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Review
. 2020 Jan;43(1):125-132.
doi: 10.1002/jimd.12131. Epub 2019 Jun 26.

Treating lysosomal storage disorders: What have we learnt?

Robin H Lachmann  1
Affiliations
Review

Treating lysosomal storage disorders: What have we learnt?

Robin H Lachmann. J Inherit Metab Dis. 2020 Jan.

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.

Keywords: Fabry; Gaucher; Pompe; enzyme replacement therapy; lysosomal storage disorders; mucopolysaccharidoses.

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References

REFERENCES

    1. Cox TM, Cachón-González MB. The cellular pathology of lysosomal diseases. J Pathol. 2012;226:241-254. https://doi.org/10.1002/path.3021.
    1. Marques ARA, Saftig P. Lysosomal storage disorders-challenges, concepts and avenues for therapy: beyond rare diseases. J Cell Sci. 2019;132:jcs221739. https://doi.org/10.1242/jcs.221739.
    1. Hollak CEM, Wijburg FA. Treatment of lysosomal storage disorders: successes and challenges. J Inherit Metab Dis. 2014;37:587-598. https://doi.org/10.1007/s10545-014-9718-3.
    1. Lachmann RH. Enzyme replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2011;23:588-593. https://doi.org/10.1097/MOP.0b013e32834c20d9.
    1. Cortina-Borja M, Te Vruchte D, Mengel E, et al. Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials. Orphanet J Rare Dis. 2018;13:143. https://doi.org/10.1186/s13023-018-0880-9.

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