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Fabry disease: overall effects of agalsidase alfa treatment


  • Department of Paediatrics, University of Mainz, Mainz, Germany (M. Beck); Institute of Clinical Paediatrics, UCSU, Rome, Italy (R. Ricci); Department of Medicine, University of Zurich, Zurich, Switzerland (U. Widmer); Department of Nephrology, CHU de Charleroi, Belgium (F. Dehout); Formación Médica Continuada Hospital Universitario, Madrid, Spain (A. García de Lorenzo); 2nd Department of Internal Medicine, Charles University, Prague, Czech Republic (A. Linhart); Department of Medicine III, Medical University, Vienna, Austria (G. Sunder-Plassmann); Department of Paediatrics, University Hospital Haukeland, Bergen, Norway (G. Houge); Department of Paediatrics, Addenbrookes Hospital, Cambridge, UK (U. Ramaswami); Institute of Human Genetics, University of Hamburg, Hamburg, Germany (A. Gal ); Department of Haematology, Royal Free Hospital, London, UK (A. Mehta).

Professor M. Beck, Department of Paediatrics, University of Mainz, Langenbeckstrasse 1, 55101 Mainz, Germany. Tel.: +49 6131 17 5754; fax: +49 6131 17 6693; e-mail:


Background  Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. The Fabry Outcome Survey (FOS) is a European outcomes database which was established to collect data on the natural history of this little-known disease and to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. This paper presents the first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life.

Design  The effects of 1 and 2 years of ERT with agalsidase alfa on renal function (assessed by estimated glomerular filtration rate), heart size (assessed by echocardiography), pain (assessed by the Brief Pain Inventory) and quality of life (assessed by the European Quality of Life Questionnaire EQ-5D) were analyzed in a cohort of 545 patients, 314 of whom were receiving treatment (188 for at least 12 months and 92 for at least 24 months; mean duration of treatment, 17 months; maximum duration, 56 months).

Results  Treatment with agalsidase alfa stabilized renal function in patients with a mild or moderate deterioration in renal function at baseline, reduced left ventricular size in patients who had an enlarged heart at baseline, and improved pain scores and quality of life. These improvements were similar in hemizygous men and heterozygous women with Fabry disease.

Conclusions  Enzyme replacement therapy with agalsidase alfa leads to significant clinical benefits in patients with Fabry disease, and treatment is likely to alter the natural history of this disorder.