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.

Are you an adult with congenital heart disease? This study uses whole exome sequencing and other genetic tests to identify causes of congenital heart diseases that occur in individuals and families. To participate in this study, you must be an adult with congenital heart disease with or without a family member with congenital heart disease. This study is located in Columbus, Ohio.

Is your child undergoing heart surgery for congenital heart disease? This study aims to help researchers better understand the developing heart and what controls the strength of its beats by comparing it to adult hearts. Researchers will study small pieces of the heart that are removed as a normal part of surgery or repair for children with congenital heart disease. To participate in this study, your child must be undergoing cardiopulmonary bypass surgery and be 18 years old or younger. The study is located in Atlanta, Georgia.

Do you or your child have a heart defect that requires a procedure called extracardiac conduit–total cavopulmonary connection (EC-TCPC)? This study is evaluating the effectiveness of a new type of graft called a tissue-engineered vascular graft for EC-TPC. Participants of this study will have this procedure and several follow-up assessments with magnetic resonance imaging (MRI) to test the performance of the graft. This study takes place in Columbus, Ohio.

Sickle Cell Disease (SCD) impairs oxygen transport to tissue and causes endothelial injury. Thus, therapeutic interventions aim to improve both, but there is an unmet need for biomarkers to determine when intervention is necessary and evaluate the effectiveness of the chosen intervention in individual patients. This study proposes to monitor SCD and its treatment through their impact on cerebral hemodynamics, as the brain is one of the most vulnerable and consequential targets of the disease. Specifically, this study will optimize quantitative magnetic resonance imaging (MRI) and advanced optical spectroscopy techniques such as frequency-domain near-infrared and diffuse correlation spectroscopies (FDNIRS-DCS) to monitor 1) cerebral oxygen transport with measures of cerebral blood flow (CBF), cerebral oxygen extraction fraction (OEF) and cerebral metabolic rate of oxygen consumption (CMRO2) and 2) endothelial function with cerebrovascular reactivity (CVR).

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.

Are you or your child at least 13 years old and have sickle cell disease? In this stidy, researchers are trying to find out if a new medication improves the success of a blood stem cell transplant. People 13 years old or older who are eligible for a blood stem cell transplant to treat sickle cell disease may be able to participate. Healthy family members over age 13 who are matched to transplant recipients are also needed to donate blood for the study. This study is taking place at the National Institutes of Health Clinical Center in Bethesda, Maryland.

The purpose of this study is to learn more about how the use of two different types of telemedicine (distance medical care) can address barriers to receiving comprehensive sickle cell care, and whether care can be improved.