Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Emerging Treatment Strategies

J.      de Ruijter; M.      J. Valstar; F.      A. Wijburg

doi:10.2174/138920111795542651

Abstract

Mucopolysaccharosis III (MPS III) is a lysosomal storage disorder and belongs to the group of mucopolysaccharidoses. MPS III is caused by a deficiency of one of the four enzymes catalyzing the degradation of the glycosaminoglycan heparan sulfate. MPS III is clinically characterized by progressive dementia with distinct behavioral disturbances and relatively mild somatic disease. This review will summarize and discuss the available and potential future therapeutic options for patients with MPS III. This includes enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), chaperone-mediated therapy, and gene therapy. Although clinical efficacy has not yet been fully demonstrated for any of these therapies, it is likely that future developments will lead to disease- modifying treatment for this devastating disease.

Keywords: Enzyme replacement therapy, gene therapy, hematopoietic stem cell transplantation, mucopolysaccharidosis iii, sanfilippo syndrome, substrate reduction therapy, lysosomal storage disorder, glycosaminoglycan heparan sulfate, behavioral disturbances, hematopoietic stem cell transplantation (HSCT), chaperone-mediated therapy, disease-modifying treatmen, autosomal recessive inherited deficiency