Enzyme therapy for the treatment of type 1 Gaucher disease: clinical outcomes and dose - response relationships.

Background: Enzyme therapy for Gaucher disease has improved the lives of many patients, by reducing the burden of their disease. Several studies have sought to determine to what extent optimal clinical outcomes are a function of the prescribed enzyme dose and its resultant costs. Objective: Issues concerning dose - response relationships during initial and maintenance treatment phases and currently applied treatment goals have been addressed. Methods: All studies that aimed to describe the efficacy of different doses of treatment and approaches for maintenance, such as lowering the dose or changing to less frequent infusions and the effects of drug interruptions, were reviewed. Results/conclusion: Dose - response relationships do exist, but doses between 30 and 60 U/kg per month may be sufficient in a large majority of patients. Goals of treatment should include important clinical end points, such as enhanced quality of life and decreased risk for malignancies and other morbidities. The relationship between these important end points and treatment schedules deserve further study.