Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A Hughes, Christoph Kampmann, Atul B Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani, Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A Hughes, Christoph Kampmann, Atul B Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani

Abstract

Background: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients. Here, we review the history of FOS and the analyses and publications disseminated from the registry, and we discuss the contributions FOS studies have made in understanding FD.

Results: FOS was initiated in April 2001 and, as of January 2021, 4484 patients with a confirmed diagnosis and patient informed consent have been enrolled from 144 centers across 26 countries. Data from FOS have been published in nearly 60 manuscripts on a wide variety of topics relevant to FD. Analyses of FOS data have investigated the long-term effectiveness and safety of enzyme replacement therapy (ERT) with agalsidase alfa and its effects on morbidity and mortality, as well as the benefits of prompt and early treatment with agalsidase alfa on the progression of cardiomyopathy and the decline in renal function associated with FD. Based on analyses of FOS data, ERT with agalsidase alfa has also been shown to improve additional signs and symptoms of FD experienced by patients. FOS data analyses have provided a better understanding of the natural history of FD and the specific populations of women, children, and the elderly, and have provided practical tools for the study of FD. FOS has also provided methodology and criteria for assessing disease severity which contributed to the continuous development of medical practice in FD and has largely improved our understanding of the challenges and needs of long-term data collection in rare diseases, aiding in future rare disease real-world evidence studies.

Conclusion: FOS over the last 20 years has substantially increased the scientific knowledge around improved patient management of FD and continues to expand our understanding of this rare disease.

Keywords: Agalsidase alfa; Cardiovascular outcomes; Enzyme replacement therapy; Fabry disease; Renal outcomes.

Conflict of interest statement

MB reports honoraria for speaking and/or advisory boards from Sanofi Genzyme and Takeda. He is a member of the FOS Steering Committee. UR reports honoraria for speaking and/or advisory boards from Amicus Therapeutics, Sanofi Genzyme, and Takeda, and research grants from Amicus Therapeutics and Takeda. She is a member of the FOS Steering Committee. EH-S reports no conflict of interest. DAH reports honoraria from Amicus Therapeutics, Freeline Therapeutics, Idorsia, Protalix, Sanofi Genzyme, and Takeda. She is a member of the FOS Steering Committee. CK reports honoraria for speaking and/or advisory boards from Amicus, BioMarin, Gore, and Takeda. He is a member of the FOS Steering Committee. ABM reports honoraria from Amicus Therapeutics, Avrobio, Freeline Therapeutics, Protalix, Sanofi Genzyme, and Takeda. He is a former member of the FOS Steering Committee and past chair of the FOS Steering Committee. KN reports honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda. She is a member of the FOS Steering Committee. D-MN reports honoraria and speaker fees from Sanofi Genzyme and Takeda, and research grants from BioMarin, Sanofi Genzyme, and Takeda. He is a member of the FOS Steering Committee. GP-M reports honoraria from Alexion, Amicus, BioMarin, Sanofi Genzyme, and Takeda, and unrestricted grants from Sanofi Genzyme and Takeda to the Vall d’Hebron Research Foundation for funding research on rare diseases. He is a member of the FOS Steering Committee. RR reports honoraria, speaker fees, and consulting fees from Amicus Therapeutics, CSL Behring, Gador, Sanofi Genzyme, Novartis, and Takeda. He is a member of the FOS Steering Committee. MLW reports grants, personal fees, and travel support from Amicus Therapeutics, Idorsia, Protalix, Sanofi Genzyme, and Takeda. He is a member of the FOS Steering Committee. JS is an employee of Takeda Pharmaceuticals International AG. and is a stockholder of Takeda Pharmaceuticals Company Limited. CA is an employee of Takeda Pharmaceuticals International AG and is a stockholder of Takeda Pharmaceuticals Company Limited. JB is an employee of Takeda Pharmaceuticals International AG and is a stockholder of Takeda Pharmaceuticals Company Limited. RG reports honoraria, consulting fees, speaker fees, research funding, and/or travel reimbursement from Abeona, Allievex, Amicus Therapeutics, Avrobio, Azafaros, BioMarin, Chiesi, Denali Therapeutics, Idorsia, Inventiva, Janssen, JCR Pharmaceuticals, Lysogene, Novartis, Paradigm Biopharma, Passage Bio, Protalix, PTC Therapeutics, Regenxbio, Sanofi Genzyme, Sigilon, Sobi, Takeda, and Ultragenyx. He is a member and current chair of the FOS Steering Committee.

© 2022. The Author(s).

Figures

Fig. 1
Fig. 1
Highlights of FOS publications and their contribution to the understanding of Fabry disease. ERT enzyme replacement therapy, FD Fabry disease, FOS Fabry Outcome Survey
Fig. 2
Fig. 2
Summary of Fabry Outcome Survey data relating to age at onset, diagnosis, and treatment initiation for adults and children. *p < 0.001 vs. earlier period. Data from Reisin et al. [32]

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