A research team from Essen University Hospital in Germany underscored the need for developing novel disease-specific questionnaires to evaluate the impact of nusinersen treatment on the quality of life of adult patients with spinal muscular atrophy (SMA).
The warning followed the observation that nusinersen treatment did not improve the reported health-related quality of life of adults with SMA, despite significant motor improvement, when assessed using the Quality of Life in Neurological Disorders (Neuro-QoL) short forms for upper/lower extremity function.
“At baseline, Neuro-QoL scores strongly correlated with motor function scores (Hammersmith Functional Motor Scale Expanded, HFMSE; Revised Upper Limb Module, RULM), but [quality of life scores] did not increase significantly during the 14-month treatment period despite significant motor improvement as measured by HFMSE,” the researchers wrote in the pilot study published in Frontiers in Neurology.
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The increase in mean HFMSE scores was 2.867 ± 0.867 (P =.0488). However, neither RULM nor mean assessed quality of life scores showed a significant improvement during the 14 months of nusinersen treatment.
Moreover, the strong correlation observed at baseline between motor function scores (HFMSE/RULM) and Neuro-QOL for upper and lower extremity function was not observed during the treatment period.
The absence of improvement as measured by Neuro-QoL scores was noted in both ambulatory (n=5) and nonambulatory (n=11) patients with SMA.
The researchers said the data is “contrary to recent studies reporting high satisfaction of patients under nusinersen treatment, especially regarding its effectiveness and at least transiently reduced fatigue.”
“Moreover, treatment adherence is generally high in this patient cohort despite the obvious burden of intrathecal treatment,” they noted.
The study enrolled 17 adults with genetically confirmed SMA type 2 (23.5%) or type 3 (76.5%). Patients were prospectively assessed prior to initiation of nusinersen treatment and 2, 6, 10, and 14 months after treatment initiation using Neuro-QoL. Neuro-QoL is a patient-reported outcome measurement system.
“Disease-specific questionnaires should be used to re-evaluate the impact of nusinersen treatment on [quality of life in future studies,” the study authors concluded.
Thimm A, Brakemeier S, Kizina K, et al. Assessment of health-related quality of life in adult spinal muscular atrophy under nusinersen treatment—a pilot study. Front Neurol. 2022;12. doi:10.3389/fneur.2021.812063