Anderson LJ et al. Long-term effectiveness of enzyme replacement therapy in children with Gaucher disease: results from the NCS-LSD cohort study. J Inherit Metab Dis. 2014 Mar 18. [Epub ahead of print]

In a longitudinal prospective and retrospective cohort study, Anderson et al investigated the effectiveness of enzyme replacement therapy in children with Gaucher disease. Although the study included 86% of children with Gaucher disease types 1 and 3 in the U.K., the absolute numbers of patients followed were small (25 children, of whom 14 had Gaucher disease type I and the remainder had Gaucher disease type 3). Despite the small sample size, the authors did observe a significant effect on haemoglobin, platelet count, and bone pain, providing further confirmation of the long-term effectiveness of enzyme replacement therapy in paediatric patients with Gaucher disease types 1 and 3.

Posted by Alina Levtova, MD.