a serious lung condition that can be hard to diagnose and often leads to severe health issues. The trial aims to understand why some people are more at risk for developing PAH, especially those with specific genetic factors. By examining individuals with idiopathic PAH (where the cause is unknown) and those who carry a genetic mutation related to the condition but do not have PAH, researchers hope to uncover important information about how PAH develops and how it can be treated more effectively.

To participate, individuals aged 15 to 80 who have been diagnosed with idiopathic or heritable PAH, as well as healthy individuals with a known genetic mutation related to PAH, may be eligible. Participants can expect to undergo assessments to help researchers learn more about the disease. It's important to note that those with severe limitations on their daily activities or who are pregnant cannot join the study. This trial is a significant step towards improving our understanding of PAH and could lead to new ways to help those affected by the condition.

Gender

ALL

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.