Fabry Disease: Perspectives from 5 Years of FOS

Excerpt

Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers general aspects of LSDs, with chapters on topics as diverse as the cellular pathophysiology of lysosomes, the development of enzyme replacement therapy (ERT), the central role played by patient groups, and the regulatory framework governing the treatment of orphan diseases. The second section describes the role of observational outcome surveys and the organization and development of FOS. The third and fourth sections draw largely, but not exclusively, from data in FOS. They describe the clinical features and natural course of Fabry disease and the multiple beneficial effects of ERT with agalsidase alfa on the function of affected organs and quality of life.

By the end of 2005, FOS contained comprehensive information on over 750 patients from 13 countries. This outcome survey has therefore been able to greatly extend the information previously available from limited small-scale clinical trials, and reflects the clinical picture of Fabry disease and its response to ERT with agalsidase alfa within the context of normal clinical practice.