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.

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

The proposed research study will provide preliminary evidence of the potential to utilize [F-18]FGln as a non-invasive imaging biomarker of glutamine flux and metabolism across a range of PAH subjects.

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

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.

The investigators' central hypothesis is that early combination therapy with two PAH-specific oral therapies that have been shown to be well tolerated in the pediatric population, sildenafil and bosentan, will result in better World Health Organization (WHO) functional class at 12 months after initiation of PAH treatment than therapy with sildenafil alone.

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.

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.

Do you or your child have pulmonary hypertension and want to help research? This study is looking to better understand pulmonary hypertension in children who have this condition. To participate in this study, you or your child must be 21 years old or younger and must have been diagnosed with pulmonary hypertension before the age of 18. This study is located at multiple sites across the United States and Canada, including California, Colorado, Massachusetts, New York, Pennsylvania, Tennessee, and Alberta, Canada.

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.