Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience

Chen, Kerrie-Anne; Widger, John; Teng, Arthur; Fitzgerald, Dominic A.; D’Silva, Arlene M; Farrar, Michelle A.

doi:10.1016/j.prrv.2020.09.002

Cited by 30 publications

(47 citation statements)

References 27 publications

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“…The effect of nusinersen on respiratory function and swallowing has been reported in less detail compared to the treatment effect on motor function. We did not find an improvement of respiratory status in most of the older, chronic patients, who were already dependent on respiratory support at treatment start, confirming recent reports from registries in other countries [38,39]. For the six SMA type 1 patients in whom treatment was started shortly after diagnosis, three were without ventilatory support at age 15-44 months, two of them without the need for tube feeding, one of them having a milder phenotype (type 1c) with head control before treatment start.…”

Section: Discussionsupporting

confidence: 90%

Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland

Rüsch

Baumann

Enzmann

et al. 2022

Neuromuscular Disorders

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Section: Discussionsupporting

confidence: 90%

Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland

Rüsch

Baumann

Enzmann

et al. 2022

Neuromuscular Disorders

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“…Similarly, in a large Italian cohort of 85 children with SMA Type 1, with predominantly two copies of SMN 2, there was a small increase in the number and duration of NIV use 1 year after treatment compared to baseline 21 . In a 2‐year study of nine children from Australia, NIV was initiated at 4.5 months and gastrostomy was placed at 8 months after nusinersen and interestingly children with two copies of SMN 2 required more gastrotomies and had more frequent admissions 30 . There are varying reports of nutritional outcomes in the above studies, but generally a small increase in bulbar dysfunction and oral feeding, weight maintenance, risk of aspiration, and gastrostomy placement has been reported.…”

Section: Nusinersenmentioning

confidence: 97%

The respiratory impact of novel therapies for spinal muscular atrophy

Paul

Gushue

Kotha

et al. 2020

Pediatric Pulmonology

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The phenotype of spinal muscular atrophy (SMA) has been changing with the recent availability of three FDA‐approved treatments: intrathecal nusinersen, intravenous onasemnogene abeparvovec‐xioi, and enteral risdiplam. The degree of improvement in muscle strength and respiratory health varies with SMA genotype, severity of baseline neuromuscular and pulmonary impairment, medication used, and timing of the first dose. A spectrum of pulmonary outcomes has been reported with these novel medications when used early and in conjunction with proactive multidisciplinary management of comorbidities. In this review, we summarize the reported impact of these novel therapies on pulmonary well‐being and the improving trajectory of pulmonary morbidity, compared to the natural history of SMA. The importance of ongoing clinical monitoring albeit the improved phenotype is reiterated. We also discuss the limitations of the current SMA‐therapy trials and offer suggestions for future clinical‐outcome studies and long‐term monitoring.

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“…Our previous work had shown that despite having received nusinersen treatment, most patients still required ventilator support and respiratory maintenance care, such as mechanical insufflation‐exsufflation (MIE) 10 . Additional studies have demonstrated similar findings 11–13 . In addition, those patients sustained major problems in other organ systems, which may affect their respiratory function.…”

Section: Introductionmentioning

confidence: 99%

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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Real-world respiratory and bulbar comorbidities of SMA type 1 children treated with nusinersen: 2-Year single centre Australian experience

Cited by 30 publications

References 27 publications

Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland

Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland

The respiratory impact of novel therapies for spinal muscular atrophy

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

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