Moultrie Fiona, Chiverton Laura, Hatami Isabel, Lilien Charlotte, Servais Laurent
MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK; NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK.
MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK; NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK.
Trends Mol Med. 2025 Apr;31(4):307-318. doi: 10.1016/j.molmed.2024.12.006. Epub 2025 Jan 9.
Spinal muscular atrophy (SMA) is a devastating, degenerative, paediatric neuromuscular disease which until recently was untreatable. Discovery of the responsible gene 30 years ago heralded a new age of pioneering therapeutic developments. Three disease-modifying therapies (DMTs) have received regulatory approval and have transformed the disease, reducing disability and prolonging patient survival. These therapies - with distinct mechanisms, routes of administration, dosing schedules, side effect profiles, and financial costs - have dramatically altered the clinical phenotypes of this condition and have presented fresh challenges for patient care. In this review article we discuss potential strategies to maximise clinical outcomes through early diagnosis and treatment, optimised dosing, use of therapeutic combinations and state-of-the-art physiotherapy techniques, and the development of innovative therapies targeting alternative mechanisms.
脊髓性肌萎缩症（SMA）是一种严重的、退行性的儿科神经肌肉疾病，直到最近仍无法治疗。30年前致病基因的发现开创了治疗发展的新纪元。三种疾病修饰疗法（DMTs）已获得监管批准，并改变了这种疾病，减少了残疾并延长了患者生存期。这些疗法具有不同的作用机制、给药途径、给药方案、副作用特征和经济成本，极大地改变了这种疾病的临床表型，并给患者护理带来了新的挑战。在这篇综述文章中，我们讨论了通过早期诊断和治疗、优化给药、使用联合治疗和先进的物理治疗技术来最大化临床疗效的潜在策略，以及针对替代机制的创新疗法的开发。
