Clinical Trials

Have you had a genetic test that revealed a change (mutation) in the genes that affect your body's elastic fibers? This study aims to learn more about the impact of changes in connective tissue genes on an individual's overall health. To participate in this study, you or your child must be between the ages of 2 and 100 years old. You must have also had a genetic test that identified changes in a gene that affects elastic fibers (e.g., ELN, LOX, MFAP4, FBLN5 and EFEMP). This study is located at the NIH Clinical Center in Bethesda, Maryland.

Do you or a loved one have pneumonia? This study will test whether combining two medicines to reduce inflammation of the airway and to keep it open may help prevent respiratory failure in people who have pneumonia. To participate in this study, you must be at least 18 years old and have severe pneumonia with low blood oxygen levels.

Do you have symptoms of a lung disease (such as long-term wet cough, bronchiectasis, or recurrent pneumonia) with no genetic diagnosis? This study aims to develop new ways to diagnose primary ciliary dyskinesia (PCD) or primary immune deficiency (PID), two conditions that can have similar symptoms. Researchers will combine information from genetic testing, lung imaging, and lung function tests to diagnose and tell the difference between these two conditions. Participants in this study must be 5 to 45 years old and must have symptoms of a serious lung disease but no diagnosis. This study is taking place at multiple locations in the United States and in Canada, including the NIH Clinical Center in Bethesda, Maryland.

Are you a healthy adult or someone with a history of lung infections such as pneumonia or bronchitis? This study aims to compare fluid and tissue samples from the nose and lungs of healthy adults with people who have a lung disease. Researchers hope to learn why some people are more susceptible to certain infections. This study is located at the NIH Clinical Center in Bethesda, Maryland.

Are you an adult with sickle cell disease or would like to help research? Some people who have sickle cell disease are at greater risk for developing abnormal blood clots (venous thromboembolism). This could be a blood clot in the leg (called deep vein thrombosis) or a clot that can break off and travel to the lung (called a pulmonary embolism). This study will look at the blood of people who have sickle cell disease and venous thromboembolism, as well as healthy volunteers, to help researchers develop better treatments to prevent blood clots. Participants in this study must be between 18 and 80 years old and be either a healthy volunteer or have sickle cell disease or trait. This study is located in Bethesda, Maryland.

Are you an adult willing to give blood samples? This study investigates ways to prevent blood clotting in people with sickle cell disease. In this population, blood clotting is the most common cause of vascular death after heart attack and stroke. Scientists are studying the blood of people with sickle cell disease and comparing it with the blood of people without sickle cell disease over 2 years. To participate in this study, you must be between the ages of 18 and 80 years old and willing to participate for up to 2 years. This study takes place in Bethesda, Maryland.

This study is testing whether a new imaging technique can help healthcare providers diagnose venous thromboembolism. To participate in this study, you must be at least 18 years old and diagnosed with venous thromboembolism. This study takes place in Boston, Massachusetts.