Abstract
ObjectiveTo evaluate the cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care without ERT in the Dutch cohort of patients with type 1 Gaucher disease (GD I).DesignCost-effectiveness analysis was performed using a life-time state-transition model of the disease’s natural course. Transition probabilities, effectiveness data and costs were derived from retrospective data and prospective follow-up of the Dutch study cohort.SettingThe tertiary referral center for Gaucher disease in the Netherlands.ParticipantsThe Dutch cohort of patients with GD I.InterventionERT versus standard medical care without ERT in symptomatic patients.Main outcome measuresYears free of end organ damage (YFEOD) (splenectomy, bone complication, malignancy, multiple complications), quality adjusted life years (QALY), and costs.ResultsOver an 85 year lifetime, an untreated GD I patient will generate 48.9 YFEOD and 55.86 QALYs. Starting ERT in a symptomatic patient increases the YFEOD by 12.8 years, while the number of QALYs gained increases by 6.27. The average yearly ERT medication costs range between €124,000 and €258,000 per patient. The lifetime costs of ERT starting in the symptomatic stage are €5,716,473 against €171,780 without ERT, a difference of €5,544,693. Consequently, the extra costs per additional YFEOD or per additional QALY are €434,416 and €884,994 respectively. After discounting effects by 1.5% and costs by 4% and under a reasonable scenario of ERT unit cost reduction by 25%, these incremental cost-effectiveness ratios could decrease to €149,857 and €324,812 respectively.DiscussionERT is a highly potential drug for GD I with substantial health gains. The conservatively estimated incremental cost-effectiveness ratios are substantially lower than for Pompe and Fabry disease. We suggest that the high effectiveness has contributed importantly to acceptance of reimbursement of ERT for GD I. The present study may further support discussions on acceptable price limits for ultra-orphan products.
Highlights
Orphan or rare diseases are life threatening or chronically debilitating, complex conditions with a prevalence of < 5 per 10.000
Starting enzyme replacement therapy (ERT) in a symptomatic patient increases the Years free of end organ damage (YFEOD) by 12.8 years, while the number of quality adjusted life years (QALY) gained increases by 6.27
We suggest that the high effectiveness has contributed importantly to acceptance of reimbursement of ERT for Gaucher disease (GD) I
Summary
Orphan or rare diseases are life threatening or chronically debilitating, complex conditions with a prevalence of < 5 per 10.000. The interest of pharmaceutical companies in these disorders has grown, due to new legislation related to orphan drug development implemented in the US in 1983 and in Europe in 1999. New medications for orphan diseases, including many inherited metabolic disorders, have been developed. Clinical evaluation of newly developed products is Gaucher disease (GD; OMIM#230800), a very rare disorder with a prevalence of around 1 in 70.000, is a lysosomal storage disorder that results from defective activity of the lysosomal enzyme glucocerebrosidase (or acid van Dussen et al Orphanet Journal of Rare Diseases 2014, 9:51 http://www.ojrd.com/content/9/1/51 β-glucosidase, EC 3.2.1.45). Storage of glucocerebroside in macrophages gives rise to hepatosplenomegaly, severely debilitating bone disease and, in rare cases, central nervous system involvement [1]. Long term complications and associated conditions of GD I include splenectomy, persisting bone complications, pulmonary hypertension [3], Parkinson disease [4] and an increased risk of associated malignancies including multiple myeloma (MM) and hepatocellular carcinoma (HCC) [5,6]
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