Cost-Effectiveness of Newborn Screening for Infantile-Onset Pompe Disease in Japan.

The analytical model combined a decision tree and a Markov model.

The incremental cost-effectiveness ratio (incremental cost-effectiveness ratio) was estimated over a lifetime horizon, applying a 2% annual discount rate from the public healthcare payer's perspective.

The cumulative quality-adjusted life years (quality-adjusted life years) gained per patient were estimated to be 7.9 when clinically diagnosed and treated with enzyme replacement therapy, and 28.9 when identified through universal newborn screening.