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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 6/2014

01-11-2014 | Original Article

Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study

Authors: L. J. Anderson, K. M. Wyatt, W. Henley, V. Nikolaou, S. Waldek, D. A. Hughes, G. M. Pastores, S. Logan

Published in: Journal of Inherited Metabolic Disease | Issue 6/2014

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Abstract

Objectives

To determine the effectiveness of enzyme replacement therapy (ERT) for adults and children with Fabry disease.

Design

Cohort study including prospective and retrospective clinical data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment and untreated patients contributed natural history data.

Participants

Consenting adults (N = 289) and children (N = 22) with a confirmed diagnosis of Fabry disease attending a specialist Lysosomal Storage Disorder treatment centre in England. At recruitment 211 adults and seven children were on ERT (range of treatment duration, 0 to 9.7 and 0 to 4.2 years respectively).

Outcome measures

Clinical outcomes chosen to reflect disease progression included left ventricular mass index (LVMI); proteinuria; estimated glomerular filtration rate (eGFR); pain; hearing and transient ischaemic attacks (TIA)/stroke.

Results

We found evidence of a statistically significant association between time on ERT and a small linear decrease in LVMI (p = 0.01); a reduction in the risk of proteinuria after adjusting for angiotensin-converting enzyme inhibitors and angiotensin receptor blockers (p < 0.001) and a small increase in eGFR in men and women without pre-treatment proteinuria (p = 0.01 and p < 0.001 respectively). The same analyses in children provided no statistically significant results. No associations between time on ERT and pain, risk of needing a hearing aid, or risk of stroke or TIAs, were found.

Conclusions

These data provide some further evidence on the long-term effectiveness of ERT in adults with Fabry disease, but evidence of effectiveness could not be demonstrated in children.
Appendix
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Metadata
Title
Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study
Authors
L. J. Anderson
K. M. Wyatt
W. Henley
V. Nikolaou
S. Waldek
D. A. Hughes
G. M. Pastores
S. Logan
Publication date
01-11-2014
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 6/2014
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-014-9717-4

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