Treatment options for patients with Gaucher disease

Abstract

Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since the introduction of Ceredase in 1991, enzyme  replacement therapy has been the mainstay of treatment with its major  disadvantage of long life dependency on biweekly IV therapy. It was more than a decade later when the substrate reduction therapy – an oral treatment – was approved for Gaucher disease. Future therapeutic modalities will include pharmacological chaperon and possibly gene therapy. The aim of this review is to high light the current and future treatment options for patients with Gaucher disease and to compare their effects and side effects. 

Keywords: Gaucher disease; Treatment; Enzyme; Substrate reduction; Chaperon; Bone marrow transplantation; Genetic counseling; Gene therapy