Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl, Derralynn A Hughes, Christoph Kampmann, Atul B Mehta, Kathleen Nicholls, Dau-Ming Niu, Guillem Pintos-Morell, Ricardo Reisin, Michael L West, Jörn Schenk, Christina Anagnostopoulou, Jaco Botha, Roberto Giugliani
BACKGROUND: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the effects of treatment on large patient populations with rare diseases. The year 2021 marks the 20th anniversary of the Fabry Outcome Survey (FOS), an international, multicenter, observational registry (NCT03289065). The primary aims of FOS are to broaden the understanding of Fabry disease (FD), an X-linked lysosomal storage disorder, and to improve the clinical management of affected patients...
June 20, 2022: Orphanet Journal of Rare Diseases