Current issues in enzyme therapy for Gaucher disease

Enzyme therapy has altered forever the management of patients with Gaucher disease. Studies in over 1200 treated Gaucher disease patients have demonstrated regression of hepatic, splenic, bony and haematological abnormalities, with a return towards health in many affected patients. The therapy is well tolerated, with approximately 7% of patients having adverse effects. However, the lack of standardised clinical staging and tracking procedures, and a poor understanding of the basic biochemistry and cell biology of the administered enzyme, continue to inhibit optimisation of treatment. Ultimately, preventive intervention with enzyme therapy will require absolute safety and much less expensive preparations, and accurate predictive genotype testing to fully optimise this mode of therapy. The success and pitfalls encountered in enzyme therapy for Gaucher disease provide a map for the development of such therapies for other inborn errors of metabolism.