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36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Objectives

Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional disability and reduced life span.

Methods

We present an open-label, investigator-initiated observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult-onset GSD2 patients (20 female, 18 male) with a mean age at disease onset of 36.2 ± 10.5 years. Mean delay between symptom onset and start of ERT was 14.5 ± 7.2 years. Assessments included serial Walton Gardner Medwin scale, arm function tests, timed 10-meter walk tests, 4-stair climb tests, modified Gowers’ maneuvers, 6-minute walk test (6MWT), MRC sum score, forced vital capacities (FVC), creatine kinase (CK) levels, and SF-36 self-reporting questionnaires. All tests were performed at baseline and every 12 months for 36 months of ERT.

Results

In the 6MWT we found 21 patients able to walk at baseline a mean distance of 312 ± 165.5 m, improving to 344 ± 165.8 m after 12 months (p = 0.006), remaining at 356.4 ± 155.9 m at 24 months (p = 0.033), and declining to 325.6 ± 174.8 m after 36 months of ERT (p = 0.49, n.s.). The mean FVC in 28 patients was 80.27 ± 14.08% of predicted normal at baseline, after 12 months 79.19 ± 13.09%, at 24 months 78.62 ± 16.55%, and 77.19 ± 18.05% after 36 months. Only mean CK levels were significantly decreased by 8.8% (p = 0.041). All other tests were statistically non-significant changed.

Conclusion

Our data denote a rather variable course of neuromuscular deficits in chronic adult-onset Pompe patients during 36 months of alglucosidase alfa ERT.

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Acknowledgment

We thank the patients and their families for their patience and long-term cooperation. We also thank the technical team at the involved treatment centers. Research conducted in MC Johannes-Gutenberg-University, Mainz, Germany was supported by the European Union, 7th Framework Programme ‘EUCLYD- A European Consortium for Lysosomal Storage Diseases’ [health F2/2008 grant agreement 201678 to EM].

Competing interest

M. Deschauer, C. Kornblum, E. Mengel, W. Müller-Felber, M. Spranger, B. Schoser, S. Vielhaber have received lecturer honoraria from Genzyme Corporation.

Author information

Authors and Affiliations

  1. Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilians University Munich, Munich, Germany

    Caroline Regnery, Nicola Strigl-Pill, Wolfgang Müller-Felber & Benedikt Schoser

  2. Department of Neurology, University Hospital of Bonn, Bonn, Germany

    Cornelia Kornblum

  3. Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle, Germany

    Frank Hanisch & Marcus Deschauer

  4. Department of Neurology, University Hospital Magdeburg, Magdeburg, Germany

    Stefan Vielhaber

  5. Neurologisches Rehabilitationszentrum Friedehorst, Bremen, Germany

    Birgit Grunert & Matthias Spranger

  6. Department of Neuropaediatrics, Ludwig-Maximilians University Munich, Munich, Germany

    Wolfgang Müller-Felber

  7. Department of Neurology, University Hospital Freiburg, Freiburg, Germany

    Franz Xaver Glocker

  8. Department of Paediatrics, Johannes-Gutenberg University Mainz, Mainz, Germany

    Eugen Mengel

Authors
  1. Caroline Regnery
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  2. Cornelia Kornblum
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  3. Frank Hanisch
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  4. Stefan Vielhaber
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  5. Nicola Strigl-Pill
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  6. Birgit Grunert
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  7. Wolfgang Müller-Felber
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  8. Franz Xaver Glocker
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  9. Matthias Spranger
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  10. Marcus Deschauer
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  11. Eugen Mengel
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  12. Benedikt Schoser
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Corresponding author

Correspondence to Benedikt Schoser.

Additional information

Communicated by: Ed Wraith

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Regnery, C., Kornblum, C., Hanisch, F. et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis 35, 837–845 (2012). https://doi.org/10.1007/s10545-012-9451-8

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  • DOI: https://doi.org/10.1007/s10545-012-9451-8

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