A 15-Year Perspective of the Fabry Outcome Survey
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 (agalα). Established in 2001, FOS provides long-term data on agalα safety/efficacy and...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2016-09-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409816666298 |
| _version_ | 1828492484289757184 |
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| author | Roberto Giugliani MD, PhD Dau-Ming Niu MD, PhD Uma Ramaswami MD Michael West MD Derralynn Hughes MD Christoph Kampmann MD, PhD Guillem Pintos-Morell MD, PhD Kathleen Nicholls MD Jörn-Magnus Schenk MD, PhD Michael Beck MD |
| author_facet | Roberto Giugliani MD, PhD Dau-Ming Niu MD, PhD Uma Ramaswami MD Michael West MD Derralynn Hughes MD Christoph Kampmann MD, PhD Guillem Pintos-Morell MD, PhD Kathleen Nicholls MD Jörn-Magnus Schenk MD, PhD Michael Beck MD |
| author_sort | Roberto Giugliani MD, PhD |
| collection | DOAJ |
| description | 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 (agalα). Established in 2001, FOS provides long-term data on agalα 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. |
| first_indexed | 2024-12-11T11:21:09Z |
| format | Article |
| id | doaj.art-63f79614ee0b4238ae2229500163e13e |
| institution | Directory Open Access Journal |
| issn | 2326-4594 |
| language | English |
| last_indexed | 2024-12-11T11:21:09Z |
| publishDate | 2016-09-01 |
| publisher | SciELO |
| record_format | Article |
| series | Journal of Inborn Errors of Metabolism and Screening |
| spelling | doaj.art-63f79614ee0b4238ae2229500163e13e2022-12-22T01:09:10ZengSciELOJournal of Inborn Errors of Metabolism and Screening2326-45942016-09-01410.1177/232640981666629810.1177_2326409816666298A 15-Year Perspective of the Fabry Outcome SurveyRoberto Giugliani MD, PhD0Dau-Ming Niu MD, PhD1Uma Ramaswami MD2Michael West MD3Derralynn Hughes MD4Christoph Kampmann MD, PhD5Guillem Pintos-Morell MD, PhD6Kathleen Nicholls MD7Jörn-Magnus Schenk MD, PhD8Michael Beck MD9 Medical Genetics Service HCPA, Dep Genet UFRGS and INAGEMP, Porto Alegre, Brazil Taipei Veterans General Hospital and Institute of Clinical Medicine, National Yang-Ming University, School of Medicine, Taipei, Taiwan Royal Free London NHS Foundation Trust, University College of London, London, United Kingdom Department of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada Royal Free London NHS Foundation Trust, University College of London, London, United Kingdom Center for Pediatric and Adolescent Medicine, University Medical Center, University of Mainz, Mainz, Germany Department of Pediatrics, University Hospital “Germans Trias i Pujol,” Universitat Autònoma de Barcelona, Badalona, Spain Department of Nephrology, Royal Melbourne Hospital and University of Melbourne, Victoria, Australia Shire, Zug, Switzerland Center for Pediatric and Adolescent Medicine, University Medical Center, University of Mainz, Mainz, GermanyThe 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 (agalα). Established in 2001, FOS provides long-term data on agalα 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.https://doi.org/10.1177/2326409816666298 |
| spellingShingle | Roberto Giugliani MD, PhD Dau-Ming Niu MD, PhD Uma Ramaswami MD Michael West MD Derralynn Hughes MD Christoph Kampmann MD, PhD Guillem Pintos-Morell MD, PhD Kathleen Nicholls MD Jörn-Magnus Schenk MD, PhD Michael Beck MD A 15-Year Perspective of the Fabry Outcome Survey Journal of Inborn Errors of Metabolism and Screening |
| title | A 15-Year Perspective of the Fabry Outcome Survey |
| title_full | A 15-Year Perspective of the Fabry Outcome Survey |
| title_fullStr | A 15-Year Perspective of the Fabry Outcome Survey |
| title_full_unstemmed | A 15-Year Perspective of the Fabry Outcome Survey |
| title_short | A 15-Year Perspective of the Fabry Outcome Survey |
| title_sort | 15 year perspective of the fabry outcome survey |
| url | https://doi.org/10.1177/2326409816666298 |
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