OBJECTIVES : The objective of this study was to conduct a study on the Italian territory to estimate the indirect and direct non-health costs associated with Spinal Muscular Atrophy (SMA), an autosomal recessive genetic disease that burdens the daily life of children, adults and their caregivers.

METHODS : In order to develop the economic model, a survey has been administered to patients already part of national families associations and to clinical experts. Finally, all the data were analysed using the economic model in order to estimate the average costs per patient. The questionnaire was able to identify a sample of 73 patients affected by SMA (13,70% SMA I, 49.32% SMA II, 32,88% SMA III and 1,37% SMA IV or SMA 0). Data have been collected from January to March 2021. The average age of the patients was 30,19 with more males (53,42%) in the total respondents. Direct healthcare costs were estimated using national tariffs, and Italian DRG. Social costs were estimated using the human capital approach. The economic analysis estimates also the average out of pocket expenses.

RESULTS : The economic model estimated an average annual cost per patient with SMA of €20.825,07 (€36.151,84 for SMA I, €18.740,08 for SMA II and €13.233,84 for SMA III) excluding drug-related therapies for SMA (e.g. nusinersen). Of these costs, about 46% were attributable to indirect costs associated with patients and caregivers, the 34% were attributable to direct healthcare costs and approximately 20% to out-of-pocket expenses. Orthoses and devices, rehabilitation and hospitalizations are the three most relevant cost drivers as regards direct costs.

CONCLUSIONS : This study highlights the need for specific policies to support patients and their families who must live with the disease, not only from the standpoint of their compromised quality of life but also due to the significant economic burden imposed by the disease.