Modelling the resource implications of managing adults with Fabry disease in Italy


Professor Julian F. Guest, Catalyst Health Economics Consultants, 34b High Street, Northwood, Middlesex HA6 1BN, UK. Tel.: +44 (0) 1923 450045; fax: +44 (0) 1923 450046; e-mail:


Eur J Clin Invest 2011; 41 (7): 710–718


Aims  This study estimated the resource implications and budget impact of managing adults with Fabry disease in Italy, from the perspective of the Servizio Sanitario Nazionale (SSN).

Methods  A decision model was constructed using published clinical outcomes and clinician-derived resource utilisation estimates depicting the management of adults with Fabry disease in Italy.

Results  The expected annual cost of managing 220 existing and 20 new Fabry patients in Italy was estimated to be €28·3 million. In an average year, patients receiving enzyme replacement therapy (ERT) with 0·2 mg kg−1 agalsidase alfa (Replagal®; Shire Human Genetic Therapies, Basingstoke, Hampshire, UK) or 1·0 mg kg−1 agalsidase beta (Fabrazyme®; Genzyme Europe BV, Naarden, The Netherlands) are collectively expected to make 4500 hospital attendances to a day ward for infusions, which equates to 2000 eight-h days on the day ward associated with ERT. If all ERT-treated patients received their infusions at home, there would be a marginal reduction in the annual health care cost to manage these patients, and the total annual number of days on the day ward associated with ERT in the second year could potentially be reduced from a mean 2000 to zero, thereby releasing substantial hospital resources for use by non-Fabry patients. Currently, only agalsidase alfa is licensed for home treatment in Italy; hence, only patients receiving this enzyme could be offered home treatment.

Conclusions  Use of agalsidase alfa (0·2 mg kg−1) instead of agalsidase beta (1·0 mg kg−1) has the potential to reduce health care costs and release hospital resources in different specialities for alternative use by non-Fabry patients, thereby improving the efficiency of the public health care system in Italy.