Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea

Shin, Hui Jin; Na, Jihoon; Lee, Hyunjoo; Lee, Young Mock

doi:10.1007/s12519-022-00638-x

Cited by 4 publications

(3 citation statements)

References 45 publications

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“…In addition, no significant improvement in the majority of lung function parameters was found ( 85 ). Stability of respiratory function and need for ventilation was observed also by Shin and colleagues in a cohort of SMA type 1 patients with permanent ventilation via tracheostomy ( 86 ). Conversely, a study conducted on SMA type 2 patients showed an improvement in respiratory function compared to historical controls ( 87 ).…”

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

confidence: 53%

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: 53%

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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“…Subsequent real-life studies, including both prospective and retrospective observational studies, have further supported the beneficial effects of nusinersen on motor function in pediatric and adult patients with SMA types 1, 2, and 3. 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 …”

Section: Resultsmentioning

confidence: 99%

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

Zanoteli,

Araujo,

Becker

et al. 2024

Arq Neuropsiquiatr

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Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.

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“… 6 Subsequently, children with pre-symptomatic and later-onset SMA and adults aged 16–65 years were treated with nusinersen and were found to exhibit considerable improvement in motor function. 7 8 9 10 11 Those with less severe clinical manifestations at baseline tended to have greater improvements in motor function. 10 …”

Section: Introductionmentioning

confidence: 99%

Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea

Shin,

Na,

Lee

et al. 2023

Yonsei Med J

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Purpose To analyze the efficacy and safety of nusinersen in patients with spinal muscular atrophy (SMA) type I with chronic respiratory failure. Materials and Methods We retrospectively reviewed seven patients diagnosed with SMA type I and chronic respiratory failure who were on permanent ventilation and treated with nusinersen at Gangnam Severance Hospital between January 2018 and July 2023. Patient demographics and clinical characteristics were recorded, and treatment progress was evaluated according to Hammersmith Infant Neurological Examination (HINE-2) and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scores. Results Patients initially developed hypotonia at a mean age of 3.7 months. Mean age at start of nusinersen was 7.3 years; the mean duration of follow-up after starting nusinersen was 46.2 months. At 6-, 18-, 38-, 58-, and 74-month follow-up, the mean changes in CHOP-INTEND scores were 1.0, 2.9, 1.8, 1.5, and 1.5, respectively, and the proportions of patients who showed disease amelioration were 28.6%, 71.4%, 75.0%, 100%, and 100%, respectively. Conclusion Nusinersen is safe and effective in patients with SMA type I, even those with chronic respiratory failure and those on permanent ventilation. No significant adverse effects of nusinersen were observed.

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Nusinersen for spinal muscular atrophy types II and III: a retrospective single-center study in South Korea

Cited by 4 publications

References 45 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?

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy

Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea

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