Journal of Inherited Metabolic Disease

, Volume 35, Issue 5, pp 837–845

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

  • Caroline Regnery
  • Cornelia Kornblum
  • Frank Hanisch
  • Stefan Vielhaber
  • Nicola Strigl-Pill
  • Birgit Grunert
  • Wolfgang Müller-Felber
  • Franz Xaver Glocker
  • Matthias Spranger
  • Marcus Deschauer
  • Eugen Mengel
  • Benedikt Schoser
Original Article

DOI: 10.1007/s10545-012-9451-8

Cite this article as:
Regnery, C., Kornblum, C., Hanisch, F. et al. J Inherit Metab Dis (2012) 35: 837. doi:10.1007/s10545-012-9451-8

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.

Copyright information

© SSIEM and Springer 2012

Authors and Affiliations

  • Caroline Regnery
    • 1
  • Cornelia Kornblum
    • 2
  • Frank Hanisch
    • 3
  • Stefan Vielhaber
    • 4
  • Nicola Strigl-Pill
    • 1
  • Birgit Grunert
    • 5
  • Wolfgang Müller-Felber
    • 1
    • 6
  • Franz Xaver Glocker
    • 7
  • Matthias Spranger
    • 5
  • Marcus Deschauer
    • 3
  • Eugen Mengel
    • 8
  • Benedikt Schoser
    • 1
  1. 1.Friedrich-Baur Institute, Department of NeurologyLudwig-Maximilians University MunichMunichGermany
  2. 2.Department of NeurologyUniversity Hospital of BonnBonnGermany
  3. 3.Department of NeurologyMartin-Luther-University Halle-WittenbergHalleGermany
  4. 4.Department of NeurologyUniversity Hospital MagdeburgMagdeburgGermany
  5. 5.Neurologisches Rehabilitationszentrum FriedehorstBremenGermany
  6. 6.Department of NeuropaediatricsLudwig-Maximilians University MunichMunichGermany
  7. 7.Department of NeurologyUniversity Hospital FreiburgFreiburgGermany
  8. 8.Department of PaediatricsJohannes-Gutenberg University MainzMainzGermany

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