Ryan Monique M
Children's Neurosciences Centre, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Arch Dis Child. 2022 May;107(5):421-426. doi: 10.1136/archdischild-2020-320908. Epub 2021 Aug 30.
Most childhood neuromuscular disorders are caused by mutations causing abnormal expression or regulation of single genes or genetic pathways. The potential for gene therapy, gene editing and genetic therapies to ameliorate the course of these conditions is extraordinarily exciting, but there are significant challenges associated with their use, particularly with respect to safety, efficacy, cost and equity. Engagement with these novel technologies mandates careful assessment of the benefits and burdens of treatment for the patient, their family and their society. The examples provided by spinal muscular atrophy and Duchenne muscular dystrophy illustrate the potential value and challenges of gene and genetic therapies for paediatric neurological conditions. The cost and complexity of administration of these agents is a challenge for all countries. Jurisdictional variations in availability of newborn screening, genetic diagnostics, drug approval and reimbursement pathways, treatment and rehabilitation will affect equity of access, nationally and internationally. These challenges will best be addressed by collaboration by governments, pharma, clinicians and patient groups to establish frameworks for safe and cost-effective use of these exciting new therapies.
大多数儿童神经肌肉疾病是由导致单个基因或遗传途径异常表达或调控的突变引起的。基因治疗、基因编辑和遗传疗法改善这些疾病病程的潜力令人无比兴奋，但在使用这些疗法时存在重大挑战，尤其是在安全性、有效性、成本和公平性方面。采用这些新技术需要仔细评估对患者及其家庭和社会的治疗益处和负担。脊髓性肌萎缩症和杜氏肌营养不良症所提供的例子说明了基因和遗传疗法对儿科神经系统疾病的潜在价值和挑战。这些药物的给药成本和复杂性对所有国家来说都是一项挑战。新生儿筛查、基因诊断、药物批准和报销途径、治疗和康复在不同司法管辖区的可及性差异将影响国内和国际上的获取公平性。政府、制药公司、临床医生和患者团体合作建立安全且具成本效益地使用这些令人兴奋的新疗法的框架，将能最好地应对这些挑战。
