Clinical Trials

Do you or one of your children have a congenital heart defect? This study will find both common genetic causes of congenital heart disease and ways that genes influence results of medical treatment. To participate in this study, you or your child must have congenital heart disease. This study is located in Los Angeles, Palo Alto, and San Francisco, California; New Haven, Connecticut; Boston, Massachusetts; New York and Rochester, New York; Philadelphia, Pennsylvania; and Salt Lake City, Utah.

Are you 15 to 40 years old and have severe sickle cell disease? This study is comparing long-term outcomes for patients who receive blood and bone marrow transplants and those who receive standard treatment with medicines. Participants also have an option of contributing blood samples to be stored for future research. Participants must be 15 to 40 years old and have severe sickle cell disease. This study is located in Madison, Wisconsin.

Do you or your child have pulmonary hypertension and want to help research? This study is looking to better understand pulmonary hypertension in children who have this condition. To participate in this study, you or your child must be 21 years old or younger and must have been diagnosed with pulmonary hypertension before the age of 18. This study is located at multiple sites across the United States and Canada, including California, Colorado, Massachusetts, New York, Pennsylvania, Tennessee, and Alberta, Canada.

Is your newborn in the neonatal intensive care unit at St. Louis Children’s Hospital? This study aims to better understand breathing problems and blood flow through the heart in premature newborns to better detect conditions such as pulmonary hypertension. To participate in this study, your newborn must have been born prematurely between 24 and 29 weeks’ gestation and be a patient in the Neonatal Intensive Care Unit at St. Louis Children’s Hospital. This study is located in St. Louis, Missouri.

Do you or a family member have Diamond-Blackfan anemia? This registry seeks to collect information from patients who have Diamond-Blackfan anemia (DBA), in order to help researchers and doctors learn more about the condition. The registry will also help connect patients with DBA to research and clinical studies, and possible treatment options. The registry accepts all patients diagnosed with DBA.

Are you scheduled for a stem cell transplant with cord blood? This study will assess the safety and effectiveness of certain cord blood transplants. The study will help researchers learn the best methods for collecting, storing, and using cord blood in transplants. To participate in this study, you must have a disorder that compromises your body’s ability to make blood cells. This study is located in Bethesda, Maryland.

Is your child undergoing heart surgery for congenital heart disease? This study aims to help researchers better understand the developing heart and what controls the strength of its beats by comparing it to adult hearts. Researchers will study small pieces of the heart that are removed as a normal part of surgery or repair for children with congenital heart disease. To participate in this study, your child must be undergoing cardiopulmonary bypass surgery and be 18 years old or younger. The study is located in Atlanta, Georgia.

Do you or your child have a platelet, bleeding, or white blood cell disorder? This study is looking at people who have platelet or other blood disorders. The researchers will use a blood sample to look for problems with platelets and a possible genetic cause in the participant’s DNA or RNA. To participate in this study, you must be a child or adult who either is healthy or has a platelet disorder, coagulation disorder, or white blood cell disorder. This study is located in New York, New York.

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.

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,