Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals
NCT05584722 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 150
Last updated 2026-03-10
Summary
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
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
Sponsors & Collaborators
-
Vanderbilt University Medical Center
lead OTHER
Principal Investigators
-
Evan Brittain, MD · Vanderbilt Medical Center
-
Anna Hemnes, MD · Vanderbilt Medical Center
-
Eric Austin, MD · Vanderbilt Medical Center
Eligibility
- Min Age
- 15 Years
- Max Age
- 80 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2022-11-01
- Primary Completion
- 2026-08-31
- Completion
- 2026-08-31
Countries
- United States
Study Locations
More Related Trials
-
Identification of Heritable CTEPH
NCT03579862 ·Status: UNKNOWN
-
Molecular Investigation of Genetic Factors in CArDiovascular Diseases Using an BIOresource of Healthy Volunteers
NCT03038750 ·Status: TERMINATED
-
Impact of Polymorphism on Pulmonary Pressure in Subjects With Pulmonary Hypertension of Different Cause
NCT00893178 ·Status: COMPLETED
-
Family Blood Pressure Program - GenNet Network
NCT00005268 ·Status: COMPLETED
-
Effects of PA-1 Transcriptional Regulation on Monocyte Function
NCT00512369 ·Status: TERMINATED
-
Prospective Phenotyping for Genetic Subtypes of Early-onset Atrial Fibrillation
NCT05190679 ·Status: COMPLETED
-
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
NCT03440697 ·Status: ACTIVE_NOT_RECRUITING
-
Genetics of Peripheral Artery Genomics
NCT00615121 ·Status: COMPLETED
-
Genetics of Hypertension in Blacks
NCT00005387 ·Status: COMPLETED
-
Stratification of Arrhythmic Risk and/or Heart Failure Risk in Patients With Hereditary Heart Disease
NCT07257289 ·Status: RECRUITING
-
Genes Associated With Development of Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions
NCT02691689 ·Status: RECRUITING ·Phase: NA
-
Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection
NCT02852603 ·Status: COMPLETED
-
Genetic Basis of Mitral Valve Prolapse
NCT01719211 ·Status: RECRUITING
-
Genetics of Aortic Stenosis: From Family Forms to the Common Forms
NCT02890407 ·Status: COMPLETED
-
Mayo AVC Registry and Biobank
NCT03049254 ·Status: RECRUITING
-
Identification of Genetic Markers Modulating Rhythmic Risk Among Patients With Severe Cardiomyopathy
NCT02852018 ·Status: COMPLETED
-
Family Blood Pressure Program - SAPPHIRe Network
NCT00005270 ·Status: COMPLETED
-
Rutgers University Study of the Genetics of Pulmonary Hypertension
NCT07217522 ·Status: RECRUITING
-
Genetic Susceptibility to Cardiovascular Disease in Patients on Kidney Dialysis
NCT00340119 ·Status: COMPLETED
-
Genetic Epidemiology--Development of Cardiovascular Risk
NCT00005512 ·Status: COMPLETED
-
Genetics of Hypertension Associated Treatments (GenHAT)
NCT00006294 ·Status: COMPLETED
-
Genetic Basis of Abdominal Aortic Aneurysm
NCT00005526 ·Status: COMPLETED
-
Study on Susceptibility Genes and Pathogenic Mechanism of Non-syndromic Familial Aortic Dissection
NCT04439565 ·Status: UNKNOWN
-
Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
NCT00005313 ·Status: COMPLETED
-
Vascular Disease Discovery Protocol
NCT03538639 ·Status: RECRUITING