The RARE-PAH Study
Are you part of a family impacted by
HERITABLE Pulmonary Arterial Hypertension?
What is Heritable Pulmonary Hypertension?
- When two or more members of one family have been diagnosed with an inherited form of Pulmonary Arterial Hypertension (PAH), the type of PAH the family members are said to have is called “Heritable pulmonary arterial hypertension (HPAH).”
- In some HPAH families, a genetic mutation can be identified in the blood as the cause of PAH.
- Half of the children of a parent with a heritable PAH mutation will get that altered gene. However, not all people who inherit a DNA mutation that causes PAH will ever develop PAH in their lifetime.
Risk and Resilience in Pulmonary Arterial Hypertension and
Genetically Susceptible Individuals
ABOUT THE STUDY
The goal of this study is to improve the understanding of the role of genetics in families impacted by Heritable Pulmonary Arterial Hypertension (HPAH).
Identification of gene changes, hormonal and blood abnormalities, and how these work together will help in understanding the disease process and may lead to improved therapy.
Importantly, family members in a HPAH family who do not have PAH but may carry a genetic marker may help us learn more about potential gene and blood changes, and hormonal and environmental factors of pulmonary hypertension.
ENROLLING
Individuals aged 13-80
Patients diagnosed with Heritable Pulmonary Arterial Hypertension (PAH that runs in the family with two or more family members with definite PAH)
Individuals without Pulmonary Hypertension who are part of a family impacted by HPAH (Persons without a prior HPAH diagnosis who may carry a HPAH-related genetic mutation)
STUDY DETAILS
If you are eligible, we will first complete genetic testing if it has not already been completed. You will receive these results if you wish.
Depending on genetic testing results, we may ask you to complete up to three study visits over three years, which can be completed remotely or at Vanderbilt in Nashville.
Participants who complete any of the study visits may receive $100 per visit up to $300 total.
Two ways to participate
1. At Vanderbilt
If you are willing to travel to Vanderbilt University Medical Center in Nashville, each visit will include a physical exam, a blood draw, an ultrasound of the heart, lung function measurement, a six-minute walk test, questionnaires, and wearing a Fitbit for three months.
2. Outside of Vanderbilt
If you cannot travel to Vanderbilt University Medical Center in Nashville, a home-based visit could include a blood draw, an ultrasound of the heart, questionnaires, and wearing a Fitbit for three months.