Enzyme replacement therapy for the mucopolysaccharide storage disorders.
The mucopolysaccharide storage disorders are a group of lysosomal storage disorders associated with deficiencies of lysosomal enzymes required for the normal sequential degradation of glycosaminoglycans, formerly known as mucopolysaccharides. The accumulation of glycosaminoglycans in a wide variety of tissues results in a complex and progressive disease leading to death in the first or second decade in most patients. Studies of enzyme replacement in animal models of mucopolysaccharide disorders have demonstrated the potential of parenterally administered enzyme to reduce glycosaminoglycan storage and microscopic pathology. Clinical studies of enzyme replacement therapy are currently underway for mucopolysaccharidosis I, mucopolysaccharidosis VI and mucopolysaccharidosis II. The complexity and heterogeneity of the mucopolysaccharide disorders provide significant challenges for clinical study design and evaluation. Innovative clinical development strategies may be needed to lower the development cost and time for complex rare disease therapies to assure that such patients receive therapies they deserve.
Kakkis
Emil D
ED
Harbor-UCLA Medical Center, Torrance, CA, USA. ekakkis@biomarinpharm.com
D000818:Animals; D002415:Cats; D017321:Clinical Trials, Phase I as Topic; D017322:Clinical Trials, Phase II as Topic; D004195:Disease Models, Animal; D004285:Dogs; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D009083:Mucopolysaccharidoses / Q000188:drug therapy* / Q000201:enzymology / Q000503:physiopathology; D011994:Recombinant Proteins / Q000627:therapeutic use*; D016896:Treatment Outcome
D011994:Recombinant Proteins; D007068:Iduronidase