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.

Advanced Medical Genetics Westchester Medical Center Valhalla NY USA; New York Medical College and New York Health and Hospital New York NY USA

Department of Cardiovascular Medicine 1st Faculty of Medicine Charles University Prague Czech Republic; General University Hospital Prague Czech Republic

Department of Medicine 1 Klinikum Vest GmbH Knappschaftskrankenhaus Recklinghausen Academic Teaching Hospital Recklinghausen Germany

Department of Medicine Division of Nephrology University Hospital of Würzburg Würzburg Germany

Departments of Pediatrics and Medicine University of Minnesota Minneapolis MN USA

Division of Human Genetics Cincinnati Children's Hospital Medical Center USA; Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA

Division of Medical Genetics Department of Human Genetics Emory University School of Medicine Atlanta GA USA

Epidemiology Biostatistics Sanofi Cambridge MA USA

Fabry Support and Information Group Concordia MO USA

Foundation for the Study of Neurometabolic Diseases FESEN Buenos Aires Argentina

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

Global Medical Affairs Rare Nephrology Sanofi Cambridge MA USA

Jiménez Díaz Foundation University Hospital and IIS Fundación Jiménez Díaz UAM Madrid Spain; Department of Medicine Universidad Autónoma de Madrid Madrid Spain

Reference Center for Inborn Errors of Metabolism Federal University of São Paulo São Paulo Brazil

Service of Human Genetics São João University Hospital Centre; Unit of Genetics Department of Pathology Faculty of Medicine University of Porto Porto Portugal

Citace poskytuje Crossref.org

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease