Social/ economic burden and health-related quality of life in patients with Spinal Muscular Atrophy (SMA) in Greece

Abstract

Objective: The objective of this study was to determine the economic burden and health-related quality of life (HRQoL) of patients with SMA and their caregivers in Greece, which is still unknown, and explore the economic impact of the implementation of a reproductive carrier screening (RCS) program. Methods: A cross-sectional study was conducted in which an online questionnaire was completed by caregivers of SMA patients. A cost of illness (COI) model was developed in which costs per patient were calculated from a societal perspective and extrapolated to the Greek SMA population. Parents’/caregivers’ HRQoL was measured using the 36-item PedsQL™ Family Impact Module. Resources for the implementation of RCS program were estimated and its short-term impact was assessed. Results: The COI was estimated at €261,785 per patient in 2022. When extrapolating this across all affected persons, the average annual cost ranged from €49,739,395 to €91,036,017 depending on the prevalence considered. Out-of-pocket expenses accounted for 8% of the total. Results of the analysis on HRQoL indicated a high burden on parents/ caregivers with the majority of scores falling below 50 and a mean total score of 45. Depending on the scenario used, an RCS program could save the Greek healthcare system at least €167,181 or increase its costs by €564,804. Conclusions: SMA imposes a significant economic burden in affected patients, caregivers, and health care system. The cost-saving magnitude of a potential implementation of a CRS program is dependent on the parents' reproductive choices following a positive screening result.