Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals
Recruiting · NCT05584722 · Observational (researchers observe without assigning treatment) · Lead sponsor: Vanderbilt University Medical Center
View the official record on ClinicalTrials.gov →What this trial is about
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
Who can take part
Age range
15 Years to 80 Years
Sex
All (male and female)
Healthy volunteers
No - a diagnosis or condition is required
Phase
Not specified
Study type
Observational (researchers observe without assigning treatment)
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 it is running
1 location listed across 1 US state.
- Vanderbilt University Medical Center - Nashville, Tennessee, United States