PDF(Pubmed)
Abstract：
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes characterized by the gradual weakening and deterioration of muscles, often leading to substantial disability and premature mortality. Over the past decade, remarkable strides have been made in the field of SMA therapeutics, revolutionizing the landscape of patient care. One pivotal advancement is the development of gene-targeted therapies, such as nusinersen, onasemnogene abeparvovec and risdiplam which have demonstrated unprecedented efficacy in slowing disease progression. These therapies aim to address the root cause of SMA by targeting the survival motor neuron (SMN) gene, effectively restoring deficient SMN protein levels. The advent of these innovative approaches has transformed the prognosis for many SMA patients, offering a glimmer of hope where there was once limited therapeutic recourse. Furthermore, the emergence of small molecule compounds and RNA-targeting strategies has expanded the therapeutic arsenal against SMA. These novel interventions exhibit diverse mechanisms of action, including SMN protein stabilization and modulation of RNA splicing, showcasing the multifaceted nature of SMA treatment research. Collective efforts of pharmaceutical industries, research centers, and patient advocacy groups have played an important role in expediting the translation of scientific discoveries into visible clinical benefits. This review not only highlights the remarkable progress achieved in SMA therapeutics but also generates the ray of hope for the ongoing efforts required to enhance accessibility, optimize treatment strategies, rehabilitation (care and therapies) and ultimately pave the way for an improved quality of life for individuals affected by SMA.
摘要：
脊髓性肌萎缩症（SMA）是一种罕见的疾病，与以肌肉逐渐减弱和退化为特征的基因相关，往往导致严重残疾和过早死亡。在过去的十年里，SMA治疗领域取得了显著进展，彻底改变了患者护理领域。一个关键的进步是基因靶向疗法的发展，比如Nusinersen,在减缓疾病进展方面表现出前所未有的疗效。这些疗法旨在通过靶向存活运动神经元（SMN）基因来解决SMA的根本原因，有效恢复缺乏的SMN蛋白水平。这些创新方法的出现改变了许多SMA患者的预后，在曾经有限的治疗手段的地方提供一线希望。此外，小分子化合物和RNA靶向策略的出现扩大了针对SMA的治疗范围.这些新颖的干预措施表现出不同的作用机制，包括SMN蛋白稳定和RNA剪接的调节，展示了SMA治疗研究的多面性。制药业的集体努力，研究中心,和患者倡导团体在加快将科学发现转化为可见的临床益处方面发挥了重要作用。这篇综述不仅突出了SMA疗法取得的显著进展，而且为增强可及性所需的持续努力带来了希望。优化治疗策略，康复（护理和治疗），并最终为改善受SMA影响的个人的生活质量铺平道路。
