New directions in the treatment of Gaucher disease

Anthony H. Futerman*, Joel L. Sussman, Mia Horowitz, Israel Silman, Ari Zimran

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Gaucher disease, an inherited metabolic disorder caused by mutations in the gene encoding acid-β-glucosidase (GlcCerase), is a multi-system disease whose manifestations include anemia, thrombocytopenia, hepatosplenomegaly, bone pathology and, in some cases, neurological signs. Enzyme replacement therapy (ERT) using recombinant GlcCerase (Cerezyme®) alleviates many disease symptoms and is used by ~3000 patients worldwide, and substrate-reduction therapy (SRT) using the glycolipid synthesis inhibitor N-butyldeoxynojirimycin [NB-DNJ (Zavesca®)] has been approved recently for patients for whom ERT is unsuitable. It is our opinion that a multiplicity of treatment strategies is required for the management of Gaucher disease. In this article, we discuss the pros and cons of currently available treatments, and suggest complementary therapies arising from the determination of the X-ray structure of Cerezyme® and from delineation of secondary biochemical pathways affected in Gaucher disease.

Original languageEnglish
Pages (from-to)147-151
Number of pages5
JournalTrends in Pharmacological Sciences
Issue number3
StatePublished - Mar 2004


Dive into the research topics of 'New directions in the treatment of Gaucher disease'. Together they form a unique fingerprint.

Cite this