Background: Infantile Pompe disease is a rare metabolic disease. Patients generally do not survive the first year of life. Enzyme replacement therapy (ERT) has proven to have substantial effects on survival in infantile Pompe disease. However, the costs of therapy are very high. In this paper, we assess the cost-effectiveness of enzyme replacement therapy in infantile Pompe disease. Methods. A patient simulation model was used to compare costs and effects of ERT with costs of effects of supportive therapy (ST). The model was filled with data on survival, quality of life and costs. For both arms of the model, data on survival were obtained from international literature. In addition, survival as observed among 20 classic-infantile Dutch patients, who all received ERT, was used. Quality of life was measured using the EQ-5D and assumed to be the same in both treatment groups. Costs included the costs of ERT (which depend on a child's weight), infusions, costs of other health care utilization, and informal care. A lifetime time horizon was used, with 6-month time cycles. Results: Life expectancy was significantly longer in the ERT group than in the ST group. On average, ST receiving patients were modelled not to survive the first half year of life; whereas the life expectancy in the ERT patients was modelled to be almost 14 years. Lifetime incremental QALYs were 6.8. Incremental costs were estimated to be 7.0 million, which primarily consisted of treatment costs (95%). The incremental costs per QALY were estimated to be 1.0 million (range sensitivity analyses: 0.3 million - 1.3 million). The incremental cost per life year gained was estimated to be 0.5 million. Conclusions: The incremental costs per QALY ratio is far above the conventional threshold values. Results from univariate and probabilistic sensitivity analyses showed the robustness of the results.

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Keywords Cost-effectiveness, Enzyme replacement therapy, Infants, Pompe disease, Quality adjusted lifeyears
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Journal Orphanet Journal of Rare Diseases
Kanters, T.A, Hoogenboom-Plug, I, Rutten-van Mölken, M.P.M.H, Redekop, W.K, van der Ploeg, A.T, & van Hakkaart-van Roijen, L. (2014). Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease. Orphanet Journal of Rare Diseases, 9(1). doi:10.1186/1750-1172-9-75