Goal-oriented therapy with miglustat in Gaucher disease

ABSTRACTBackground: Gaucher disease (GD) is a highly heterogeneous disorder with multisystem involvement. Specific therapeutic goals for each manifestation of type 1 GD (GD1) were established in 2004 by an international panel of experts, to facilitate better management of GD1 patients. The goals were defined based on experience with enzyme replacement therapy (ERT) using imiglucerase. Miglustat, a small iminosugar, is the only commercially available substrate reduction therapy (SRT) for patients with GD1. Several clinical studies have demonstrated the beneficial effects of miglustat on cardinal disease manifestations of GD1.Objective: To review the currently available data on miglustat, and provide guidance on the attainment of the GD therapeutic goals with miglustat therapy.Methods: A literature search identified publications on miglustat using MEDLINE, HighWire Press, and Google Scholar databases. Articles were identified using the terms ‘miglustat’ and ‘Gaucher disease type 1’.Findings: Improvements in...