Abstract：
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with progressive muscle atrophy and weakness, caused by biallelic mutations in the survival motor neuron 1 (SNM1) gene. Onasemnogene abeparvovec (OA) is an approved gene replacement therapy for patients with SMA. We report on two patients with SMA type 1, weighing 20 kg, previously treated with Nusinersen, who received OA infusion at 7 years of age. To our knowledge, these two patients are the heaviest treated in the real-world and we describe their different courses after gene therapy, including liver impairment requiring long-term steroid treatment and additional immunosuppression, with only transitory improvement in functional outcomes. Our cases illustrate how careful risk-benefit consideration is required in treating older and heavier SMA patients with OA, especially in view of the multiple treatment choices available for older patients with SMA.
摘要：
脊髓性肌萎缩症（SMA）是一种常染色体隐性遗传疾病，伴有进行性肌肉萎缩和无力，由存活运动神经元1（SNM1）基因的双等位基因突变引起。Onasemnogeneabeparvovec（OA）是一种经批准的SMA患者的基因替代疗法。我们报告了两名SMA1型患者，体重20公斤，之前用Nusinersen治疗过,7岁时接受OA输注的患者。据我们所知,这两名患者是现实世界中治疗最重的患者，我们描述了他们在基因治疗后的不同疗程，包括需要长期类固醇治疗和额外免疫抑制的肝损伤，功能结果只有短暂的改善。我们的案例说明了在治疗老年和较重的SMA患者OA时需要谨慎的风险-收益考虑。特别是考虑到老年SMA患者有多种治疗选择。
