Optimal therapy in Gaucher disease

imal therapy in Gaucher disease Review (3814) Total Article Views Authors: Ozlem Goker-Alpan Published Date July 2010 Volume 2010:6 Pages 315 - 323 DOI: http://dx.doi.org/10.2147/TCRM.S6955 Ozlem Goker-Alpan Lysosomal Diseases Research and Treatment Unit, Center for Clinical Trials, O&O Alpan LLC, Springfield, VA, USA Abstract: Gaucher disease (GD), the inherited deficiency of the lysosomal enzyme glucocerebrosidase, presents with a wide range of symptoms of varying severity, and primarily affects the skeletal, hematologic and nervous systems. To date, the standard of care has included enzyme replacement therapy with imiglucerase. Although imiglucerase is highly effective in reversing the visceral and hematologic manifestations, skeletal disease is slow to respond, pulmonary involvement is relatively resistant, and the CNS involvement is not impacted. Because of the recent manufacturing and processing problems, the research and development of alternative therapeutics has become more pressing. The divergent phenotypes and the heterogeneity involving different organ systems implicates the involvement of several pathological processes that include enzyme deficiency, substrate accumulation, protein misfolding, and macrophage activation, that differ in each patient with GD. Thus, the therapy should be tailored individually in order to target multiple pathways that interplay in GD.