Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen - Équipe WAKING, Physiologie Intégrée du Système d'Éveil du Centre de Recherche en Neurosciences de Lyon Access content directly
Journal Articles Pediatric Pulmonology Year : 2022

Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen

Audrey Barzic
  • Function : Author
Géraldine Labouret
  • Function : Author


Introduction: The recent development of disease-modifying treatments in spinal muscular atrophy (SMA) type 1 shifted these patients' management from palliative to proactive. The aim of this study was to assess patients' nocturnal gas exchanges before noninvasive ventilation (NIV) initiation and their clinical evolution to determine if capnia is a good criterion to decide when to introduce respiratory support. Patients and methods: This multicentric retrospective study reports the respiratory management and evolution of 17 SMA type 1 children (10 females) for whom treatment with Nusinersen was initiated between 2016 and 2018. Results: Median [interquartile range-IQR] age at diagnosis and at first Nusinersen injection was of 4 [3;8] and 4 [3;9] months, respectively. Patients were followed during 38 [24;44] months. Thirteen (76%) patients were started on NIV at a median [IQR] age of 12 [9;18] months. Repeated hospitalizations and intensive care unit admissions were needed for 11 of them. Blood gas and nocturnal gas exchange recordings performed before NIV initiation were always normal. 9/13 X-ray performed before NIV showed atelectasis and/or acute lower respiratory tract infections. There was a significant decrease in the total number of hospital admissions between the first and second year of treatment (p = 0.04). Conclusion: This study shows that patients do not present with nocturnal hypoventilation before respiratory decompensations and NIV initiation, and suggests that a delay in NIV initiation might result in respiratory complications. There is a need for disease-centered guidelines for the respiratory management of these patients, including NIV indications.
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Dates and versions

hal-03995899 , version 1 (18-02-2023)



Joris Menard, Andreea Seferian, Emmanuelle Fleurence, Audrey Barzic, Alexandra Binoche, et al.. Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen. Pediatric Pulmonology, 2022, 57 (6), pp.1505-1512. ⟨10.1002/ppul.25899⟩. ⟨hal-03995899⟩
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