Clinical-economic evaluation of a screening for Pompe disease in children in the local conditions

Abstract

Pompe disease with late onset (PDLO) can’t be diagnosed in time due to common symptoms with several neuro-muscular diseases. Screening and diagnostic measures could lead to efficacy enzyme replaced therapy (ERT) with alglucosidase alfa with aim of severe complications prediction. Screening has a nominal cost, so evaluation of it’s clinical-economic reason to use is important, especially in the local conditions. Materials and methods. Dynamic of expenditures for PDLO in case of screening in kids from risks groups has been performed, including treatment with alglucosidase on time in 12-months horizon — cost of illness. Direct and non-direct costs were calculated in case of diagnostic on time and for non-diagnosed patients, cost-effective ratios were calculated and compared in both cases. Results. The analysis showed a 10 % reduction in the total cost per year with 50 % coverage of children at risk group and 18 % (837 mln RUR) — in case of 100 %-coverage with screening on PDLO. These changes in costs are associated with a significant reduction in the burden on outpatient and inpatient care units. Cost-effective ratio in case of early treatment with alglucosidase alfa was less than in non-diagnosed group on 18,1 %. ERT had main cost in diagnosed group, and costs of complications and disability were main in nondiagnosed group. Conclusion: Health Care system expenditures are expecting less in case of screening on PDLO in risks groups.