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
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Change in Quality of Life as measured by the emPHasis-10
Timeframe: Baseline to 32 months
Change in Quality of Life as measured by the Pediatric Quality of Life Inventory Version 4.0
Timeframe: Baseline to 32 months
Change in meters walked in six-minute walk distance (meters)
Timeframe: Baseline to 32 months
Change in diffusing capacity for carbon monoxide (DLCO) on the Pulmonary Function Test
Timeframe: Baseline to 32 months
Change in Tricuspid Annular Plane Systolic Excursion (TAPSE), expressed in mm.
Timeframe: Baseline to 32 months
Change in Tricuspid Annular Velocity (S'), as assessed by echocardiogram results, expressed in cm/sec
Timeframe: Baseline to 32 months
Change in Estimated Right Ventricle (RV) Systolic Pressure, as assessed by echocardiogram results, expressed in mmHg
Timeframe: Baseline to 32 months
Change in Right Ventricle (RV) Free Wall Longitudinal Strain, as assessed by echocardiogram results, and expressed as percent (%) change in myocardial deformation.
Timeframe: Baseline to 32 months
Change in Daily Step Count as measured by the mHealth device mean daily step count
Timeframe: Baseline to 32 months
Change in Resting Heart Rate (beats per minute)
Timeframe: Baseline to 32 months
Intensity of activity
Timeframe: Baseline to 32 months
Number of patients with a PAH-related Hospitalization Incidence
Timeframe: Baseline to 32 months
Change in Patient Medication Regimen, as measured by percentage (%) of subjects with a change in medication regimen
Timeframe: Baseline to 32 months
Number of patients with an incidence of death
Timeframe: Baseline to 32 months
Number of patients with an incidence of lung transplantation
Timeframe: Baseline to 32 months