Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance

Tachibana, Y.; Takasaki, Sakura; Hoshino, Misuzu; Makioka, Haruki; Jin, Mingshou

doi:10.1080/00207454.2022.2095270

Cited by 5 publications

(4 citation statements)

References 19 publications

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Section: Resultsmentioning

confidence: 99%

“…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%

“…Subsequent real-life studies with type 1 SMA patients, including those using the drug in an expanded access program, further confirmed the positive effects of nusinersen on motor and respiratory function, as well as on the survival of patients with long-term illness and varying respiratory conditions. [25][26][27][28][29][30][31][32][33][34][35][36][37][38][39][40] The CHERISH trial was a placebo-randomized study that enrolled 126 patients with late-onset SMA aged 2 to 12 years. 41 The study demonstrated that patients who received nusinersen experienced clinically significant improvements in motor function compared to the control group.…”

Section: Regular Monitoring For Adverse Eventsmentioning

confidence: 99%

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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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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Regular Monitoring For Adverse Eventsmentioning

confidence: 99%

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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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show abstract

“…SMN2 , a highly homologous SMN1 gene located on chromosome 5, produces few functional SMN1 proteins through alternative splicing in exon 7. Patients with higher number of the SMN2 gene copies experience milder and later-onset motor weakness owing to the relatively higher production of functional SMN1 protein through alternative splicing of SMN2 ( 3 , 5 ).…”

Section: Introductionmentioning

confidence: 99%

Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea

Cho,

Lee,

Kim

et al. 2023

Front. Neurol.

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IntroductionNusinersen is the first drug approved for spinal muscular atrophy (SMA) treatment. In this study, we aimed to evaluate the long-term safety and efficacy of nusinersen, assess the therapeutic effects based on the treatment initiation timing and baseline motor function, and explore the perception of functional improvement from either parents or patients, utilizing 3-year nationwide follow-up data in South Korea.MethodsWe enrolled patients with SMA who were treated with nusinersen under the National Health Insurance coverage, with complete motor score records available and a minimum treatment duration of 6 months. To evaluate the motor function of patients, the Hammersmith Infant Neurological Examination-2 (HINE-2) was used for type 1 and the Expanded Hammersmith Functional Motor Scale (HFMSE) was used for types 2 and 3 patients. A significant improvement was defined as a HINE-2 score gain ≥5 for patients with type 1 and an HFMSE score ≥ 3 for patients with types 2 and 3 SMA. Effects of treatment timing were assessed. Patients with type 2 were further categorized based on baseline motor scores for outcome analysis. We also analyzed a second dataset from five tertiary hospitals with the information on parents/patients-reported impressions of improvement.ResultsThe study comprised 137 patients, with 21, 103, and 13 patients representing type 1, 2, and 3 SMA, respectively. At the 3-year follow-up, the analysis encompassed 7 patients with type 1, 12 patients with type 2, and none with type 3. Nearly half of all enrolled patients across SMA types (42.8, 59.2 and 46.2%, respectively) reached the 2-year follow-up for analysis. Patients with type 1 SMA exhibited gradual motor function improvement over 1-, 2-, and 3-year follow-ups (16, 9, and 7 patients, respectively). Patients with type 2 SMA demonstrated improvement over 1-, 2-, and 3-year follow-ups (96, 61 and 12 patients, respectively). Early treatment from symptom onset resulted in better outcomes for patients with type 1 and 2 SMA. In the second dataset, 90.7% of 108 patients reported subjective improvement at the 1-year follow-up.ConclusionNusinersen treatment for types 1–3 SMA is safe and effective in long-term follow-up. Early treatment initiation was a significant factor affecting long-term motor outcome.

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Later efficacy of nusinersen treatment in adult patients with spinal muscular atrophy: A retrospective case study with a median 4-year follow-up

Funato,

Kino,

Iwata

et al. 2024

Brain and Development

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Real-world safety and effectiveness of nusinersen, a treatment for spinal muscular atrophy, in 401 Japanese patients: results from an interim analysis of post-marketing surveillance

Cited by 5 publications

References 19 publications

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

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

Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea

Later efficacy of nusinersen treatment in adult patients with spinal muscular atrophy: A retrospective case study with a median 4-year follow-up

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