Original ArticleRespiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen
Section snippets
Methods
All the patients with type 1 SMA who participated in the EAP program with nusinersen from baseline to 300 days after first infusion (T300) were included for our analysis. Details of the EAP Italian experience have already been reported.10,14 Intrathecal injections with nusinersen were administered on days 1, 15, 30, 60 (loading doses), and then every 4 months (maintenance doses). Institutional review board approval and parents' consents were obtained at each site. The design of the study and
Results
One hundred eighteen patients had their first infusion successfully performed at baseline (median age 42.8 months; IQR 11.0-102.8 months). Four patients died, and another 6 withdrew their participation before the tenth month, either because of difficulties related to the administration procedure, or because the effects of treatment were not as evident as expected. Five had to be re-directed to local centers in Italy for the treatment and were, therefore, considered lost to follow-up because it
Discussion
Longitudinal natural history data on respiratory function in type 1 SMA are scanty, as until recently most studies focused on survival or time to respiratory event (ie, tracheostomy or ventilation >16 hours). In the last decade, 2 natural history studies, reflecting data collected after care recommendations had become available,17 showed limited survival in the first 2 years of life.5,6,18 Only a few studies reported respiratory data, especially in cohorts including older patients with type 1
References (20)
- et al.
1st Italian SMA Family Association Consensus Meeting
Neuromuscul Disord
(2015) - et al.
Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Neuromuscul Disord
(2018) - et al.
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function
Neuromuscul Disord
(2018) - et al.
Expanded access program with Nusinersen in SMA type I in Italy: strengths and pitfalls of a successful experience
Neuromuscul Disord
(2017) - et al.
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy
Neuromuscul Disord
(2018) - et al.
Disease impact on general well-being and therapeutic expectations of European type II and type III spinal muscular atrophy patients
Neuromuscul Disord
(2017) The use of mechanical ventilation is appropriate in children with genetically proven spinal muscular atrophy type 1: the motion for
Paediatr Respir Rev
(2008)- et al.
Outcome of goal-directed noninvasive ventilation and mechanical insufflation/exsufflation in spinal muscular atrophy type I
Arch Dis Child
(2011) - et al.
Spontaneous breathing pattern as respiratory functional outcome in children with spinal muscular atrophy (SMA)
PLoS One
(2016) - et al.
Observational study of spinal muscular atrophy type I and implications for clinical trials
Neurology
(2014)
Cited by (52)
Respiratory and sleep outcomes in children with SMA treated with nusinersen - real world experience
2023, Neuromuscular DisordersEvaluation of sputum cultures in children with spinal Muscular atrophy
2023, Respiratory MedicineEvaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland
2022, Neuromuscular DisordersCitation Excerpt :Tube feeding and ventilatory support became necessary at age of 8–20 months, associated with a respiratory infection in all. In our cohort, we did not see a correlation between motor response and the need for ventilatory or feeding support, which is in line with previous reports [38,40]. Patients continued to show improvements with acquisition of a stable sit or the ability to stand with assistance.
V.S., M.P., E.B., and E.M. serve as scientific consultants for Biogen on Medical Advisory Boards. The other authors declare no conflicts of interest.
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Contributed equally.