Department of Pediatric Pulmonology, Sidra Medicine, Doha, Qatar.
Department of Pediatric Pulmonology, Hamad Medical Corporation, Doha, Qatar.
Pediatr Pulmonol. 2023 Apr;58(4):1004-1011. doi: 10.1002/ppul.26285. Epub 2023 Jan 6.
Spinal muscular atrophy (SMA) is an inherited progressive neuromuscular disorder characterized by generalized hypotonia, respiratory failure and early death. The introduction of gene replacement therapy (GRT) modified the natural history of the disease. However, more data is needed to understand the long-term effect of GRT on measurable respiratory outcomes. We report the respiratory outcomes in our cohort of patients with SMA post-GRT in 2-year period.
A retrospective chart-review of genetically confirmed children with SMA who received GRT between 2019 and 2021 in Qatar. The evaluated respiratory outcomes were chronic respiratory support, respiratory hospitalizations, escalation of respiratory support and polysomnography results before and after GRT. Nonrespiratory outcomes; nutritional status, swallowing, and motor functions; were also assessed.
A total of 11 patients (9 patients with SMA-1 and 2 patients with SMA-2) received GRT at a median age of 12 months and 22 months in patients with SMA-1 and SMA-2, respectively. All patients were successfully weaned off Noninvasive ventilation (NIV) except one patient who remained on mechanical ventilation through tracheostomy tube. The annualized hospitalization rate dropped by half after GRT. The average length of stay (LOS) in intensive care unit (ICU) decreased by 17.32 days/patient/year after GRT. Duration of required escalation of respiratory support during acute hospitalizations has dropped by 18.56 days/patient/year post-GRT.
We report favorable respiratory outcomes of GRT in our cohort. GRT resulted in discontinuation of chronic respiratory support in majority of ventilated patients. GRT also resulted in decreased respiratory hospitalization rate, hospital-LOS, ICU-LOS, and need for escalation of ventilatory support.
脊髓性肌萎缩症（SMA）是一种遗传性进行性神经肌肉疾病，其特征为全身肌肉张力减退、呼吸衰竭和早期死亡。基因替代疗法（GRT）的引入改变了疾病的自然史。然而，我们需要更多的数据来了解 GRT 对可测量的呼吸结果的长期影响。我们报告了我们的 SMA 患者在接受 GRT 后 2 年内的呼吸结果。
对 2019 年至 2021 年在卡塔尔接受 GRT 的 SMA 患儿进行回顾性病历分析。评估的呼吸结果包括慢性呼吸支持、呼吸住院、呼吸支持升级和 GRT 前后的多导睡眠图结果。还评估了非呼吸结果，包括营养状况、吞咽和运动功能。
共有 11 名患者（9 名 SMA-1 患者和 2 名 SMA-2 患者）在 SMA-1 和 SMA-2 患者的中位年龄分别为 12 个月和 22 个月时接受 GRT。除一名患者仍通过气管造口管接受机械通气外，所有患者均成功脱机。GRT 后，年度住院率减半。GRT 后，重症监护病房（ICU）的平均住院时间（LOS）减少了 17.32 天/患者/年。急性住院期间需要升级呼吸支持的时间减少了 18.56 天/患者/年。
我们报告了我们的队列中 GRT 的有利呼吸结果。GRT 使大多数接受通气的患者停止了慢性呼吸支持。GRT 还降低了呼吸住院率、医院 LOS、ICU-LOS 和需要升级通气支持的几率。
