Health-related quality of life in patients with spinal muscular atrophy receiving nusinersen and their caregivers: a cross-sectional study

Spinal muscular atrophy (SMA) is a rare neuromuscular disorder characterized by progressive motor decline. Although nusinersen has improved survival and motor outcomes, patients and caregivers continue to face substantial medical and psychosocial challenges. As treatment goals have expanded beyond survival to include health-related quality of life (HRQoL), understanding relationship between patient and caregiver has become increasingly important. In this cross-sectional study, we evaluated 36 patients with SMA receiving nusinersen and their 32 caregivers at a tertiary hospital. Patient HRQoL was assessed using the EQ-5D-5 L and PedsQL-NMM, while caregiver HRQoL was measured using the EQ-5D-5 L, CarerQoL-7D, and CarerQoL-VAS. Spearman’s rank correlation coefficients were used to examine associations between patient and caregiver HRQoL. Patients showed substantial impairment (mean EQ-5D-5 L utility 0.30; PedsQL-NMM 57.7), while caregiver reported relatively high overall HRQoL (mean CarerQoL-7D 68.4). Moderate positive correlations were observed between patient and caregiver HRQoL across multiple measures (e.g., PedsQL-NMM vs. CarerQoL-7D: rₛ=0.46). Correlations were generally stronger in sitters than in non-sitters. The observed associations between patient and caregiver HRQoL highlight the importance of considering caregiver perspectives in SMA management and resource planning. Stronger correlations in sitters may be related to closer daily interactions between patients and caregivers; however, further investigation is needed to clarify underlying mechanisms.