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

doi:10.1186/s13023-022-02392-9

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

Medicine

Research output: Contribution to journal › Review article › peer-review

43 Citations (Scopus)

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.

Original language	English
Article number	238
Journal	Orphanet Journal of Rare Diseases
Volume	17
Issue number	1
DOIs	https://doi.org/10.1186/s13023-022-02392-9
Publication status	Published - Dec 2022

Bibliographical note

Funding Information:
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.

Funding Information:
The authors would like to thank the patients enrolled in FOS, their caregivers, and the FOS physicians and their staff. The authors would also like to thank previous members of the FOS Steering Committee and the investigators involved in previous FOS publications. Under the direction of the authors, Latoya M. Mitchell, PhD, CMPP and Lindsay Napier, PhD, CMPP, employees of Excel Medical Affairs, provided writing assistance for this publication. Editorial assistance in formatting, proofreading, copy editing, and fact-checking was also provided by Excel Medical Affairs.

Funding Information:
FOS is funded by Takeda Pharmaceuticals International AG, which also assisted in analyzing the data and preparing the manuscript. Takeda Development Center Americas, Inc. provided funding to Excel Medical Affairs for support in writing and editing this manuscript.

Publisher Copyright:
© 2022, The Author(s).

ASJC Scopus Subject Areas

Genetics(clinical)
Pharmacology (medical)

PubMed: MeSH publication types

Journal Article
Review
Research Support, Non-U.S. Gov't

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1186/s13023-022-02392-9

Cite this

Beck, M., Ramaswami, U., Hernberg-Ståhl, E., Hughes, D. A., Kampmann, C., Mehta, A. B., Nicholls, K., Niu, D. M., Pintos-Morell, G., Reisin, R., West, M. L., Schenk, J., Anagnostopoulou, C., Botha, J., & Giugliani, R. (2022). Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet Journal of Rare Diseases, 17(1), Article 238. https://doi.org/10.1186/s13023-022-02392-9

Beck, M, Ramaswami, U, Hernberg-Ståhl, E, Hughes, DA, Kampmann, C, Mehta, AB, Nicholls, K, Niu, DM, Pintos-Morell, G, Reisin, R, West, ML, Schenk, J, Anagnostopoulou, C, Botha, J & Giugliani, R 2022, 'Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry', Orphanet Journal of Rare Diseases, vol. 17, no. 1, 238. https://doi.org/10.1186/s13023-022-02392-9

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

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.",

author = "Michael Beck and Uma Ramaswami and Elizabeth Hernberg-St{\aa}hl and Hughes, {Derralynn A.} and Christoph Kampmann and Mehta, {Atul B.} and Kathleen Nicholls and Niu, {Dau Ming} and Guillem Pintos-Morell and Ricardo Reisin and West, {Michael L.} and J{\"o}rn Schenk and Christina Anagnostopoulou and Jaco Botha and Roberto Giugliani",

note = "Funding Information: 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{\textquoteright}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. Funding Information: The authors would like to thank the patients enrolled in FOS, their caregivers, and the FOS physicians and their staff. The authors would also like to thank previous members of the FOS Steering Committee and the investigators involved in previous FOS publications. Under the direction of the authors, Latoya M. Mitchell, PhD, CMPP and Lindsay Napier, PhD, CMPP, employees of Excel Medical Affairs, provided writing assistance for this publication. Editorial assistance in formatting, proofreading, copy editing, and fact-checking was also provided by Excel Medical Affairs. Funding Information: FOS is funded by Takeda Pharmaceuticals International AG, which also assisted in analyzing the data and preparing the manuscript. Takeda Development Center Americas, Inc. provided funding to Excel Medical Affairs for support in writing and editing this manuscript. Publisher Copyright: {\textcopyright} 2022, The Author(s).",

year = "2022",

month = dec,

doi = "10.1186/s13023-022-02392-9",

language = "English",

volume = "17",

journal = "Orphanet Journal of Rare Diseases",

issn = "1750-1172",

publisher = "BioMed Central",

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TY - JOUR

T1 - Twenty years of the Fabry Outcome Survey (FOS)

T2 - insights, achievements, and lessons learned from a global patient registry

AU - Beck, Michael

AU - Ramaswami, Uma

AU - Hernberg-Ståhl, Elizabeth

AU - Hughes, Derralynn A.

AU - Kampmann, Christoph

AU - Mehta, Atul B.

AU - Nicholls, Kathleen

AU - Niu, Dau Ming

AU - Pintos-Morell, Guillem

AU - Reisin, Ricardo

AU - West, Michael L.

AU - Schenk, Jörn

AU - Anagnostopoulou, Christina

AU - Botha, Jaco

AU - Giugliani, Roberto

N1 - Funding Information: 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. Funding Information: The authors would like to thank the patients enrolled in FOS, their caregivers, and the FOS physicians and their staff. The authors would also like to thank previous members of the FOS Steering Committee and the investigators involved in previous FOS publications. Under the direction of the authors, Latoya M. Mitchell, PhD, CMPP and Lindsay Napier, PhD, CMPP, employees of Excel Medical Affairs, provided writing assistance for this publication. Editorial assistance in formatting, proofreading, copy editing, and fact-checking was also provided by Excel Medical Affairs. Funding Information: FOS is funded by Takeda Pharmaceuticals International AG, which also assisted in analyzing the data and preparing the manuscript. Takeda Development Center Americas, Inc. provided funding to Excel Medical Affairs for support in writing and editing this manuscript. Publisher Copyright: © 2022, The Author(s).

PY - 2022/12

Y1 - 2022/12

N2 - 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.

AB - 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.

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

Abstract

Bibliographical note

ASJC Scopus Subject Areas

PubMed: MeSH publication types

UN SDGs

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