LAUSR

Background: Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with the potential to slow down or stop disease progression with a potentially major impact on patients' well-being. Objective: This study evaluates quality of life (QoL) in pediatric and adult patients over the course of therapy with nusinersen. Methods: Twenty-six SMA patients treated with nusinersen were evaluated regarding global QoL (gQoL), health-related QoL (HRQoL) and depressiveness. Assessments were conducted three times over the first 6 months of treatment. Applied were different questionnaires: the Anamnestic Comparative Self-Assessment (ACSA) for gQoL, the Short Form-36 Health Survey (SF-36) for HRQoL in adult patients and the ALS Depression Inventory 12 Items (ADI-12) for depressiveness. The sample was matched with 22 healthy controls. Results: Despite severe physical restrictions, patients reported high levels of QoL and low levels of depressiveness at study entry. Early disease onset and low levels of physical functioning were associated with better gQoL and lower levels of depressiveness. A significant decrease of gQoL in patients was evident over the course of the study. Still, adult patients reported a significant increase in perceived health. Conclusions: Our study provides first insight that SMA patients experience a gQoL superior to healthy controls at start of therapy. This might indicate patients' high hopes and expectations toward treatment. gQoL returns to a level similar to that of healthy controls over the course of therapy.