Nusinersen was the first disease-modifying drug approved in 2016 for the treatment of SMA. Several studies have shown an improvement in motor scores following administration of Nusinersen. However, there are only a few, which have looked at Quality of Life (QOL) in patients treated with Nusinersen.
An IRB-approved prospective longitudinal study with retrospective chart review was completed on all SMA patients who received their first dose of Nusinersen before October 2019. QOL was assessed with Pediatric Quality of Life Inventory 3.0 Neuromuscular Measurement Model. Two QOL measurements were obtained, one on the day of consent (QOL1) and the second (QOL2), 6 months later. This data was compared with pre-treatment QOL scores obtained from Iannaccone et al in 2009, as pre-treatment QOL scores for our patients were not obtained. Pre-treatment neurological scores, lung function tests and number of hospitalizations, a year prior to the treatment was compared to the same variables after a year of treatment with Nusinersen.
Out of 34 patients, 24 consented to take part in the study. Mean values of Parent proxy report for Total Neuromuscular score, About my child’s neuromuscular disease, Communication and About our family resources for QOL1 was 62.67, 59.77, 77.39 and 64.70, and, for QOL2 was 63.47, 61.32, 76.47 and 63.33, respectively. Mean values for Child self-report for QOL 1 was 70.53, 68.69, 81.47, and 70.14, and, for QOL2 was 71.69, 68.33, 89.43 and 72.33, respectively. QOL1 score when compared with mean scores from Iannaccone et al, 2009, and QOL 2 compared with QOL1, did not show any statistically significant difference, except, in Child self-report communication score. Mean values of Neurological examination before and after Nusinersen was 22.18 and 27.54, respectively (p- value – <0.0001); mean values of best percent predicted FVC before and after Nusinersen was 78.6 and 76.6, respectively (p- value 0.5); mean values of best Peak cough flow (L/minute) before and after Nusinersen was 305.2 and 329.2, respectively (p- value 0.24); mean values of maximum inspiratory pressure (negative cmH2O) before and after Nusinersen was 50.6 and 55, respectively (p value – 0.17); and, mean number of hospitalizations before and after Nusinersen was 0.17 and 0.43, respectively (p value – 0.9).
Despite improvement in neurological scores, quality of life scores did not significantly improve.