Hutchinson-Gilford Progeria Syndrome (Progeria) is a rare autosomal disease that results in premature death at a median age of 13 years due to cardiovascular and cerebralvascular compromise. The ...
The goal of the Preterm Lung Patient Registry is to collect data on individuals with neonatal lung disease to better understand the illness and ultimately improve their care and survival. The Patient ...
Scientist have begun to realize that many types of bacteria often live together as a complex community, and the investigators wish to apply that idea to the bacteria in the respiratory system of ...
The purpose of this study is to determine if the use of sirolimus in the treatment of children and young adults with complicated vascular anomalies will prove to be safe and provide objective response ...
Researchers are working on ways to treat SCID patients who don't have a matched brother or sister. One of the goals is to avoid the problems that happen with stem cell transplant from parents and ...
This study is working towards gaining a better understanding of the genetic and environmental factors involved in autism spectrum disorders (ASD), which includes autism, pervasive developmental ...
This study is a prospective evaluation of children with Severe Combined Immune Deficiency (SCID) who are treated under a variety of protocols used by participating institutions. In order to determine ...
Congenital heart defects (CHD) are the most common major human birth malformation, affecting \~8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only ...
Brain tumors are the leading cause of death from solid tumors in children. Tumor imaging is important in the management of these tumors, but current imaging methods have limitations in providing the ...
The objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC ...