Clinical Trials

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.

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 your child have severe aplastic anemia? This study tests the safety and effectiveness of two medicines called cyclosporine and eltrombopag in people with severe aplastic anemia. The typical treatment is a combination of three medicines: cyclosporine, eltrombopag, and horse anti-thymocyte globulin. Researchers want to see if starting people at a lower dose of cyclosporine and eltrombopag before giving them horse anti-thymocyte globulin is helpful. Participants in this study must be 4 years or older with severe aplastic anemia. This study is located at the NIH Clinical Center in Bethesda, Maryland.

Do you have severe aplastic anemia, myelodysplastic syndrome, or paroxysmal nocturnal hemoglobinuria and a relative who is willing to donate blood plasma? This study is exploring whether these conditions can be treated using peripheral blood hematopoietic stem cells, which are easier to collect than bone marrow cells. To participate, you must be between 4 and 55 years old with severe aplastic anemia, myelodysplastic syndrome or paroxysmal nocturnal hemoglobinuria and have a relative who is between 4 and 75 years old who can donate peripheral blood stem cells. This study is located at the NIH Clinical Center in Bethesda, Maryland.

Do you or your child have Fanconi anemia with lower blood cell counts? This study aims to see if a new drug called eltrombopag will help people with this condition. Participants must be at least 2 years old. The study is located at the NIH Clinical Center in Bethesda, Maryland.

Do you or your child have severe aplastic anemia or myelodysplastic syndrome? This study aims to find new ways to make stem cell transplants safer and more effective. Researchers are testing if treating people with severe aplastic anemia with a co-infusion of blood stem cells from a family member and umbilical cord blood stem cells from an unrelated donor is safe and effective. To participate in this study, you must be between 4 and 75 years old. This study is located at the NIH Clinical Center in Bethesda, Maryland.

Do you or your child have Williams Syndrome (WS) or supravalvular aortic stenosis (SVAS) or are you interested in helping research on these conditions? The blood vessels in people with WS or SVAS have less elasticity, which can cause them to narrow. This study aims to see how blood vessel differences in people with these conditions affect organs in the body including the heart, gut, kidneys, and brain. This study is open to people with one of these conditions or healthy volunteers between 3 and 85 years old. The study takes place at the NIH Clinical Center in Bethesda,

Do you or your child have Williams-Beuren syndrome (WS) or Supravalvular Aortic Stenosis (SVAS)? Symptoms of both conditions include vascular problems that can be mild or serious. Researchers want to find out why only some people with WS and SVAS have serious symptoms while others do not. Participants in this study will provide blood or saliva samples to help researchers see what DNA or environmental changes affect the severity of the disease. This study is located at the NIH Clinical Center in Bethesda, Maryland.

Would you like to help researchers understand how rare genetic problems may lead to cardiovascular and vascular diseases? This study will collect blood, saliva, and tissue samples to study the underlying causes of diseases. This study is located at the NIH Clinical Center in Bethesda, Maryland.

Do you have bronchiectasis and get frequent lung infections? This study is exploring what causes frequent lung infections in people with bronchiectasis. Researchers will look at whether changes to a person's genes or immune system can raise the risk of these frequent infections. Participants in this study must be at least 5 years old and either healthy, diagnosed with bronchiectasis, or have a history of frequent lung infections. This study is located at the NIH Clinical Center in Bethesda, Maryland.