Nusinersen for Spinal Muscular Atrophy type 1: Real-World Respiratory Experience

Lavie, Moran; Diamant, Nir; Sadot, Efraim; Fatal, Aviva; Sagi, Liora; Domany, Keren Armoni; Amirav, Israel

doi:10.1183/13993003.congress-2020.3417

Cited by 17 publications

(39 citation statements)

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“…In this issue, Lavie et al 5 offer insights into clinical respiratory outcomes from 3 years of prospective data collection in their cohort of 20 SMA1 patients treated before and after 2 years of nusinersen in Israel. Their work builds on the scientific evidence of the efficacy of nusinersen primarily for motor outcomes over the last decade.…”

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confidence: 99%

“…The paper by Lavie et al 5 contributes to our understanding with its focus on “real‐world” variables including starting or ongoing need for assisted ventilation, the use of mechanical insufflation‐exsufflation, respiratory complications, and treatment cessation due to respiratory reasons, or death in around 15% of cases attributed to pulmonary aspiration. In essence, it is a source of modest encouragement for clinicians as the majority of children demonstrated stability of respiratory support over the first 2 years of treatment with nusinersen which is in itself much better than the natural history of the condition with progressive decline and death in 90% by the age of 2 years.…”

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confidence: 99%

“…Think of asthma preventers or any therapies in cystic fibrosis including expensive correctors. In a prospective study on real‐world respiratory outcomes, the absence of information on adherence with average daily hours of support from memory cards inside the NIV devices is a short‐coming of the study of Lavie et al 5 This is something which, with a serial assessment of polysomnography parameters, should be addressed in future studies in SMA1‐treated patients to ascertain the true rather than potentially perceived benefit of NIV.…”

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confidence: 99%

“…Lavie et al 5 provide insight into the everyday clinical respiratory burden of patients with SMA1 treated with nusinersen while highlighting further areas of research. Specifically, they rightly suggest a beneficial effect with the earliest initiation of nusinersen due to the possibility that nusinersen may have an effect on preserving respiratory function if started at a younger age.…”

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confidence: 99%

“…Logically, this could be readily achieved with emerging increase in newborn screening programs including SMA genes in countries such as Australia and Belgium 15 . This would also enable quantification of the number of copies of SMN2 genes present, missing in 30% of cases in the series of Lavie et al 5 This stratification of genotype may be more important than ever in the nusinersen era as we improve our ability to predict outcomes beyond the age of presentation (types 1a, 1b, and 1c) 13 . The argument for newborn screening for SMA, with earlier diagnosis and improved outcomes for such an expensive therapy seems persuasive.…”

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Respiratory outcomes post nusinersen in spinal muscular atrophy type 1

Gonski

Fitzgerald

2020

Pediatric Pulmonology

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confidence: 99%

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confidence: 99%

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confidence: 99%

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confidence: 99%

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Respiratory outcomes post nusinersen in spinal muscular atrophy type 1

Gonski

Fitzgerald

2020

Pediatric Pulmonology

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Nonrespiratory complications of nusinersen‐treated spinal muscular atrophy type 1 patients

Lavie

Rochman

Sagi

et al. 2022

Pediatric Pulmonology

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Background Emergence of new treatments for spinal muscular atrophy type 1 (SMA1) has led to dramatic improvements in respiratory failure and survival. However, these “treated” patients sustain major problems in other organ systems, which may directly or indirectly affect their respiratory function. We observed three main nonrespiratory manifestations in these patients comprised of facial deformities, feeding problems, and spinal deformities. Objective To investigate these three main sequelae in nusinersen‐treated SMA1 patients. Methods Data on nusinersen‐treated SMA1 patients were prospectively collected throughout a 3‐year period, with special focus upon nonrespiratory features of the disease. Results Twenty nusinersen‐treated SMA1 patients were included (eight males, median age 13.5 months, interquartile range: 4–56.2 months), among whom 17 survived after 3 years of follow‐up. At follow‐up, 15 (88%) patients were diagnosed with facial weakness, hypoplasia, or deformity. All but one patient (94%) were fed invasively by percutaneous endoscopic gastrostomy or nasogastric tube feeding. Four patients (25%) had maintained oral feeding in parallel to gastrostomy feeding and had clinical and radiologic evidence of aspirations. Fifteen (88%) patients were diagnosed with scoliosis, of whom seven had undergone or were scheduled to undergo corrective surgery. Conclusions Nusinersen‐treated SMA1 patients may sustain facial deformities, feeding problems, and severe scoliosis, all of which affect their respiratory system. Strict surveillance of these complications is essential to avoid further respiratory morbidity.

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

Menard

Seferian

Fleurence³

et al. 2022

Pediatric Pulmonology

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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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Nusinersen for Spinal Muscular Atrophy type 1: Real-World Respiratory Experience

Cited by 17 publications

References 0 publications

Respiratory outcomes post nusinersen in spinal muscular atrophy type 1

Respiratory outcomes post nusinersen in spinal muscular atrophy type 1

Nonrespiratory complications of nusinersen‐treated spinal muscular atrophy type 1 patients

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

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