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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
C. Wanner, A. Ortiz, WR. Wilcox, RJ. Hopkin, J. Johnson, E. Ponce, JT. Ebels, JL. Batista, M. Maski, JM. Politei, AM. Martins, M. Banikazemi, A. Linhart, M. Mauer, JP. Oliveira, F. Weidemann, DP. Germain
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, přehledy
- MeSH
- alfa-galaktosidasa genetika terapeutické užití MeSH
- enzymová substituční terapie metody MeSH
- Fabryho nemoc * farmakoterapie epidemiologie genetika MeSH
- fenotyp MeSH
- lidé MeSH
- péče orientovaná na pacienta MeSH
- pozorovací studie jako téma MeSH
- registrace MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
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
Department of Medicine Division of Nephrology University Hospital of Würzburg Würzburg Germany
Department of Medicine Universidad Autónoma de Madrid Madrid Spain
Department of Pediatrics University of Cincinnati College of Medicine Cincinnati OH USA
Departments of Pediatrics and Medicine University of Minnesota Minneapolis MN USA
Division of Human Genetics Cincinnati Children's Hospital Medical Center 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
General University Hospital Prague Czech Republic
Global Medical Affairs Rare Nephrology Sanofi Cambridge MA USA
Jiménez Díaz Foundation University Hospital and IIS Fundación Jiménez Díaz UAM Madrid Spain
New York Medical College and New York Health and Hospital New York NY USA
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
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- $a 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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