Imiglucerase and its use for the treatment of Gaucher's disease

Background: Gaucher's disease is caused by deficient lysosomal glucocerebrosidase activity. Intravenous enzyme replacement therapy with imiglucerase (Cerezyme®, Genzyme Corporation, Cambridge, MA), a recombinant human glucocerebrosidase, ameliorates systemic manifestations such as hepatosplenomegaly, anemia, thrombocytopenia and skeletal abnormalities in patients with type 1 (non-neuronopathic) and type 3 (chronic neuronopathic) Gaucher's disease. Objective/methods: The aim of this study was to identify and comment on the current issues related to imiglucerase for Gaucher's disease based on a review of published English language literature and personal clinical experience. Results: The following topics were covered with respect to imiglucerase: development, pharmacokinetics, preparation and administration, efficacy, pediatrics, pregnancy, type 3 Gaucher's disease, dosing, treatment interruptions, safety and alternative pharmacological therapies. Conclusion: Imiglucerase is safe and well tolerated. In addition, it corrects the hepatic, splenic, hematologic and bone abnormalities observed with types 1 and 3 Gaucher's disease effectively and enhances health-related quality of life.