Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH.
Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH; Departments of Pediatrics and Neurology, Ohio State University, Columbus, OH.
Semin Pediatr Neurol. 2021 Apr;37:100878. doi: 10.1016/j.spen.2021.100878. Epub 2021 Feb 11.
Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam. These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the management of spinal muscular atrophy. Ongoing efforts seek to optimize gene therapy vectors, explore new therapeutic targets beyond motor neurons, and evaluate the role of combination therapy.
脊髓性肌萎缩症是儿童期最常见的神经肌肉疾病之一，具有较高的发病率和死亡率。在过去的 4 年中，有 3 种不同的疾病修正治疗方法问世：nusinersen、onasemnogene abeparvovec 和 risdiplam。这些药物已被证明具有安全性和有效性，但它们的长期益处仍需进一步研究。新生儿筛查项目使早期诊断和治疗以及更好的结果成为可能，但呼吸护理和其他支持措施在脊髓性肌萎缩症的治疗中仍然起着关键作用。目前正在努力优化基因治疗载体，探索运动神经元以外的新治疗靶点，并评估联合治疗的作用。
