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

• Type: Article in International Scientific Journal
• Date: 2023

Authors

Wanner, C (Author) Other; Ortiz, A (Author) Other; Wilcox, WR (Author) Other; Hopkin, RJ (Author) Other; Johnson, J (Author) Other; Ponce, E (Author) Other; Ebels, JT (Author) Other; Batista, JL (Author) Other; Maski, M (Author) Other; Politei, JM (Author) Other; Martins, AM (Author) Other; Banikazemi, M (Author) Other; Linhart, A (Author) Other; Mauer, M (Author) Other; João Paulo Oliveira (Author) FMUP; Weidemann, F (Author) Other; Germain, DP (Author) Other

Journal

Title: Molecular Genetics and Metabolism

Vol. 139

ISSN: 1096-7192

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 4 Citations

Scopus - 4 Citations

Other information

Authenticus ID: P-00Y-GGK

DOI: 10.1016/j.ymgme.2023.107603

Abstract (EN): Fabry disease (FD, & alpha;-galactosidase A deficiency) is a rare, progressive, complex lysosomal storage disorder affect-ing 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 com-munity, 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. & COPY; 2023 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 11