Panagiotou Panagiota, Kanaka-Gantenbein Christina, Kaditis Athanasios G
Department on Pediatric Respiratory Medicine, Evelina London Children's Hospital, London SE1 7EH, UK.
Division of Pediatric Pulmonology and Sleep Disorders Laboratory, First Department of Pediatrics, Agia Sofia Children's Hospital, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece.
Children (Basel). 2022 Aug 11;9(8):1207. doi: 10.3390/children9081207.
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease resulting in global muscular weakness and, frequently, in respiratory failure and premature death. Gene-based therapies like Nusinersen are now available for patients with SMA. The aim of this review was to assess in "real world" studies, whether novel treatments would have a positive impact on the mechanical ventilatory support requirements of SMA patients, already initiated on ventilatory support prior to treatment administration. A literature search was performed in Pubmed using multiple combinations of MESH terms and the snowball procedure. A total of 14 publications were discussed in this review. Considering all patients included in the published studies who were on ventilatory support and were treated with Nusinersen, 13/172 (7.5%) had reduced needs for ventilatory support, 1/172 (0.6%) did not need ventilation post-treatment, and 122/172 (70.9%) were maintained on the same ventilator settings. Moreover, 2/41 (4.9%) children who were offered gene therapy had no need for further ventilatory support and 12/41 (29.2%) had reduced requirements. In conclusion, available evidence suggests that among children with SMA, who are on mechanical respiratory support either noninvasively or via tracheostomy at the time of gene-based treatment, only a few will be weaned off the ventilator or have reduced ventilator needs per 24 h. Children will usually require the same level of support as before treatment.
脊髓性肌萎缩症（SMA）是一种遗传性神经肌肉疾病，会导致全身性肌肉无力，常伴有呼吸衰竭和过早死亡。像诺西那生钠这样的基因疗法现已可供SMA患者使用。本综述的目的是在“真实世界”研究中评估，对于在开始治疗前已接受通气支持的SMA患者，新疗法是否会对其机械通气支持需求产生积极影响。在PubMed中使用医学主题词（MESH）术语的多种组合并采用滚雪球法进行文献检索。本综述共讨论了14篇出版物。考虑已发表研究中所有接受通气支持并接受诺西那生钠治疗的患者，13/172（7.5%）对通气支持的需求减少，1/172（0.6%）在治疗后无需通气，122/172（70.9%）维持相同的通气设置。此外，接受基因治疗的2/41（4.9%）儿童无需进一步的通气支持，12/41（29.2%）的需求减少。总之，现有证据表明，在接受基因治疗时通过无创或气管切开术接受机械呼吸支持的SMA儿童中，只有少数人能够脱机或每24小时的通气需求减少。儿童通常需要与治疗前相同水平的支持。
