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Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease

  • Glycogenoses
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Pompe disease is a rare, progressive lysosomal storage disorder for which enzyme therapy (ERT) became available in 2006. Four years earlier, the IPA/Erasmus MC survey, an international longitudinal prospective survey, was established to collect information on the natural course of the disease and its burden on patients. The survey is a collaboration between Erasmus MC University Medical Center and the International Pompe Association (IPA) and comprises an annual questionnaire that was specifically designed to assess the symptoms and problems of the disease. Here we review our results of over 10 years of follow-up, and discuss the survey’s contribution to the field. Tracking 408 Pompe patients between 2002 and 2013, the cumulative data reveals the broad range of clinical manifestations that interfere with patients’ lives. The survey allowed us to quantify the rate of disease progression and the positive effects of ERT on patients’ quality of life, fatigue, and participation in daily life. Furthermore, it showed for the first time that survival is reduced in adult Pompe disease and improved by ERT. Our results show that a patient survey can serve as a valuable and reliable tool for obtaining quantifiable information on the natural course of a rare disease and on the effects of therapy in a large cohort over a very long time. Most importantly, by working with patient reported outcomes, the survey provides the data that is truly relevant to the patient and complementary to clinical datasets.

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Abbreviations

ERT:

Enzyme replacement therapy

FSS:

Fatigue severity scale

GAA:

Acid alpha-glucosidase

IPA:

International Pompe association

rh-GAA:

Recombinant human acid alpha-glucosidase

RHS:

Rotterdam handicap scale

SF-36:

Short-form 36 health survey

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Acknowledgements

The IPA/Erasmus MC Pompe survey was a joint initiative of the International Pompe Association (IPA) and Erasmus MC University Medical Center. We thank all patients for participating in the survey, and Marylyn House, Thomas Schaller, Guy Ashford-Smith, Raymond Saich, Marsha Zimmerman, and Rineke Nelisse for their contribution to the organizational part of the study. We thank David Alexander for his critical reading of the manuscript and Arnold Reuser for his continuous support concerning all his activities regarding Pompe disease and particular his contribution to the study.

Compliance with Ethics Guidelines

ᅟ

Competing interests

Research on Pompe disease at Erasmus MC is financially supported by ZonMw- the Netherlands Organization for Health Research and Development [project no. 152001005]; the Dutch TI Pharma initiative “Sustainable Orphan Drug Development through Registries and Monitoring (T6-208); “EUCLYD-a European Consortium for Lysosomal Storage Diseases” (health F2/2008 grant agreement 201678); and the Prinses Beatrix Fonds [project no. OP07-08]; MEUSIX [FP7/2007-2013, grant agreement n 304999]; SSWO; Colciencias and Genzyme Corp. AvdP has provided consultancy services for various industries. The other authors declare that they have no conflict of interest.

Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent for inclusion in the study was obtained from all patients or their parents.

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Authors and Affiliations

  1. Center for Lysosomal and Metabolic diseases, Erasmus MC University Medical Center, Dr. Molewaterplein 60, Room Sb-1629, 3000, CB, Rotterdam, The Netherlands

    J. C. van der Meijden, D. Güngör, M. E. Kruijshaar & A. T. van der Ploeg

  2. International Pompe Association, Association for Glycogen Storage Disease, Droxford, UK

    A. D. J. Muir

  3. International Pompe Association, Vereniging Spierziekten Nederland, Baarn, The Netherlands

    H. A. Broekgaarden

Authors
  1. J. C. van der Meijden
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  2. D. Güngör
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  3. M. E. Kruijshaar
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  4. A. D. J. Muir
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  5. H. A. Broekgaarden
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  6. A. T. van der Ploeg
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Correspondence to A. T. van der Ploeg.

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Communicated by: Olaf Bodamer

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van der Meijden, J.C., Güngör, D., Kruijshaar, M.E. et al. Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease. J Inherit Metab Dis 38, 495–503 (2015). https://doi.org/10.1007/s10545-014-9751-2

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