title: Lysosomal storage diseases: natural history and ethical and economic aspects.
abstract: Potential treatment for lysosomal diseases now includes enzyme replacement therapy, substrate reduction therapy, and chaperone therapy. The first two of these have been implemented commercially, and the spectrum of diseases that are now treatable has expanded from Gaucher disease to include several other disorders. Treatment of these diseases is extremely costly. We explore some of the reasons for the high cost and discuss how, by proper selection of patients and appropriate dosing, the economic burden on society of treating these disease may be ameliorated, at least in part. However, the cost of treating rare diseases is a growing problem that society needs to address.
authors.affiliation: The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA. beutler@scripps.edu
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
mesh_terms: D026690:Ethics, Clinical; D005776:Gaucher Disease / Q000188:drug therapy / Q000191:economics; D005962:Glucosylceramidase / Q000191:economics / Q000627:therapeutic use; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000188:drug therapy* / Q000191:economics / Q000266:history; D018579:Patient Selection / Q000941:ethics
chemical_list: C070292:alglucerase; D005962:Glucosylceramidase; C090568:imiglucerase