Clinical Trials

Do you or your child have cardiovascular disease or want to help research? This study aims to identify better MRI methods and new ways of imaging cardiovascular disease to understand cardiovascular and brain function. Researchers are also interested in seeing whether gadolinium, the commonly used MRI contrast agent, stays in the body long after an MRI is performed. To participate in this study, you or your child should be healthy or have a cardiovascular condition and be at least 7 years old.

Do you or your child have dyslipidemia? This study is exploring how different diagnostic tests can help us understand how lipid disorders, including high blood cholesterol and high blood triglycerides, affect the body. Information from this study may help improve the way lipid disorders are diagnosed or treated in the future. Participants in this study must be at least 2 years old. The study is being conducted in Bethesda, Maryland.

Do you or a first-degree relative have a condition that raises the risk of heart disease? This study aims to test the heart and lung function of people who have a genetic or metabolic disease that raises their risk of heart disease. Participants in this study must be between 2 and 100 years old. This study is located in Bethesda, Maryland.

Do you or your child need another blood stem cell transplant for sickle cell disease? This study will give a second transplant to people who have sickle cell disease and whose disease has returned but still have some donor cells in their body. Participants in this study must be at least 4 years old and had a transplant but the disease returned, and their donor relatives. This study is located in Bethesda, Maryland.

Do you or your child have bone marrow failure disease or a telomere biology disorder? This study looks at the long-term effects of bone marrow failure disease and its treatments on organ function. Participants in this study must be 2 years or older with bone marrow failure or telomere biology disorder. This study is located at the NIH Clinical Center in Bethesda, Maryland.

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.