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.

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.

Do you have a child 2 years or younger who has had surgery to treat myelomeningocele (MMC)? Sleep – disordered breathing (SBD) is common in infants and young children who have brain and spinal cord issues, including MMC, a serious type of spina bifida. This study is testing whether treating MMC by surgery before or after birth can help lower the risk of SBD. The study will also examine the link between SBD and brain development. This study takes place in multiple locations in the United States.

This is an observational - data and specimen collection study. There have been increasing reports of vaping-induced lung injury, including severe lung injury and rare cases of death. The mechanism by which vaping contributes to lung injury in susceptible persons is unknown, as is impact on chronic lung disease. The investigators aim to identify individuals with chronic electronic nicotine delivery device (ENDD) exposure and matched controls within our ongoing cohort of HIV+ and HIV-uninfected individuals, collect PFT data, bank respiratory and stool samples and collect clinical data for studies of clinical risk, inflammation, biomarkers, and the microbiome in the identification and modification of risk of progression to lung injury or chronic pulmonary disease.

The purpose of this study is to non-invasively characterize the fibrotic consequences of single ventricle physiology, its possible solution and effect on lymphatics. This project investigates the response to acute imposition of Fontan hemodynamics by examining the interrelationship between liver and cardiac fibrosis/dysfunction and lymphatic congestion along with a pilot trial of the antifibrotic agent, spironolactone, to prevent these consequences and to determine if MRI can discern these differences. The combination of serum biomarkers and MRI form a powerful non-invasive tool in putting together this complicated web of dysfunction.

Do you or your child have Friedrich's Ataxia? This study is looking into a supplement in the form of vitamin B3 plus exercise can help the body better use oxygen for people with Friedrich’s Ataxia. You must be 10 to 40 years old to join. Participants may be asked to take the daily supplement, exercise, or do both during the study. The study is taking place in Philadelphia, Pennsylvania.

22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people. This study will analyze DNA from people with 22q11.2 deletion syndrome to identify genetic variations that may affect the severity of the disorder.

Investigators will conduct in-human PET imaging of 18F-fluoroglutamine (18F-FGln) in patients with PAH to compare glutamine uptake to that of controls.