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

Authors

Christoph Wanner, Department of Medicine, Division of Nephrology, University Hospital of Würzburg, Würzburg, Germany. Electronic address: Wanner_C@ukw.de.
Alberto Ortiz, Jiménez Díaz Foundation University Hospital and IIS-Fundación Jiménez Díaz UAM, Madrid, Spain; Department of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.
William R. Wilcox, Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Robert J. Hopkin, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, USA; Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Jack Johnson, Fabry Support & Information Group, Concordia, MO, USA.
Elvira Ponce, Global Medical Affairs, Rare Nephrology, Sanofi, Cambridge, MA, USA.
Johan T. Ebels, Global Medical Affairs, Rare Nephrology, Sanofi, Cambridge, MA, USA.
Julie L. Batista, Epidemiology/Biostatistics, Sanofi, Cambridge, MA, USA.
Manish Maski, Global Medical Affairs, Rare Nephrology, Sanofi, Cambridge, MA, USA.
Juan M. Politei, Foundation for the Study of Neurometabolic Diseases, FESEN, Buenos Aires, Argentina.
Ana Maria Martins, Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil.
Maryam Banikazemi, Advanced Medical Genetics, Westchester Medical Center, Valhalla, NY, USA; New York Medical College and New York Health & Hospital, New York, NY, USA.Follow
Aleš Linhart, Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic; General University Hospital, Prague, Czech Republic.
Michael Mauer, Departments of Pediatrics and Medicine, University of Minnesota, Minneapolis, MN, USA.
João P. Oliveira, Service of Human Genetics, São João University Hospital Centre; Unit of Genetics, Department of Pathology, Faculty of Medicine, University of Porto, Porto, Portugal.
Frank Weidemann, Department of Medicine I, Klinikum Vest GmbH, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Recklinghausen, Germany.
Dominique P. Germain, French Referral Center for Fabry disease and MetabERN European Reference Network for Inherited Metabolic Diseases, Division of Medical Genetics, University of Versailles, Paris-Saclay University, Montigny, France.

Author Type(s)

Faculty

DOI

10.1016/j.ymgme.2023.107603

Journal Title

Molecular Genetics and Metabolism

First Page

107603

Document Type

Article

Publication Date

7-1-2023

Department

Pediatrics

Abstract

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.

Recommended Citation

Wanner, C., Ortiz, A., Wilcox, W. R., Hopkin, R. J., Johnson, J., Ponce, E., Ebels, J. T., Batista, J. L., Maski, M., Politei, J. M., Martins, A. M., Banikazemi, M., Linhart, A., Mauer, M., Oliveira, J. P., Weidemann, F., & Germain, D. P. (2023). 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. Molecular Genetics and Metabolism, 139 (3), 107603. https://doi.org/10.1016/j.ymgme.2023.107603