Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.

Fabry disease (FD, α-galactosidase A deficiency) is a rare, progressive, complex lysosomal storage disorder affecting multiple organ systems with a diverse spectrum of clinical phenotypes, particularly among female patients. Knowledge of its clinical course was still limited in 2001 when FD-specific therapies first became available and the Fabry Registry (NCT00196742; sponsor: Sanofi) was initiated as a global observational study. The Fabry Registry has now been operational for over 20 years, overseen by expert Boards of Advisors, and has collected real-world demographic and longitudinal clinical data from more than 8000 individuals with FD. Leveraging the accumulating evidence base, multidisciplinary collaborations have resulted in the creation of 32 peer-reviewed scientific publications, which have contributed to the greatly expanded knowledge on the onset and progression of FD, its clinical management, the role of sex and genetics, the outcomes of enzyme replacement therapy with agalsidase beta, and prognostic factors. We review how the Fabry Registry has evolved from its inception to become the largest global source of real-world FD patient data, and how the generated scientific evidence has helped to better inform the medical community, individuals living with FD, patient organizations, and other stakeholders. The patient-centered Fabry Registry fosters collaborative research partnerships with the overarching goal of optimizing the clinical management of patients with FD and is well positioned to add to its past achievements.

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Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest C.W. has received honoraria for board meetings and lecturing from Amicus Therapeutics, Chiesi Pharmaceuticals, Idorsia Pharmaceuticals, Sanofi, and Takeda. A.O. has received grants from Sanofi and consultancy, speaker fees or travel support from Advicenne, Alexion, Amgen, Amicus Therapeutics, Astellas, AstraZeneca, Bayer, Chiesi Pharmaceuticals, Fresenius Medical Care, GlaxoSmithKline, Idorsia Pharmaceuticals, Kyowa Kirin, Menarini, Novo-Nordisk, Otsuka, and Vifor Fresenius Medical Care Renal Pharma, and is Director of the Cátedra Mundipharma-UAM of diabetic kidney disease and the Cátedra AstraZeneca-UAM of chronic kidney disease and electrolytes. W.R.W. is a member of the Fabry Registry Board of Advisors, has consulted for Amicus Therapeutics, Sanofi, Spark, Takeda, and UniQure, and has been an investigator in clinical studies for Fabry disease sponsored by Amicus Therapeutics, Chiesi Pharmaceuticals, Freeline Therapeutics, Idorsia Pharmaceuticals, 4D Molecular Therapeutics, Protalix Biotherapeutics, Sangamo Therapeutics, and Sanofi. These activities are monitored and are in compliance with the conflict-of-interest policies at Emory University School of Medicine. R.J.H. is a member of the Fabry Registry Advisory Board, consults with Amicus Therapeutics and Sanofi, and has been an investigator in clinical trials sponsored by Amicus Therapeutics, Idorsia Pharmaceuticals, Protalix Biotherapeutics, Sangamo Therapeutics, Sanofi, and Takeda. These activities have been monitored and found to be in compliance with the conflict-of-interest policies at Cincinnati Children's Hospital Medical Center. J.J. has received honoraria from Sanofi, and travel support from Amicus Therapeutics and Sanofi. E.P., J.T.E., J.L.B., and Ma.M. are full-time employees of Sanofi and may hold/have held stock and/or stock options in that company. J.M.P. has received honoraria from Amicus Therapeutics, Sanofi, and Takeda, and consulting fees from Sanofi and Takeda. A.M.M. has received Advisory Board honoraria from Astra Zeneca-Alexion Pharmaceuticals, BioMarin Pharmaceutical, JCR Pharmaceuticals, and Sanofi, and speaker honoraria and travel support from Astra Zeneca-Alexion Pharmaceuticals, BioMarin Pharmaceutical, Chiesi Pharmaceuticals, JCR Pharmaceuticals, and Sanofi. M.B. is a member of the Fabry Registry Advisory Board and has received honoraria for consultancies, honoraria for disease registry advisory board meetngs, honoraria for lecturing and support for research from Sanofi. She also has received consulting and/or lecturing honoraria from Amicus Therapeutics and Chiesi Pharmaceuticals. A.L. has received consulting honoraria from Amicus Therapeutics, Sanofi Genzyme, and Takeda, and speaker honoraria and travel support from Sanofi Genzyme and Takeda. Mi.M. is a member of the Fabry Registry Board, has an investigator-initiated research grant from Sanofi, performs laboratory work and is a consultant to Sanofi for clinical trial design, received speaker fees and travel support from Sanofi for non-promotional presentations (these interests have been reviewed and managed by the University of Minnesota in accordance with its conflict-of-interest policies), is a consultant and performs laboratory work for Amicus Therapeutics, and is a consultant to Acelink Therapeutics, Avrobio, Freeline Therapeutics, and Sangamo Therapeutics. J.P.O. is member of the European Advisory Board of the Fabry Registry and has received honoraria for consultancies, honoraria for disease registry advisory board, honoraria for lecturing and support for research from Sanofi. He also has received consulting and/or lecturing honoraria from Amicus Therapeutics, Chiesi Pharmaceuticals and Takeda, and support for travel and accommodation from Amicus Therapeutics, Sanofi, and Takeda. F.W. has received research grants from Sanofi and Takeda and speaker honoraria from Amicus Therapeutics, Sanofi, and Takeda. D.P.G. has received grants and consultancy fees from Chiesi Pharmaceuticals, Idorsia Pharmaceuticals, Sanofi, and Takeda, and travel support from Sanofi.