Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

Orphanet J Rare Dis. 2022 Jun 20;17(1):238. doi: 10.1186/s13023-022-02392-9.

PMID: 35725623

Michael Beck, Uma Ramaswami, Elizabeth Hernberg-Ståhl

Highlights: This study reviews the history of the Fabry Outcome Survey (FOS) and the analyses and publications disseminated from the registry, and discusses the contributions FOS studies have made in understanding Fabry Disease (FD).

Abstract

Background: Patient registries offer long-term, real-world information that contribute to our understanding of disease development and natural history, as well as the effects of treatment on large patient groups with rare diseases. The Fabry Outcome Survey (FOS), an international, multicenter, observational registry, will celebrate its 20th anniversary in 2021. (NCT03289065). The main goals of FOS are to enhance the management of individuals with Fabry disease (FD), an X-linked lysosomal storage disorder, and to increase knowledge about the condition. This study examines the development of FOS, as well as the analyses and literature that have been shared from the registry, and discusses about how FOS studies have helped to comprehend FD.

Results: FOS was started in April 2001, and as of January 2021, 4484 patients from 144 sites in 26 countries had been registered with a confirmed diagnosis and patient informed consent. Nearly 60 articles on a variety of FD-related topics have included data from FOS. The long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa, as well as its effects on morbidity and mortality, have been examined through analyses of FOS data. These analyses also looked into the advantages of prompt and early treatment with agalsidase alfa on the progression of cardiomyopathy and the decline in renal function associated with FD. ERT with agalsidase alfa has also been demonstrated to improve additional FD signs and symptoms observed by patients based on studies of FOS data. In addition to providing useful tools for the research of FD, FOS data analyses have improved the understanding of the natural history of FD and the specific populations of women, children, and the elderly. The understanding of the difficulties and requirements of long-term data collection in rare diseases has greatly improved thanks to FOS, which has also provided methodology and criteria for evaluating disease severity. This has helped future studies of rare diseases that will use real-world evidence.

Conclusion: The scientific understanding of better patient care of FD has significantly increased over the past 20 years thanks to FOS, and this rare disease is still being better understood thanks to this research.

Keywords: Agalsidase alfa, Cardiovascular outcomes, Enzyme replacement therapy, Fabry disease, Renal outcomes