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.

Do you have high blood pressure, high A1C levels, or have overweight or obesity? Researchers are testing if a program helps increase physical activity for people at risk of cardiovascular disease. Participants will receive remote coaching and wear a physical activity tracker. To join, you must be 40 to 70 years old and can access the internet. The study is taking place in Pittsburgh, Pennsylvania.

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

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.

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 scheduled for a stem cell transplant with cord blood? This study will assess the safety and effectiveness of certain cord blood transplants. The study will help researchers learn the best methods for collecting, storing, and using cord blood in transplants. To participate in this study, you must have a disorder that compromises your body’s ability to make blood cells. This study is located in Bethesda, Maryland.

Is your child black and 8 to 11 years old? This study is testing a way of enhancing sleep in children with the goal of preventing obesity. To participate in this study, your child must be 8 to 11 years old and must be black or African American. This study is located in Philadelphia, Pennsylvania.