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.

Does your developing baby have a heart defect? Have you had a stillborn baby? This study tests a new technology to measure fetal heart activity and find possible problems early. These problems include fetal arrhythmia and conduction disorders such as Brugada syndrome. To participate in this study, you must be at least 18 years old and pregnant, and have one of five high-risk complications of pregnancy: a fetus with a major congenital heart defect, hydrops, or gastroschisis; a previous unexplained stillbirth; or twins who share a placenta. This study is located in Madison and Milwaukee, Wisconsin.

Do you have a high-risk pregnancy? This study will investigate the use of a non-invasive scan called fetal magnetocardiography to detect potential problems in the fetus in five high-risk pregnancy conditions associated with stillbirth. The scan is normally used to look at fetal heart rhythms. To participate in this study, you must be at least 18 years old and pregnant with one of the following: having a stillbirth in a previous pregnancy, carrying identical twins, or having a fetus that has been diagnosed with major congenital heart disease, fetal hydrops, or fetal gastroschisis. This study takes place in Madison and Milwaukee, Wisconsin.

The main goal of this study is to determine whether the treatment will lead to a complete absence of severe vaso-occlusive events (VOEs) in patients with severe SCD.

This is a pilot study to evaluate the feasibility and safety of providing RH genotype matched D+ Red Blood Cells (RBCs) to chronically transfused patients with sickle cell disease (SCD) who type D+ but have formed anti-D and are currently transfused with D- RBC (Red Blood Cell) units.

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.

Are you an adult with sickle cell disease? This study aims to determine whether monthly exchange blood transfusions (removing blood and replacing it with transfused red blood cells) can improve health and prevent or reduce the number of pain crises. To participate in this study, you must be at least 18 years old, have sickle cell disease, and have not been on a chronic exchange transfusion program for at least 2 months. This study is located in Pittsburgh, Pennsylvania.

Are you an adult who receives long-term red blood cell transfusion therapy for sickle cell disease? This 3-month study tests whether donated blood that is more than 30 days old leads to more infections in people with sickle cell disease than blood that is less than 10 days old. Some hospitals around the United States have requirements regarding the age of donor blood. This research aims to inform new evidence-based policies on the age and use of donor blood in people with sickle cell disease that rely on blood transfusions. To participate in this study, you must be between 16 and 45 years old, have sickle cell disease, and be receiving long-term red blood cell transfusion therapy. This study takes place in Atlanta, Georgia; Chapel Hill, North Carolina; and Milwaukee, Wisconsin.