Bimonthly, Established in 1959
Open access journal

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



The Fabry Outcome Survey (FOS) is a pivotal registry initiated in 2001 that has significantly contributed to the global understanding of Fabry Disease (FD), a rare genetic disorder characterized by the buildup of globotriaosylceramide due to deficient α-galactosidase A enzyme activity. The survey has involved numerous centers and has aggregated a vast amount of data over two decades, providing invaluable insights into the natural history, treatment efficacy, and progression of the disease.

Key Findings

  • Patient Enrollment and Scope: As of January 2021, the FOS included over 4,484 patients from 144 centers across 26 countries, underscoring its extensive reach and the broad applicability of its findings.
  • Disease Management and Treatment Insights: The FOS has been instrumental in enhancing the understanding of FD across various demographics, including gender-specific manifestations and age-related complications. This comprehensive data collection has led to improved patient management strategies and earlier initiation of treatments such as enzyme replacement therapy (ERT) and chaperone therapy.
  • Instrument Development: Several tools and indices were developed from the FOS data to better assess and quantify disease severity and prognosis. These include the FOS Mainz Severity Score Index (FOS-MSSI) and the Fabry International Prognostic Index (FIPI), which help clinicians predict clinical events and tailor treatments to individual patient needs.
  • Publications and Research Influence: Nearly 60 manuscripts utilizing FOS data have been published, significantly contributing to the peer-reviewed literature on FD. These publications have addressed a range of topics from the genetics of FD to the impact of specific treatments on organ-specific manifestations.

Lessons Learned

The FOS exemplifies the power of a well-maintained disease registry in fostering collaborative research and enhancing both clinical and genetic understanding of a complex disorder. The data obtained have clarified the disease’s heterogeneity and informed better, more personalized approaches to care.


The Fabry Outcome Survey has not only filled many gaps in the understanding of Fabry Disease but also highlighted the necessity for ongoing, meticulous data collection to continue advancing patient care and treatment methodologies. The lessons learned from FOS underscore the importance of global cooperation in tackling rare diseases.