Abstract：
OBJECTIVE: Spinal muscular atrophy (SMA) manifests with progressive motor neuron degeneration, leading to muscle weakness. Onasemnogene abeparvovec is a US Food and Drug Administration-approved gene replacement therapy for SMA. This study aimed to present short-term data of children in the United Arab Emirates (UAE) treated with onasemnogene abeparvovec, particularly in the context of children requiring invasive ventilatory support via tracheostomy.
METHODS: A retrospective analysis was performed on 60 children who received onasemnogene abeparvovec. All these children received corticosteroids. They were followed up for up to 3 months. Motor function assessments were performed before and after the gene therapy. Comprehensive clinical evaluations, including pulmonary functions, were performed at baseline and the 3-month mark.
RESULTS: Forty-three percent were male, and the mean age at the time of infusion was 29.6 months (SD ± 17.2). The mean weight was 10.1 kg (SD 2.6). All children demonstrated marked improvements in motor function within 3 months of gene therapy administration. No adverse effects attributable to corticosteroid therapy were observed. Positive clinical outcomes, including increased ventilator-free intervals, reduced antibiotic dependency, and fewer hospital admissions, were reported among children with invasive ventilation via tracheostomy.
CONCLUSIONS: This study demonstrates the favorable tolerability and promising responses to onasemnogene abeparvovec in invasively ventilated pediatric patients. Early improvements in motor function, as observed within 3 months post-treatment, suggest its potential as a viable therapeutic option for this vulnerable patient population.
METHODS: A retrospective analysis was performed on 60 children who received onasemnogene abeparvovec. All these children received corticosteroids. They were followed up for up to 3 months. Motor function assessments were performed before and after the gene therapy. Comprehensive clinical evaluations, including pulmonary functions, were performed at baseline and the 3-month mark.
RESULTS: Forty-three percent were male, and the mean age at the time of infusion was 29.6 months (SD ± 17.2). The mean weight was 10.1 kg (SD 2.6). All children demonstrated marked improvements in motor function within 3 months of gene therapy administration. No adverse effects attributable to corticosteroid therapy were observed. Positive clinical outcomes, including increased ventilator-free intervals, reduced antibiotic dependency, and fewer hospital admissions, were reported among children with invasive ventilation via tracheostomy.
CONCLUSIONS: This study demonstrates the favorable tolerability and promising responses to onasemnogene abeparvovec in invasively ventilated pediatric patients. Early improvements in motor function, as observed within 3 months post-treatment, suggest its potential as a viable therapeutic option for this vulnerable patient population.
摘要：
目的：脊髓性肌萎缩（SMA）表现为进行性运动神经元变性，导致肌肉无力.Onasemnogeneabeparvovec是美国食品和药物管理局批准的SMA基因替代疗法。这项研究旨在提供阿拉伯联合酋长国（UAE）接受asemnogeneabeparvovec治疗的儿童的短期数据，特别是在需要通过气管造口术进行有创通气支持的儿童的情况下。
方法：回顾性分析了60例接受asemnogeneabeparvovec治疗的儿童。所有这些孩子都接受了皮质类固醇。随访时间长达3个月。在基因治疗前后进行运动功能评估。综合临床评价,包括肺功能,在基线和3个月标记进行。
结果：43%是男性，输液时的平均年龄为29.6个月(SD±17.2)。平均体重为10.1kg(SD2.6)。所有儿童在基因治疗后3个月内表现出明显的运动功能改善。未观察到可归因于皮质类固醇治疗的不良反应。积极的临床结果，包括增加无呼吸机间隔，减少对抗生素的依赖，住院人数减少，在通过气管造口术进行有创通气的儿童中报告。
结论：这项研究表明，在有创通气的儿科患者中，对asemnogeneabeparvovec具有良好的耐受性和有希望的反应。运动功能的早期改进，治疗后3个月内观察到，建议其作为这种脆弱患者人群的可行治疗选择的潜力。
方法：回顾性分析了60例接受asemnogeneabeparvovec治疗的儿童。所有这些孩子都接受了皮质类固醇。随访时间长达3个月。在基因治疗前后进行运动功能评估。综合临床评价,包括肺功能,在基线和3个月标记进行。
结果：43%是男性，输液时的平均年龄为29.6个月(SD±17.2)。平均体重为10.1kg(SD2.6)。所有儿童在基因治疗后3个月内表现出明显的运动功能改善。未观察到可归因于皮质类固醇治疗的不良反应。积极的临床结果，包括增加无呼吸机间隔，减少对抗生素的依赖，住院人数减少，在通过气管造口术进行有创通气的儿童中报告。
结论：这项研究表明，在有创通气的儿科患者中，对asemnogeneabeparvovec具有良好的耐受性和有希望的反应。运动功能的早期改进，治疗后3个月内观察到，建议其作为这种脆弱患者人群的可行治疗选择的潜力。
