The overall objective of this drug trial is to determine whether the treatment of acute hyperammonemia with N-carbamyl-L-glutamate (NCG, Carglumic acid) in propionic acidemia (PA), methylmalonic ...
The Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR DMD) study will compare three ways of giving corticosteroids to boys with Duchenne muscular dystrophy (DMD) to determine which of ...
Dyskeratosis congenita is a disease that affects numerous parts of the body, most typically causing failure of the blood system. Lung disease, liver disease and cancer are other frequent causes of ...
The purpose of this study is to analyze the long-term outcomes of surgical treatment of idiopathic scoliosis of all curve patterns treated by either anterior or posterior procedures. In addition, to ...
The purpose of this study is to evaluate the safety of single ascending IV doses of a Factor IX (FIX) Gene Therapy in up to 16 Adults with Hemophilia B.
Investigate the inhibitor development rate of Human cl rhFVIII in previously untreated patients with severe Hemophilia A.
In order to learn more about women's health issues that occur over the lifespan, the Women's Health Study: from Adolescence to Adulthood is building a biorepository and database. The biorepository ...
The purpose of this study is to compare the functional, clinical and radiographic outcomes associated with trans-articular drilling versus retro-articular drilling, two commonly employed techniques of ...
The purpose of this early feasibility study is to determine how a new transcatheter pulmonary valve will move and perform once implanted in the right ventricular outflow tract.
To determine whether EEGs during infancy is a reliable biomarker to identify TSC patients that will develop infantile spasms/epilepsy in the near future and thus are appropriate candidates for an ...