Genomic and Biomarker Studies in Pulmonary Hypertension

Investigating Genetic and Blood Indicators in Lung Artery High Blood Pressure

R
Roberto Machado, MD

Primary Investigator

Enrolling By Invitation
100 years or below
All
Phase N/A
1 Location

Brief description of study

Pulmonary hypertension (PH) is an uncommon disease characterized by increased blood pressure in the pulmonary artery, which can lead to right heart failure and death. PH may be related to conditions such as collagen vascular diseases like scleroderma, congenital heart defect, portal hypertension, HIV infection, or exposure to drugs/toxins such as anorexigens or methamphetamine. It can also be a complication of other heart or lung diseases, such as pulmonary fibrosis. The causes of PH are not well understood, and treatments are currently limited. 
 
The goal of this study is to understand more about what causes PH and to identify prognostic biomarkers in the blood. It will include genetic studies to look for changes that make some people more likely to develop PH. Blood cells from patients' samples may be re-programmed into vascular cells, to enable studies on the cell types that are most involved in causing PH. These studies will help us to understand the differences between cells from people with or without PH, and in future to test new drugs that might correct these changes.
 
THIS STUDY IS ENROLLING BY INVITATION ONLY - Patients with pulmonary hypertension may present to the hospital with cardio-pulmonary failure and require sedation and mechanical ventilation. Critical illness may affect cognitive function. Subjects will be asked to give additional samples of blood, which will be taken as part of a routine blood draw, or from an existing catheter (small tube placed in blood vessel that is used to give fluids, drugs and to take blood samples).

Detailed description of study

The purpose of this study is to collect specimens and data from Pulmonary Hypertension patients at baseline, at months 3,6,12 of treatment, and during a hospitalization for exacerbation of PH. Participants will also be asked to complete a questionnaire of demographic and socioeconomic variables. All samples will be stored for future research purposes. The subject's medical records will also be reviewed periodically for 10 years to make sure that all information is current.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Pulmonary hypertension
  • Age: 100 years or below
  • Gender: All

Inclusion criteria:
  • All adult patients (>18) at risk for the development of pulmonary hypertension, being evaluated for the presence of pulmonary hypertension or with a diagnosis of pulmonary hypertension will be screened for enrollment. Individuals with a family history of PH, or diseases that predispose to the development of pulmonary hypertension (such as, for example, scleroderma or other collagen vascular disorders, portal hypertension, HIV infection, congenital heart defects, hemoglobinopathies, chronic hypoxic lung diseases, left ventricular dysfunction, pulmonary thromboembolic disease) will be considered to be at risk for pulmonary hypertension and they may be enrolled in the study prior to the interventional studies that would provide a definitive diagnosis, such as cardiac catheterization. Individuals will be classified as pulmonary hypertension cases if they have the confirmation via clinically indicated right heart catheterization.

This study investigates pulmonary hypertension, a disease where the blood pressure in the lungs' arteries is too high, which can lead to heart problems. Pulmonary hypertension can be linked to other conditions like scleroderma, a condition that affects the skin and connective tissues, or be caused by certain drugs. The purpose of this study is to find out more about what causes this disease and to identify markers in the blood that might predict its development.

Participants in the study will have blood samples taken. These samples may be used to create cells that help study the disease. Participants will also fill out a questionnaire about their background and health. The study will collect information from medical records over 10 years to keep track of participants' health.

  • Who can participate: Adults over 18 at risk for or diagnosed with pulmonary hypertension can participate, including those with a family history of the disease or related conditions like scleroderma, HIV, or congenital heart defects.
  • Study details: Participants will provide blood samples during routine blood draws or from existing catheters. They will also complete a questionnaire about their demographic and socioeconomic background. Medical records will be reviewed for up to 10 years.
Updated on 16 Dec 2025. Study ID: PULM-IIR-BIOBANKING-STUDY, 1708709756
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Interested in the study?

This study is accepting only persons who receive care at a certain clinic or doctor or who are part of an invited group. Questions about this study can be directed to the study team listed in the description or contact your doctor to see if you are eligible.

Accepting Referrals by Invitation Only