Treating lysosomal storage disorders: What have we learnt?. Issue 1 (26th June 2019)

• Record Type: Journal Article
• Authors: Lachmann, Robin H.
• Is Part Of: Journal of inherited metabolic disease. Volume 43:Issue 1(2020)
• Page Start: 125
• Page End: 132
• Publication Date: 2019-06-26
• Subjects: enzyme replacement therapy -- Fabry -- Gaucher -- lysosomal storage disorders -- mucopolysaccharidoses -- Pompe; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jimd.12131
• Languages: English
• ISSNs: 0141-8955

Abstract

Abstract: The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of treating patients with type 1 Gaucher disease. Because of the remarkable success of this therapy, enormous effort and resource has gone into developing other ERTs, for Gaucher (where three different enzyme preparations have now been approved) and for other LSDs. We now have more than 10 years of clinical experience in using ERT to treat Gaucher, Fabry, Pompe and MPS I, II, and VI. This article aims to assess the real‐life experience of a selection of these innovative and expensive treatments to see if they have met the high expectations which were set for them when they launched.