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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 2/2016

Open Access 01-03-2016 | Original Article

Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

Authors: Deniz Güngör, Michelle E. Kruijshaar, Iris Plug, Dimitris Rizopoulos, Tim A. Kanters, Stephan C. A. Wens, Arnold J. J. Reuser, Pieter A. van Doorn, Ans T. van der Ploeg

Published in: Journal of Inherited Metabolic Disease | Issue 2/2016

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Summary

Background

Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality of life and participation in daily life in adult patients with the disease.

Methods

In an international survey, we assessed quality of life (Short Form 36, SF-36) and participation (Rotterdam Handicap Scale, RHS) annually between 2002 and 2012. Repeated measurements mixed effects models were used to describe the data over time.

Results

Responses were available for 174 adult patients. In the periods before and after start of ERT, the median follow-up times were 4 years each (range 0.5-8). The SF-36 Physical Component Summary measure (PCS) deteriorated before ERT (-0.73 score points per year (sp/y); CI 95 % -1.07 to -0.39), while it improved in the first 2 years of ERT (1.49 sp/y; CI 0.76 to 2.21), and remained stable thereafter. The Mental Component Summary measure (MCS) remained stable before and during ERT. After declining beforehand (-0.49 sp/year; CI -0.64 to-0.34), the RHS stabilized under ERT.

Conclusion

In adult patients with Pompe disease, ERT positively affects quality of life and participation in daily life. Our results reinforce previous findings regarding the effect of ERT on muscle strength, pulmonary function and survival.
Glossary
ERT
Enzyme replacement therapy
MCS
Mental Component Summary measure
PCS
Physical Component Summary measure
QOL
Quality of Life
RHS
Rotterdam Handicap Scale
SF-36
Medical Outcome Study 36-item Short Form Health Survey
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Metadata
Title
Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up
Authors
Deniz Güngör
Michelle E. Kruijshaar
Iris Plug
Dimitris Rizopoulos
Tim A. Kanters
Stephan C. A. Wens
Arnold J. J. Reuser
Pieter A. van Doorn
Ans T. van der Ploeg
Publication date
01-03-2016
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 2/2016
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-015-9889-6

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