Pompe disease (PD) — a rare disease with progressive muscles weakness, cardiac and pulmonary insuffi ciency and others vital life-threatening symptoms without enzyme replacement therapy (ERT). Treatment of PD is very expensive and data
about social-economic burden of PD in the Russian Federation is absent yet. Analysis of direct costs (cost of ERT, laboratory and others tests, cost of medical devisees etc.) and non-direct costs (personal income losses due to temporary or permanent disability or necessity of care for a sick child, GDP losses etc.) have been calculated for PD with late onset. Direct medical cost in case of
alglucosidase alfa use was less on 11.4 % vs standard therapy for PD onset in childhood as well as non-direct non-medical cost on above 40 % less for one year horizon of modelling. Alglucosidase alfa has high effi cacy for PD treatment for patients with late onset treatment in adult age, but more costly vs standard therapy — 44.1 mln. RUR / patient / year. Expenditures for PD complications were in 2 times less in case of alglucosidase alfa usage. Cornerstone of expenditures in alglucosidase alfa group are cost of ERT, in the same time in standard treatment group — cost of PD complications, treatment of terminal phase and death.
ERT could be extended to 16.4 % due to resource-saving eff ects of the use of alglucosidase alfa. Calculated socio-economic burden of PD has shown that, it seems appropriate to transfer funding for its treatment to the Federal level.