TY - JOUR
T1 - Global reach of over 20 years of experience in the patient-centered Fabry Registry
T2 - Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community
AU - Wanner, Christoph
AU - Ortiz, Alberto
AU - Wilcox, William R.
AU - Hopkin, Robert J.
AU - Johnson, Jack
AU - Ponce, Elvira
AU - Ebels, Johan T.
AU - Batista, Julie L.
AU - Maski, Manish
AU - Politei, Juan M.
AU - Martins, Ana Maria
AU - Banikazemi, Maryam
AU - Linhart, Aleš
AU - Mauer, Michael
AU - Oliveira, João P.
AU - Weidemann, Frank
AU - Germain, Dominique P.
N1 - Publisher Copyright:
© 2023 The Authors
PY - 2023/7
Y1 - 2023/7
N2 - 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.
AB - 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.
KW - Fabry disease
KW - Registry
KW - agalsidase beta
KW - enzyme replacement therapy
KW - natural history
KW - real-world data
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U2 - 10.1016/j.ymgme.2023.107603
DO - 10.1016/j.ymgme.2023.107603
M3 - Review article
C2 - 37236007
AN - SCOPUS:85160425018
SN - 1096-7192
VL - 139
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 3
M1 - 107603
ER -