评估接受 nusinersen 治疗的 SMA 患儿的呼吸肌和运动功能。

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.

机构信息

Pediatric Neurology and ICU Department, AP-HP Université Paris Saclay, DMU Santé de l'Enfant et de l'Adolescent, Hôpital Raymond Poincaré, Garches, France.

Centre de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Centre Nord- Est- Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.

出版信息

Pediatr Pulmonol. 2021 Jan;56(1):299-306. doi: 10.1002/ppul.25142. Epub 2020 Nov 5.

DOI:10.1002/ppul.25142

PMID:33118682

Abstract

INTRODUCTION

Nusinersen is associated with an improvement in motor function in children with spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory muscles performance and lung function were evaluated in children with SMA 1c and 2 after six injections of nusinersen (M14). Results from patients with SMA2 were compared with data of age-matched historical controls. Motor function tests (MFM and HINE-2) were assessed at baseline and M14 in the treated patients.

RESULTS

Sixteen children (2 SMA Type 1c and 14 SMA Type 2), mean age 9.4 ± 2.3 years, were included. The data of 14 historical SMA 2 controls (mean age 9.3 ± 1.9 years) were gathered. The strength of the global inspiratory muscles of SMA 2 treated with nusinersen, assessed on maximal static inspiratory pressure, forced vital capacity, and esophageal pressure during a maximal sniff was significantly better compared with historical controls (p < .05). A significant improvement in MFM and HINE-2 was observed in the patients with 16 SMA treated with nusinersen after 14 months as compared with baseline.

CONCLUSION

In children with SMA Type 2, respiratory muscle performance was significantly better after six injections of nusinersen as compared with age-matched SMA Type 2 historical controls.

摘要

介绍

nusinersen 可改善脊髓性肌萎缩症（SMA）患儿的运动功能，但关于呼吸肌力量的数据却很少。我们评估了 1c 型和 2 型 SMA 患儿在接受六次 nusinersen 注射（M14）后的呼吸肌功能和肺功能。将 SMA2 患者的结果与年龄匹配的历史对照数据进行比较。在治疗患者中，在基线和 M14 时评估运动功能测试（MFM 和 HINE-2）。

结果

纳入了 16 名儿童（2 名 1c 型 SMA 和 14 名 2 型 SMA），平均年龄为 9.4±2.3 岁。收集了 14 名历史 SMA 2 对照者（平均年龄 9.3±1.9 岁）的数据。与历史对照组相比，接受 nusinersen 治疗的 SMA 2 患儿的整体吸气肌强度（通过最大静态吸气压力、用力肺活量和最大吸气时食管压评估）明显更好（p<0.05）。与基线相比，16 名 SMA 患者在接受 14 个月的 nusinersen 治疗后，MFM 和 HINE-2 明显改善。