Respiratory and sleep outcomes in children with SMA treated with nusinersen - real world experience

Gonski, Kate; Chuang, Sandra; Teng, Arthur; Thambipillay, G; MA, Farrar; MP, Menezes; DA, Fitzgerald

doi:10.1016/j.nmd.2023.04.007

Cited by 9 publications

(8 citation statements)

References 20 publications

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“…In a study by Sansone and colleagues conducted on 118 SMA type 1 (median age 42.8 months), most patients remained stable (82). More than 80% of the children treated before age 2 years survived without the need for NIV ≥16 h. Similarly, a study conducted by Gonski and colleagues in patients with SMA type 1, 2 and 3 showed stability in respiratory function when compared to the natural history of SMA (85). They reported 6 patients with SMA type 2 or 3 (age range 2-17 years) who ceased nocturnal NIV in the two-year period post treatment with nusinersen.…”

Section: Novel Sma Treatments and Their Impact On Sleep And Respirato...mentioning

confidence: 92%

Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?

Abati,

Mauri,

Rimoldi

et al. 2024

Front. Neurol.

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Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, resulting from the degeneration of motor neurons in the spinal cord. A critical aspect of SMA is its impact on respiratory function. As the disease progresses, respiratory muscles, in particular intercostal muscles, become increasingly affected, leading to breathing difficulties and respiratory failure. Without intervention, many children with SMA type 1 die from respiratory failure before their second year of life. While assisted ventilation has improved survival, it often results in ventilator dependence. The development of new SMN-augmenting therapies has renewed optimism, but their long-term impact on respiratory function is uncertain, and non-invasive respiratory support remains an important part of SMA management. Despite the importance of respiratory support in SMA, knowledge regarding sleep disorders in this population is limited. This review aims to synthesize existing literature on sleep and sleep-related breathing disorders in patients with SMA, with a focus on SMA type 1. We summarize evidence of sleep-disordered breathing and respiratory failure in SMA, as well as outcomes and survival benefits associated with non-invasive or invasive ventilation with or without pharmacological therapies. We also discuss current knowledge regarding the effects of novel disease-modifying therapies for SMA on respiratory function and sleep. In conclusion, optimal care for children with SMA requires a multidisciplinary approach that includes neurology and respiratory specialists. This review highlights the importance of monitoring sleep and respiratory function in SMA, as well as the potential benefits and challenges associated with assisted ventilation combined with new therapies.

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Section: Novel Sma Treatments and Their Impact On Sleep And Respirato...mentioning

confidence: 92%

Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?

Abati,

Mauri,

Rimoldi

et al. 2024

Front. Neurol.

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“…For example, after two years of therapy, the number of hospitalizations and emergency room visits among nine children with SMA type 1 in a small Australian study decreased significantly. However, Gonski et al reported an increase in SMA type 1 hospital admissions and no improvement in number of admissions in children with SMA type 2 and 3 following the same period (50,53,59). More research on this outcome is required.…”

Section: Nusinersen (Spinraza ® )mentioning

confidence: 99%

“…Data on the impact of nusinersen on respiratory outcomes in the real-world setting are scarce and contradictory ( 53 ). A multicenter study of Farrar et al compared the effect of nusinersen in eight newly diagnosed children with SMA type 1 vs. eight previously diagnosed and symptomatic patients.…”

Section: Impact Of Disease-modifying Therapies On Respiratory Outcomesmentioning

confidence: 99%

“…Stabilization of FVC after initiation of nusinersen was documented in 2 single center studies ( 53 , 60 ). This stabilization was confirmed by Chako et al with the added benefit of significantly slower rate of annual decline in the FVC z-score, compared to the retrospectively collected rate of decline in the same patients before initiation of nusinersen, especially in SMA type 2 ( 61 ).…”

Section: Impact Of Disease-modifying Therapies On Respiratory Outcomesmentioning

confidence: 99%

“…Despite the stabilization in FVC and respiratory requirements, children continue to develop respiratory comorbidities including sleep disordered breathing ( 53 ), but a significant reduction in Apnea Hypopnea Index (AHI) and an improvement in oxygen nadir after introduction of nusinersen has been described ( 53 , 61 ).…”

Section: Impact Of Disease-modifying Therapies On Respiratory Outcomesmentioning

confidence: 99%

See 2 more Smart Citations

Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies

Lagae,

Proesmans,

Van den Hauwe

et al. 2024

Front. Pediatr.

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Respiratory complications are common in spinal muscular atrophy (SMA) and significantly contribute to morbidity and mortality in these patients. Generalized respiratory and bulbar muscle weakness translates into diverse and complex clinical consequences necessitating strict follow-up and specialized care. The natural history of SMA has evolved drastically in recent years as a result of the introduction of novel, disease-modifying therapies. While the impact of these therapies on motor function is well described in literature, its consequence for respiratory management has not been extensively studied. In this review we aim to provide a comprehensive overview of the respiratory morbidities, their follow-up, management, and the impact of novel therapies in SMA.

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Impact of Disease-modifying Therapies on Respiratory Function in People with Neuromuscular Disorders

Xiao,

Amin

2024

Sleep Medicine Clinics

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Respiratory and sleep outcomes in children with SMA treated with nusinersen - real world experience

Cited by 9 publications

References 20 publications

Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?

Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?

Respiratory morbidity in patients with spinal muscular atrophy—a changing world in the light of disease-modifying therapies

Impact of Disease-modifying Therapies on Respiratory Function in People with Neuromuscular Disorders

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