Abstract
BackgroundPompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. Costs of ERT are very high as for most orphan drugs. This study investigates the cost-effectiveness of ERT compared to supportive treatment in adult patients with Pompe disease.MethodsSurvival probabilities were estimated from an international observational dataset (n = 283) using a time-dependent Cox model. Quality of life was estimated on a Dutch observational dataset using a previously developed conceptual model which links clinical factors to quality of life. Costs included costs of ERT, costs of drug administration and other healthcare costs. Cost-effectiveness was estimated using a patient-level simulation model (n = 90), synthesising the information from underlying models for survival, quality of life and costs. The cost-effectiveness model estimated the (difference in) lifetime effects and costs for both treatments. Two scenarios were modelled: (1) a worse case scenario with no extrapolation of the survival gain due to ERT beyond the observed period (i.e. from 10 years onwards); and (2) a best case scenario with lifetime extrapolation of the survival gain due to ERT. Effects were expressed in (quality adjusted) life years (QALYs). Costs were discounted at 4.0% and effects at 1.5%.ResultsSubstantial increases in survival were estimated – discounted incremental life years of ERT ranged from 1.9 years to 5.4 years in the scenarios without and with extrapolation of survival gains beyond the observed period. Quality of life was also significantly better for patients receiving ERT. Incremental costs were considerable and primarily consisted of the costs of ERT. Incremental costs per QALY were €3.2 million for scenario 1 and €1.8 million for scenario 2.ConclusionsThe availability of extended, prospectively collected, longitudinal observational data on the most important input parameters required to construct a cost-effectiveness model is quite exceptional for orphan diseases. The cost-effectiveness model showed substantial survival gains from ERT. Despite these substantial gains, ERT was not cost-effective in the treatment of adult Pompe disease because of the high cost of treatment.
Highlights
Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder
We examined, for the Dutch situation, the cost-effectiveness of Enzyme replacement therapy (ERT) compared to supportive treatment (ST) in adult patients with Pompe disease
Survival Survival probabilities were derived from an international dataset with observational data of patients with Pompe disease (the International Pompe Association (IPA)/ Erasmus MC Pompe Survey; n = 283), which started to collect data in 2002, 4 years before ERT received market authorization
Summary
Pompe disease is a rare, progressive, metabolic disease, and the first treatable inheritable muscle disorder. Enzyme replacement therapy (ERT) with alglucosidase alfa is disease specific and the only medicinal product authorized for the treatment of Pompe disease. This study investigates the cost-effectiveness of ERT compared to supportive treatment in adult patients with Pompe disease. Pompe disease (or glycogenosis type II) is a rare inheritable muscle disease that belongs to the glycogen and lysosomal storage disorders. It is caused by a deficiency of the enzyme acid α-glucosidase [1]. Compared to the general population, adults with Pompe disease experience a reduced life expectancy and quality of life [5,6,7]
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