罕见病脊髓性肌萎缩症治疗新药利司扑兰的临床药理与应用

Clinical pharmacology and application of new drug risdiplam for the treatment of rare disease spinal muscular atrophy

脊髓性肌萎缩症(SMA)是一种主要发生在婴幼儿时期的致残致死的罕见神经肌肉疾病,目前治疗仍是个难题。2021年6月,全球首个治疗SMA口服药物利司扑兰(Risdiplam)经国家药监局批准上市,它是一种小分子运动神经元2(SMN2)前体mRNA剪接修饰剂,通过提高患者体内的功能SMN蛋白水平达到治疗脊髓性肌萎缩症的作用,适用于治疗2月龄及以上患者的脊髓性肌萎缩症。本文主要针对新药利司扑兰的作用机制、药理学、安全性和经济性以及临床应用开展简要的介绍。

Spinal muscular atrophy(SMA) is a rare neuromuscular disease that mainly occurs in infants and young children, often leading to loss of exercise capacity, disability and even death in children. At present, its treatment is still a difficult problem. In June 2021, the world’s first oral drug for the treatment of SMA, risdiplam, was approved by the National Food and Drug Administration. It is a small-molecule survival motor neuron 2(SMN2) precursor mRNA splicing modifier, which can treat spinal muscular atrophy by increasing the functional SMN protein level in the patient’s body. It is indicated for the treatment of SMA in patients 2 months of age and older. This article mainly focuses on the mechanism of action, pharmacology, safety and economy, and clinical application of risdiplam.