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

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.

Cystatin C as a marker of early changes of renal function in Fabry nephropathy.

Background: A sensitive, feasible and reproducible marker for renal function is necessary to evaluate the clinical efficacy of enzyme replacement therapy (ERT) in Fabry nephropathy. Serum creatinine has some limitations and cystatin C has been proposed, in other nephropathies, as a useful marker of renal function. The use of cystatin C as a marker of glomerular filtration rate (GFR) was investigated in Fabry patients receiving ERT.