Impact of nusinersen on the health-related quality of life and caregiver burden in patients with Spinal Muscular Atrophy with symptom onset before age 6 months

초록

he impact of disease-modifying treatments for spinal muscular atrophy (SMA) has gained widespread attention especially from patients and their caregivers. This study aimed to evaluate the effects of nusinersen on the health-related quality of life (HRQoL), functional performance, and caregiver burden in patients with infantile-onset SMA. A 14-month observational study was conducted to evaluate changes in HRQoL and functional performance using the Pediatric Quality of Life Inventory Infant Scales (PedsQL Infant Scales) and the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). The Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) was used to analyze caregiver burden. Motor function was evaluated through the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), with an examination of the correlation between CHOP INTEND scores, functional performance, and caregiver burden. In this study, a total of eight patients with infantile-onset SMA and their caregivers were included. The median age at treatment initiation was 4.6 months (range: 1.1 to 15.1 months). Although there was a significant improvement in CHOP INTEND assessments, all total scores and subscores of the PedsQL Infant Scale decreased during treatment. Conversely, the PEDI-CAT demonstrated significant improvements in daily activities, mobility, and social-cognitive domains. Caregiver burden decreased across various dimensions, including improvements in feeding/grooming/dressing, sitting/play, transfer, mobility, emotion, and financial aspects, with the exception of time-related burden. Higher CHOP-INTEND scores correlated with improved scores in each PEDI-CAT domain and reduced caregiver burden in sitting/play and transfer activities. The study provides evidence of nusinersen's beneficial effects on functional performance and caregiver burden in patients with infantile-onset SMA. Also, the need for further research incorporating patient-reported outcome measures to fully capture the impact of treatment on SMA patients’ lives is also underscored.