Health TrialsbyHealthPanel

Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals

ConditionsIdiopathic Pulmonary Arterial HypertensionHeritable Pulmonary Arterial HypertensionUnaffected Mutation Carriers: Healthy Participants With a Known BMPR2 Gene Mutation and Normal Pulmonary Pressure and RV Function on EchoHealthy Individuals With no Cardiopulmonary Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age15-80
SponsorVanderbilt University Medical Center

About this trial

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

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

Disqualifiers

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

Trial population

* 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.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

150 Participants
are grouped into 3 trial groups
Group A: Idiopathic or Heritable Pulmonary Arterial Hypertension
Group B: Unaffected Mutation Carriers
Group C: Healthy Controls

Trial outcomes

Primary outcomes

1

Change in Quality of Life as measured by the emPHasis-10

The emPHasis-10 is a short and easy questionnaire that consists of 10 items that address breathlessness, fatigue, control, and confidence. Each item is scored on a semantic differential six-point scale (0-5), with contrasting adjectives at each end. A total emPHasis-10 score is derived using simple aggregation of the 10 items. emPHasis-10 scores range from 0 to 50, higher scores indicate worse quality of life.

Time frame
Baseline to 32 months
2

Change in Quality of Life as measured by the Pediatric Quality of Life Inventory Version 4.0

The PedsQL (Pediatric Quality of Life Inventory) is a modular instrument for measuring health-related quality of life in children and adolescents ages 2 to 18. The PedsQL 4.0 Generic Core Scales are multidimensional child self-report and parent proxy-report scales developed as the generic core measure that consists of 23 items applicable for healthy school and community populations, as well as pediatric populations with acute and chronic health conditions.

Time frame
Baseline to 32 months
3

Change in meters walked in six-minute walk distance (meters)

The 6MWT measures the distance (in meters), a participant can walk at a comfortable speed on a flat, hard surface in 6 minutes. The intent of the 6MWD test is to evaluate exercise capacity associated with carrying out daily physical activities.

Time frame
Baseline to 32 months
4

Change in diffusing capacity for carbon monoxide (DLCO) on the Pulmonary Function Test

Pulmonary function tests (PFTs) are noninvasive tests that show how well the lungs are working. The tests measure lung volume, capacity, rates of flow, and gas exchange. DLCO measures the quantity of carbon monoxide (CO) transferred per minute from alveolar gas to red blood cells in pulmonary capillaries and is expressed as mL/min/mm Hg.

Time frame
Baseline to 32 months

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Vanderbilt University Medical Center

Lead sponsor

Source ClinicalTrials.gov
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