Ultragenyx Pharmaceutical Inc. announced recently that they will begin a Phase 1,2 clinical trial to test UX003, a recombinant human Beta-glucuronidase, to treat mucopolysaccharidosis type VII or Sly syndrome. MPS VII is a rare, autosomal recessive lysosomal storage disease that causes multiple organ dysfunction and for which there is currently no cure.
MPS VII was first characterized by William Sly, M.D., Professor and Emeritus Chairman in the Department of Biochemistry, in 1973 and is one of the rarest of the lysosomal storage diseases. The deficiency of Beta-glucuronidase causes a build-up of mucopolysaccharides in multiple tissues, leading to various symptoms, such as skeletal abnormalities, short stature and joint deformities, enlarged liver and spleen, and heart valve abnormalities.
Ultragenyx is a private biotechnology company working to provide treatments for rare genetic diseases. It was founded in 2010 by Emil Kakkis, M.D., Ph.D., who is known for his work in developing treatments for ultrarare disorders.