Objective: The objective of this paper is to assess the economic profile of enzyme replacement therapy (ERT) to symptomatic patients with Pompe, Fabry, Gaucher disease and Lysosomal acid lipase (LAL) deficiency.
Methods: A systematic search was performed to retrieve and critically assess economic evaluations of enzyme replacement therapy. Publications were screened according to predefined criteria and evaluated according to the Quality of Economic Studies. Data were narratively synthesized.
Results: The Incremental Cost-Effectiveness Ratio greatly exceeded willingness to pay thresholds. The cost of the medication dominated the sensitivity analysis. For Infantile-onset Pompe's disease, the incremental cost-effectiveness ratio (ICER) was estimated at €1.043.868 per Quality-adjusted life year (QALY) based on the dose of alglucosidase 40 mg/kg/ week, and €286.114 per QALY for 20 mg of alglucosidase/kg/2 weeks. For adults patients presenting with Pompe disease the reported was ICER € 1.8 million/ QALY. In the case of Fabry disease, the ICER per QALY amounts to 6.1 million Euros/QALY. Respectively for Gaucher's disease, the ICER /QALY was estimated at € 884,994 per QALY. Finally, for patients presenting LAL deficiency NCPE perpetuated an ICER of €2,701,000/QALY.
Discussion: ERT comprise a promising treatment modality for orphan diseases; nevertheless, it is interlaced with a substantial economic burden. Moreover, the available data on the cost-effectiveness ratio are scarce. For certain diseases, such as Fabry, a thorough selection of patients could exert a beneficial effect on the reported ICER. Steep price reductions are imperative for these products, in the conventional reimbursement pathway or a new assessment framework should be elaborated, which in principle, should target uncertainty.
Keywords: Cost; Cost-effectiveness; Enzyme replacement therapy (ERT); Fabry disease; Gaucher disease; Lysosomal acid lipase (LAL) deficiency; Lysosomal storage diseases (LSD); Pompe disease; Quality of life.
© 2022. The Author(s).