Health and Economic Outcomes of Newborn Screening for Infantile-onset Pompe Disease

Pompe disease is a rare condition that is identified in about 1 in 40,000 births. It occurs from a defect in the GAA gene leading to the accumulation of lysosomal glycogen and, depending on the form and severity, can result in cardiomyopathy, progressive muscle weakness, respiratory failure, and heart failure. Pompe disease can be treated with alglucosidase alfa, an enzyme replacement therapy (ERT) that costs between $250,000 and $500,000 per year for biweekly infusions.

The purpose of this study was to evaluate the cost-effectiveness of universal NBS for infantile-onset Pompe disease compared with usual clinical identification.

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•  Health and economic outcomes of newborn screening for infantile-onset Pompe disease (PDF, 520.4 KB).

Citation: Richardson, J.S., Kemper, A.R., Grosse, S.D. et al. Health and economic outcomes of newborn screening for infantile-onset Pompe disease. Genetics in Medicine (2020). https://doi.org/10.1038/s41436-020-01038-0.