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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2012

Open Access 01-12-2012 | Research

Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

Authors: Juna M de Vries, Nadine AME van der Beek, Wim CJ Hop, Francois PJ Karstens, John H Wokke, Marianne de Visser, Baziel GM van Engelen, Jan BM Kuks, Anneke J van der Kooi, Nicolette C Notermans, Catharina G Faber, Jan JGM Verschuuren, Michelle E Kruijshaar, Arnold JJ Reuser, Pieter A van Doorn, Ans T van der Ploeg

Published in: Orphanet Journal of Rare Diseases | Issue 1/2012

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Abstract

Background

Enzyme replacement therapy (ERT) in adults with Pompe disease, a progressive neuromuscular disorder, is of promising but variable efficacy. We investigated whether it alters the course of disease, and also identified potential prognostic factors.

Methods

Patients in this open-label single-center study were treated biweekly with 20 mg/kg alglucosidase alfa. Muscle strength, muscle function, and pulmonary function were assessed every 3–6 months and analyzed using repeated-measures ANOVA.

Results

Sixty-nine patients (median age 52.1 years) were followed for a median of 23 months. Muscle strength increased after start of ERT (manual muscle testing 1.4 percentage points per year (pp/y); hand-held dynamometry 4.0 pp/y; both p < 0.001). Forced vital capacity (FVC) remained stable when measured in upright, but declined in supine position (−1.1 pp/y; p = 0.03). Muscle function did not improve in all patients (quick motor function test 0.7 pp/y; p = 0.14), but increased significantly in wheelchair-independent patients and those with mild and moderate muscle weakness.
Relative to the pre-treatment period (49 patients with 14 months pre-ERT and 22 months ERT median follow-up), ERT affected muscle strength positively (manual muscle testing +3.3 pp/y, p < 0.001 and hand-held dynamometry +7.9 pp/y, p < 0.001). Its effect on upright FVC was +1.8 pp/y (p = 0.08) and on supine FVC +0.8 (p = 0.38). Favorable prognostic factors were female gender for muscle strength, and younger age and better clinical status for supine FVC.

Conclusions

We conclude that ERT positively alters the natural course of Pompe disease in adult patients; muscle strength increased and upright FVC stabilized. Functional outcome is probably best when ERT intervention is timely.
Appendix
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Metadata
Title
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
Authors
Juna M de Vries
Nadine AME van der Beek
Wim CJ Hop
Francois PJ Karstens
John H Wokke
Marianne de Visser
Baziel GM van Engelen
Jan BM Kuks
Anneke J van der Kooi
Nicolette C Notermans
Catharina G Faber
Jan JGM Verschuuren
Michelle E Kruijshaar
Arnold JJ Reuser
Pieter A van Doorn
Ans T van der Ploeg
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2012
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-7-73

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