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Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease

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Abstract

Glycogen storage disease type II is a rare multi-systemic disorder characterised by an intracellular accumulation of glycogen due a mutation in the acid alpha glucosidase (GAA) gene. The level of residual enzyme activity, the genotype and other yet unknown factors account for the broad variation of the clinical phenotype. The classical infantile form is characterised by severe muscle hypotonia and cardiomyopathy leading to early death. The late-onset form presents as a limb girdle myopathy with or without pulmonary dysfunction. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) in infants is life saving. In contrast, therapeutic efficacy of rhGAA in the late-onset form is modest. High expenses of rhGAA, on-going infusions and poor pharmacokinetic efficacy raised a discussion of the cost effectiveness of ERT in late-onset Pompe disease in Switzerland. This discussion was triggered by a Swiss federal court ruling which confirmed the reluctance of a health care insurer not to reimburse treatment costs in a 67-year-old female suffering from Pompe disease. As a consequence of this judgement ERT was stopped by all insurance companies in late-onset Pompe patients in Switzerland regardless of their clinical condition. Subsequent negotiations lead to the release of a national guideline of the management of late-onset Pompe disease. Initiation and limitation of ERT is outlined in a national Pompe registry. Reimbursement criteria are defined and individual efficacy of ERT with rhGAA is continuously monitored.

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Conflicts of interest

TH and KR received travel expenses, speaking honorary and served as medical consultants for Genzyme, Switzerland.

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Authors and Affiliations

  1. Department of Neurology, Cantonal Hospital, Rorschacherstrasse 95, 9007, St. Gallen, Switzerland

    Thomas Hundsberger

  2. Division of Metabolism, University Children’s Hospital and Children’s Research Center, 8032, Zurich, Switzerland

    Marianne Rohrbach

  3. Division of Pulmonary Medicine, Cantonal Hospital Zug, 6340, Baar, Switzerland

    Lukas Kern

  4. Department of Neurology, University of Bern, Inselspital, 3010, Bern, Switzerland

    Kai M. Rösler

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  1. Thomas Hundsberger
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  2. Marianne Rohrbach
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  3. Lukas Kern
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  4. Kai M. Rösler
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Corresponding author

Correspondence to Thomas Hundsberger.

Appendix: Participants of the guideline process

Appendix: Participants of the guideline process

  • Thomas Hundsberger, MD, Neurologist

  • Lukas, Kern, MD, Pneumonologist

  • Marianne Rohrbach, MD, PhD, Paediatrician and metabolic specialist

  • Kai-Michael Rösler, MD, Neurologist

  • Representatives of the Swiss federal office of health

  • Representatives of Genzyme, Switzerland

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Hundsberger, T., Rohrbach, M., Kern, L. et al. Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. J Neurol 260, 2279–2285 (2013). https://doi.org/10.1007/s00415-013-6980-5

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  • DOI: https://doi.org/10.1007/s00415-013-6980-5

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