Clinical Trials

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.

Does your child have Down Syndrome? Did they have a complete atrioventricular septal defect (CAVSD) repair within the first year of their life? Researchers in this study are investigating how the
brain develops in children with Down Syndrome who have congenital heart disease. To participate, your child must be between 5 and 12 years old and have Down Syndrome. The study will enroll children who have congenital heart disease as well as children who do not have congenital heart disease. The study is taking place in locations in Delaware, Georgia, Indiana, Massachusetts, Michigan, Missouri, New York, Ohio, Pennsylvania, South Carolina, Texas, Utah, Washington, D.C., and Toronto, Canada

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.

Do you have coronary heart disease or are you healthy and would like to participate in research? This study is comparing how well two types of magnetic resonance imaging (MRI) scanners can detect different types of heart diseases, such as coronary heart disease, heart failure, congenital heart disease, and heart valve disease. The new type of MRI scanner in this study uses less energy than a traditional scanner and may be suitable for people who have metal devices in their bodies. This study is located in Bethesda, Maryland.

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.

The purpose of this study is to see if adding a drug called Regadenoson to the EVLP circulation reservoir during perfusion of marginal donor lungs will help increase the likelihood that the donor lungs will become usable for transplantation.

This project will determine the health impact of parenthood on people with cystic fibrosis (CF). The study team will use retrospective data to provide relatively immediate evidence on parenthood's effect on pulmonary health.

Do you or your child have a lung disease? This study will investigate the genes involved in the breathing process and in the development of lung diseases such as asthma or sarcoidosis to improve understanding of the role they play. To participate in this study, you or your child must be between 2 and 90 years old. This study is located in Bethesda, Maryland, at the NIH Clinical Center.

Do you want to participate in a study with your child who has cystic fibrosis? This study is exploring computer models to compare cell samples from the noses of people who have cystic fibrosis, their parents, and other healthy individuals in hopes of better predicting how patients will respond to medicine. These computer models may allow medicines to be developed more rapidly and better predict who will respond to a certain cystic fibrosis treatment. To participate in this study, you must fall into one of the following groups: (1) have cystic fibrosis and be at least 12 years old, (2) be the biological parent of a cystic fibrosis patient enrolled in the study and be at least 18 years old, or (3) have no history of lung disease and be at least 18 years old. This study is located in Pittsburgh, Pennsylvania.

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.