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Cost-effectiveness of enzyme replacement therapy for Fabry disease

Saskia M Rombach1, Carla EM Hollak1, Gabor E Linthorst1 and Marcel GW Dijkgraaf2*

Author Affiliations

1 Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Centre, PO Box 22660, 1100, Amsterdam, DD, The Netherlands

2 Clinical Research Unit. Academic Medical Centre, PO Box 22660, 1100, Amsterdam, DD, The Netherlands

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Orphanet Journal of Rare Diseases 2013, 8:29  doi:10.1186/1750-1172-8-29

Published: 19 February 2013



The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease.


Cost-effectiveness analysis was performed using a life-time state-transition model. Transition probabilities, effectiveness data and costs were derived from retrospective data and prospective follow-up of the Dutch study cohort consisting of males and females aged 5–78 years. Intervention with ERT (either agalsidase alfa or agalsidase beta) was compared to the standard medical care. The main outcome measures were years without end organ damage (renal, cardiac en cerebrovascular complications), quality adjusted life years (QALYs), and costs.


Over a 70 year lifetime, an untreated Fabry patient will generate 55.0 years free of end-organ damage (53.5 years in males, 56.9 years in females) and 48.6 QALYs (47.8 in males, 49.7 in females). Starting ERT in a symptomatic patient increases the number of years free of end-organ damage by 1.5 year (1.6 in males, 1.3 in females), while the number of QALYs gained increases by a similar amount (1.7 in males, 1.4 in females). The costs of ERT starting in the symptomatic stage are between €9 - €10 million (£ 7.9 - £ 8.8 million, $13.0- $14.5 million) during a patient’s lifetime. Consequently, the extra costs per additional year free of end-organ damage and the extra costs per additional QALY range from €5.5 - €7.5 million (£ 4.8 – £ 6.6 million, $ 8.0 – $ 10.8 million), undiscounted.


In symptomatic patients with Fabry disease, ERT has limited effect on quality of life and progression to end organ damage. The pharmaco-economic evaluation shows that this modest effectiveness drives the costs per QALY and the costs per year free of end-organ damage to millions of euros. Differentiation of patients who may benefit from ERT should be improved to enhance cost-effectiveness.