Health-Related Quality of Life for Disease-Modifying Therapies Among Patients With Spinal Muscular Atrophy in Taiwan

OBJECTIVES: Spinal muscular atrophy (SMA) is the most common hereditary disease caused by an autosomal recessive neuromuscular disorder, and it imposes a significant economic burden on patients, caregivers, and the health system. The objective of this study is to assess and compare the health-related quality of life (HRQoL) among SMA patients with and without receiving disease-modifying therapies (DMTs).

METHODS: We conducted a prospective survey study and recruited patients diagnosed with SMA at Kaohsiung Medical University Hospital, a medical center in southern Taiwan, from February 2023 to January 2024. Several instruments for measuring HRQoL were employed, including European Quality of Life 5 Dimensions Youth 3 Level (EQ-5D-Y-3L), European Quality of Life 5 Dimensions 3 Level (EQ-5D-3L), and visual analog scale (VAS). Chart reviews were further collected for the patient’s baseline characteristics, such as SMA type, motor function, and DMT treatment options (i.e., nusinersen, onasemnogene abeparvovec, and risdiplam). Descriptive and multivariable regression models were analyzed.

RESULTS: 63 SMA patients participated and signed informed consent, with 39 patients undergoing DMT treatment and 24 receiving standard of care (SOC). The average utility and VAS scores for child patients receiving DMT (0.62, 83) were 1.1 and 1.2 times better than those for SOC (0.56, 72), respectively. For adult patients, the average utility and VAS score on DMT (0.60, 72) were 1.1 times higher than those for SOC (0.57, 68), respectively.

CONCLUSIONS: The results of this study indicate that DMT intervention improves the quality of life for SMA patients in comparison to the standard of care. The type of SMA, motor function, and treatment approach have a notable influence on HRQoL.