OBJECTIVES Late-Onset Pompe disease (LOPD) is an inherited autosomal recessive myopathy, caused by a shortage of the enzyme acid alpha-glucosidase (GAA). Deficiencies of GAA trigger an accumulation of glycogen in tissues which damages skeletal and respiratory muscles, rendering patients progressively dependent on respiratory and ambulatory support. The only authorized medicinal product is the enzyme replacement therapy (ERT) based on alglucosidase alfa (ALG). Avalglucosidase alfa (AVG) was recently developed as an improved formulation as more effective in GAA targeting. The present study aimed at assessing the economic impact on the Italian National Health Service (NHS) with AVG for the treatment of adult LOPD patients in Italy.

METHODS A Budget Impact model was developed to evaluate the 3-year budgetary impact of AVG uptake on the Italian NHS. The target population is adult LOPD patients and the model includes direct medical costs (administration costs, drug costs, resource use costs, adverse events costs, monitoring and management costs). Ex-factory price was used for ALG (parity-price assumption for AVG). Epidemiological and clinical data were elaborated from the Pompe Registry, costs were inferred applying current Italian national tariffs and literature estimations. The robustness of the study was assessed via a deterministic sensitivity analysis (DSA).

RESULTS : 225, 233, and 241 patients are expected to be treated with ERT in the next 3 years, respectively (50% male, average weight 70 kg). In the alternative scenario, 42, 88, and 119 patients start AVG in the next 3 years, respectively. Overall, the adoption of AVG would allow for a cumulative 3-year saving of 33,758 Euros (-0.01%) due to reduction in adverse event costs (-9.1%). The DSA showed that acquisition cost was the main driver of the model outcomes.

CONCLUSIONS : AVG is a sustainable alternative to ALG, mainly due to the reduced adverse events clinical management costs.