Abstract
The Fabry Outcome Survey (FOS) is an international long-term observational registry sponsored by Shire for patients diagnosed with Fabry disease who are receiving or are candidates for therapy with agalsidase alfa (agala). Established in 2001, FOS provides long-term data on agala safety/efficacy and collects data on the natural history of Fabry disease, with the aim of improving clinical management. The FOS publications have helped establish prognostic and severity scores, defined the incidence of specific disease variants and implications for clinical management, described clinical manifestations in special populations, confirmed the high prevalence of cardiac morbidity, and demonstrated correlations between ocular changes and Fabry disease severity. These FOS data represent a rich resource with utility not only for description of natural history/therapeutic effects but also for exploratory hypothesis testing and generation of tools for diagnosis/management, with the potential to improve future patient outcomes.
Highlights
Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of the hydrolytic enzyme a-galactosidase A (a-Gal A).[1]
The aim of this review is to summarize the key attributes of Fabry Outcome Survey (FOS) and describe the major contributions to the understanding and treatment of Fabry disease from FOS over its first 15 years
The FOS steering committee is well balanced across medical specialties and geographic regions, enabling a broad approach to the rich data generated by FOS
Summary
Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of the hydrolytic enzyme a-galactosidase A (a-Gal A).[1]. Fabry disease was considered to primarily affect male hemizygotes, virtually all of whom exhibit progressive kidney dysfunction[14]; female heterozygotes are not merely carriers of Fabry disease and can portray all the signs and symptoms of Fabry disease, albeit with a later onset and more variable phenotype than that observed in males.[4,5]
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