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.

Are you an adult female with LAM? If so, you may be able to participate in this clinical study where researchers are observing patients who are taking or have taken a certain kind of medication, mammalian target of rapamycin (mTOR), to treat lymphangioleiomyomatosis, also known as LAM. You must be at least 18 years old to take part. The study is taking place at locations in California, Colorado, Florida, Georgia, Illinois, Massachusetts, Michigan, Minnesota, Missouri, New York, Ohio, Oregon, Pennsylvania, South Carolina, Tennessee, Texas, Utah, and Washington.

Have you been diagnosed with LAM? This study is trying to understand the genes and proteins that are responsible for causing lung damage in patients with LAM. To participate in this study, you must be between 16 and 99 years old and diagnosed with LAM. This study is located in Bethesda, Maryland.

Are you an adult female who has been diagnosed with LAM? This study is examining which delivery method of albuterol—inhaled or nebulizer—is better at improving lung function in adult women who have LAM. This study is located in Bethesda, Maryland.

Do you have LAM and would be willing to help research? This study aims to identify the right dose of sirolimus to treat people who have LAM. To participate in this study, you must be female, between 18 and 90 years old, and diagnosed with LAM. This study is located in Bethesda, Maryland.

Do you have tuberous sclerosis and want to help researchers better understand the disease? This study is investigating what causes multiple skin tumors to develop in people with tuberous sclerosis. To participate in the study, you must be at least 18 years old. This study is located at the NIH Clinical Center in Bethesda, Maryland.

Are you a healthy adult between 40 and 90 years old and willing to help research? This study will test whether a new device called the OsciPulse system, which is designed to repeatedly compress a person’s legs, can improve blood flow through the legs to prevent or treat varicose veins. To participate in this study, you must be 40 to 90 years old and healthy. This study takes place in Philadelphia, Pennsylvania.