Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment-A Pilot Study

Abstract

5q-Spinal muscular atrophy (SMA) is a severely disabling inherited neuromuscular disease that progressively reduces the motor abilities of affected individuals. The approval of the antisense oligonucleotide nusinersen, which has been shown to improve motor function in adult SMA patients, changed the treatment landscape. However, little is known about its impact on patients' quality of life (QoL), and there is still a need for adequate patient-reported outcome measures. In this study, we used the short form of the Neuro-QoL (Quality of Life in Neurological Disorders) for upper/lower extremity function to prospectively assess the health-related QoL of 17 adult SMA patients prior to initiation of nusinersen treatment and 2, 6, 10, and 14 months afterwards. At baseline, Neuro-QoL scores strongly correlated with motor function scores (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb Module, RULM), but QoL did not increase significantly during the 14-month treatment period despite significant motor improvement as measured by HFMSE. Our results underline the need for novel, disease-specific assessments of QoL in SMA.

Keywords: HFMSE; Neuro-QoL; RULM; antisense oligonucleotide; nusinersen; spinal muscular atrophy.

Figure 1

Motor function under nusinersen treatment. Mean HFMSE (left panel) and mean RULM scores (right panel) prior to (baseline) and 2–14 months after initiation of nusinersen treatment. MEAN ± SEM, *P < 0.05.

Figure 2

Quality of life measured by Neuro-QoL for upper extremity function under nusinersen treatment. Mean Neuro-QoL for upper extremity function (± SEM) during the 14-month treatment period (A) and distribution of differences in Neuro-QoL for upper extremity function from baseline 2 (B), 6 (C), 10 (D), and 14 months (E) after treatment initiation. Each bar represents the percentage of patients who had improved/deteriorated to this extent.

Figure 3

Quality of life measured by Neuro-QoL for lower extremity function under nusinersen treatment. Mean Neuro-QoL for lower extremity function (+SEM) during the 14-month treatment period (A) and distribution of differences in Neuro-QoL for lower extremity function from baseline 2 (B), 6 (C), 10 (D), and 14 months (E) after treatment initiation. Each bar represents the percentage of patients who had improved/deteriorated to this extent.

Figure 4

Correlatio of motor function scores and Neuro-QoL for upper/lower extremity function at baseline. HFMSE score vs. Neuro-QoL for upper extremity function (A), HFMSE score vs. Neuro-QoL for lower extremity function (B), RULM score vs. Neuro-QoL for upper extremity function (C), RULM score vs. Neuro-QoL for lower extremity function (D).

Figure 5

Correlation of differences in motor function scores compared to baseline (dHFMSE, dRULM) and differences in Neuro-QoL compared to baseline (dNeuro-QoL) after 14 months of treatment. dHFMSE vs. dNeuro-QoL for upper extremity function (A), dHFMSE vs. dNeuro-QoL for lower extremity function (B), dRULM vs. dNeuro-QoL for upper extremity function (C), and dRULM vs. dNeuro-QoL for lower extremity function (D).