Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome)

Abstract

Mucopolysaccharidosis III (Sanfilippo syndrome, MPS III) is caused by lysosomal enzyme deficiency, which is a rare autosomal recessive hereditary disease. For now, there is no approved treatment for MPS III despite lots of efforts providing new vision of its molecular basis, as well as governments providing regulatory and economic incentives to stimulate the development of specific therapies. Those efforts and incentives attract academic institutions and industry to provide potential therapies for MPS III, including enzyme replacement therapies, substrate reduction therapies, gene and cell therapies, and so on, which were discussed in this paper.

Keywords: Enzyme replacement therapy; Gene therapy; Hematopoietic stem cell transplantation; Mucopolysaccharidosis III; Sanfilippo syndrome; Substrate reduction therapy.