OBJECTIVES: Pompe disease (PD) is a rare autosomal metabolic disorder that occurs due to α-glucosidase deficiency, an enzyme responsible for glycogen breakdown. This systematic literature review identifies and summarizes model-based economic evaluations and budget impact analyses of enzyme replacement therapies (ERTs) in patients with PD.

METHODS: PubMed^® and Embase^® were systematically searched, as per Preferred Reporting Items for Systemic Reviews and Meta-Analyses guidelines, by combining relevant keywords to identify economic evaluation studies. Electronic searches were supplemented by bibliographic searches.

RESULTS: Of 514 records identified, eight studies were included, two of which were conducted in the Netherlands, and a study each in the US, England/Colombia, Scotland, Canada, Iran and Taiwan. In the Netherlands, cost-effectiveness analyses among infantile-onset PD (IOPD) and adult patients with PD estimated an incremental cost-effectiveness ratio (ICER) of €1.0 million (cost year: 2009) and €3.2 million (cost year: 2014) per quality-adjusted life year (QALY) gained, respectively, with ERT compared with supportive therapy, owing primarily to the high drug cost. The ICER per QALY remained very high for ERT compared with no ERT in high-income countries like England (£234,308; cost year: 2010) and middle-income countries like Colombia (£109,991; cost year: 2010) in patients with IOPD. ERT was also not considered cost-effective in Iran, and the Scottish Medicines Consortium reiterated that an extremely high cost for health gain is associated with ERT. Among ERTs, avalglucosidase alfa resulted in savings of CAD27,292 per patient per year compared with alglucosidase alfa in Canada. The gross drug budget impact of alglucosidase alfa in infants was estimated, by manufacturer, to be £167,000 in Year 1 and £210,000 in Year 5 in Scotland.

CONCLUSIONS: This review suggests ERT may provide substantial benefits in terms of life expectancy but at higher incremental costs, impacting its cost-effectiveness. Therefore, exploring more cost-effective treatment options is warranted.