A 15-year perspective of the fabry outcome survey

Roberto Giugliani, Dau Ming Niu, Uma Ramaswami, Michael West, Derralynn Hughes, Christoph Kampmann, Guillem Pintos-Morell, Kathleen Nicholls, Jörn Magnus Schenk, Michael Beck

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Abstract

© The Author(s) 2016. The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala). Established in 2001, FOS provides long-term data on agala safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demonstrated correlations between ocular changes and Fabry disease severity. These FOS data represent a rich resource with utility not only for description of natural history/therapeutic effects but also for exploratory hypothesis testing and generation of tools for diagnosis/management, with the potential to improve future patient outcomes.
Original languageEnglish
JournalJournal of Inborn Errors of Metabolism and Screening
Volume4
DOIs
Publication statusPublished - 5 Aug 2016

Keywords

  • Agalsidase alfa
  • Enzyme replacement therapy
  • Fabry disease
  • Fabry Outcome Survey
  • Outcomes

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    Giugliani, R., Niu, D. M., Ramaswami, U., West, M., Hughes, D., Kampmann, C., Pintos-Morell, G., Nicholls, K., Schenk, J. M., & Beck, M. (2016). A 15-year perspective of the fabry outcome survey. Journal of Inborn Errors of Metabolism and Screening, 4. https://doi.org/10.1177/2326409816666298