OBJECTIVES

Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous inherited orphan diseases leading to progressive spinal motoneurons degeneration and loss of function. There are 4 types of SMA from which type I is the most severe. SMA patients are need during the whole life in lots of services (medical, social etc.) and the cost of the care has never been calculated in Russia before.

METHODS

The aim of the study was to calculate SMA burden in Russia. Data from national SMA patients register, insurance medical companies, epidemiological and rehabilitation care data were compiled into the model. We accounted for direct medical (diagnostics, drugs, surgery, orthopedics, rehabilitation and family) and nonmedical expenditures along with indirect (loss of GDP) costs. Characteristics of patient’s population have been taken form national SMA register. The sources of costs data were: governmental healthcare and insurance companies’ tariffs, price lists of commercial companies, clinics and laboratory services. Modelling time horizon was 5 years. The two following calculation scenarios were evaluated: 1) all patients with SMA receive pathogenetic therapy 2) the share of pathogenetic therapy is stable during the horizon at the current level.

RESULTS

National SMA register contains the information about 913 patients, from which 21% has SMA I type. Based on sales data we calculated the number of patients receiving pathogenic therapy – 85 patients. In the first scenario total burden of SMA in Russia is 25,6 billion RUR/year (28 million RUR/patient/year). SMA type I burden is 3,7 billion RUR/year (19,4 million RUR/patient/year). Others SMA types burden is 21,9 billion RUR/year. Direct medical and non-medical costs, indirect costs were 97%, 1% and 2%, consequently. In the second scenario the total SMA burden was 3,3 billion RUR/year, the cost structure was the same.

CONCLUSIONS

In SMA burden the main are direct medical costs with the leading cost of pathogenic therapy.