Clinical Trials

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.

Are you or your child between the ages of 3 and 21 and experiencing pain episodes? This study tests a treatment called arginine therapy for pain episodes in children with sickle cell disease. Researchers are investigating how safe and effective this treatment is, as well as how arginine is metabolized in the body and its effects on cells. To participate in this study, you or your child must have sickle cell disease and pain that requires medical attention. This study takes place in multiple locations in the United States.

Do you or your child have severe asthma that is not easily controlled by inhaled corticosteroids? This study evaluates the use of five different asthma medicines to treat adults and adolescents with severe asthma. To participate in this study, you or your child must be 12 years old or older. This study takes place in multiple locations across the United States.

Do you or your child have primary ciliary dyskinesia (PCD) or primary immune deficiency (PID)? This study aims to identify genes that cause these two conditions, which can have similar symptoms. The results from this study will help researchers find new ways to treat breathing and hearing problems caused by these two conditions in a cross-sectional cohort of patients with PCD and PID. Participants in this study must be 5 to 45 years old. This study is taking place at multiple locations in the United States and in Canada.

Do you or your child have symptoms of a serious lung disease but no diagnosis? This study aims to develop new ways to diagnose primary ciliary dyskinesia (PCD) and 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 ant tell the difference between these two conditions. Participants in this study must be 5 to 45 years old. This study is taking place at multiple locations in the United States and in Canada.

Are you an adult with congenital heart disease? This study uses whole exome sequencing and other genetic tests to identify causes of congenital heart diseases that occur in individuals and families. To participate in this study, you must be an adult with congenital heart disease with or without a family member with congenital heart disease. This study is located in Columbus, Ohio.

Do you or your child have a heart defect that requires a procedure called extracardiac conduit–total cavopulmonary connection (EC-TCPC)? This study is evaluating the effectiveness of a new type of graft called a tissue-engineered vascular graft for EC-TPC. Participants of this study will have this procedure and several follow-up assessments with magnetic resonance imaging (MRI) to test the performance of the graft. This study takes place in Columbus, Ohio.

Is your child having otolaryngologic surgery with anesthesia? Children with Down syndrome often experience dangerously low heart rates when they receive anesthesia for procedures. This study will look at children who have Down syndrome and children who do not to monitor their heart rate during this type of procedure. Participants in this study must be between 1 and 8 years old. This study is located in Cincinnati, Ohio.

Have you or your child been diagnosed with cystic fibrosis, and would you like to support better diagnosis of lung infections? This study is exploring new ways to diagnose bacterial lung infections in people who have cystic fibrosis. The study will test whether analyzing a participant’s breath and sputum samples can help diagnose infections. Participants in this study must be at least 3 years old. This study is taking place in multiple locations in the United States.

Do you have a child with Down syndrome and obstructive sleep apnea who is treated with positive airway pressure (PAP)? This study is testing a new intervention that was informed by the families to help children with Down syndrome and obstructive sleep apnea stick to their PAP treatment. The study will test the effectiveness of a new treatment plan that involves regular telephone and in-person check-ins with a PAP specialist. This study is for 6 -18 year old and is located in Cincinnati, Ohio; and Philadelphia, Pennsylvania.