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Treating lysosomal storage disorders: What have we learnt?
Author(s) -
Lachmann Robin H.
Publication year - 2020
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1002/jimd.12131
Subject(s) - enzyme replacement therapy , fabry disease , lysosomal storage disorders , medicine , substrate reduction therapy , lysosomal storage disease , glucocerebrosidase , disease , intensive care medicine
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.