Thimm Andreas, Brakemeier Svenja, Kizina Kathrin, Munoz Rosales Juan, Stolte Benjamin, Totzeck Andreas, Deuschl Cornelius, Kleinschnitz Christoph, Hagenacker Tim
Department of Neurology and Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Essen, Germany.
Institute for Diagnostic and Interventional Radiology and Neuroradiology, University Hospital Essen, Essen, Germany.
Front Neurol. 2022 Jan 24;12:812063. doi: 10.3389/fneur.2021.812063. eCollection 2021.
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.
5q型脊髓性肌萎缩症（SMA）是一种严重致残的遗传性神经肌肉疾病，会逐渐降低患者的运动能力。反义寡核苷酸药物诺西那生已获批，且已证明其可改善成年SMA患者的运动功能，这改变了治疗格局。然而，对于其对患者生活质量（QoL）的影响知之甚少，仍需要足够的患者报告结局指标。在本研究中，我们使用神经疾病生活质量量表（Neuro-QoL）上肢/下肢功能简表，对17例成年SMA患者在开始诺西那生治疗前以及治疗后2、6、10和14个月的健康相关生活质量进行前瞻性评估。在基线时，Neuro-QoL评分与运动功能评分（哈默史密斯功能运动量表扩展版，HFMSE；修订上肢模块，RULM）密切相关，但尽管通过HFMSE测量显示运动功能有显著改善，但在14个月的治疗期间生活质量并未显著提高。我们的结果强调了对SMA患者进行新型、疾病特异性生活质量评估的必要性。
