The Socio-Economic Burden of Spinal Muscular Atrophy: A Cost-of-Illness Study in Bulgaria

<b>Background/Objectives</b>: The objective of our study was to quantify the annual costs, from a societal perspective, encompassing direct health care costs, direct non-health care costs, and labor productivity losses associated with spinal muscular atrophy (SMA) patients in Bulgaria and their caregivers. <b>Methods</b>: We applied a prevalence-based, bottom-up costing methodology to assess the socio-economic burden of SMA from a societal perspective. We evaluated and summed up all costs for health services (diagnosis, treatment, follow-up, and rehabilitation), educational and social services, and formal and informal care in the community, as well as indirect costs due to the loss of productivity and work capacity of the SMA patients' caregivers. <b>Results</b>: Nine parents of SMA patients provided consent and completed the study's questionnaire. Two children had SMA type III, and seven had SMA type II. The median annual socio-economic burden per SMA patient was EUR 254,968.80. The high direct costs, primarily driven by drug expenses, and the substantial indirect costs resulting from the loss of productivity among informal caregivers were the primary causes. We found no utilization of social care and educational services. <b>Conclusions</b>: We emphasize the need for careful consideration of long-term outcomes, real-world data collection, and performance-based reimbursement. An ideal scenario could achieve these objectives in synergy. A second layer of policy actions and measures must address the unmet needs of SMA patients and their families using a holistic approach. The indirect costs associated with SMA, particularly the productivity loss of informal caregivers, underscore the need for comprehensive support programs.