Nusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort

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dc.contributor.authorBektas, Omer
dc.contributor.authorGulsen, Murat
dc.contributor.authorDursun, Onur Burak
dc.contributor.authorTekin, Ahmet
dc.contributor.authorYuksel, Deniz
dc.contributor.authorDemir, Ercan
dc.contributor.authorOzturk, Gulten
dc.date.accessioned2026-04-04T13:31:18Z
dc.date.available2026-04-04T13:31:18Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractBackground: SMA Type 1 is the most severe form of spinal muscular atrophy with early symptom onset, limited motor development, and poor prognosis. Recent genetic-based therapies, such as nusinersen, have transformed disease outcomes. We aimed to evaluate the long-term effects of nusinersen on motor, bulbar, and respiratory functions in both symptomatic and presymptomatic SMA Type 1 patients over a period of up to 4 years. Methods: This prospective, non-interventional study included 310 patients with genetically confirmed spinal muscular atrophy at 24 pediatric neurology centers in Turkey. Patients treated with nusinersen were divided into five age-based cohorts at treatment initiation: Cohort A (0-3 months), Cohort B (4-6 months), Cohort C (7-12 months), Cohort D (13-24 months), and Cohort E (>24 months). Efficacy was assessed using the CHOP-INTEND and WHO Motor Milestone Scale. This study also analyzed the respiratory support needs, gastrostomy requirements, and mortality rates across cohorts. Results: Patients treated before 12 months of age showed the most significant improvements in motor milestones, with 58.7% of Cohort A achieving independent sitting. CHOP-INTEND scores increased notably in all cohorts, with the largest improvement observed in Cohort A (93.5%). Ventilator and gastrostomy requirements decreased in the early treated cohorts. Adverse events were rare, with one discontinuation due to hydrocephalus. The overall mortality rate was 21.3%, with most of the deaths occurring within the first year. Interpretation: Nusinersen treatment initiated before 12 months of age, especially before 3 months of age, yielded the most favorable motor outcomes in patients with SMA type 1. Early initiation is associated with improved motor milestones and reduced need for ventilatory support. However, no significant improvements were observed in the bulbar function or in patients requiring extensive respiratory support.
dc.description.sponsorshipThe author(s) declare that no financial support was received for the research and/or publication of this article.
dc.identifier.doi10.3389/fneur.2025.1541507
dc.identifier.issn1664-2295
dc.identifier.orcid0000-0001-7054-3623
dc.identifier.pmid40212617
dc.identifier.scopus2-s2.0-105024884432
dc.identifier.scopusqualityN/A
dc.identifier.urihttps://doi.org/10.3389/fneur.2025.1541507
dc.identifier.urihttps://hdl.handle.net/11616/108699
dc.identifier.volume16
dc.identifier.wosWOS:001464243100001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherFrontiers Media Sa
dc.relation.ispartofFrontiers in Neurology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectspinal muscular atrophy
dc.subjectSMA type 1
dc.subjectmotor function
dc.subjectsevere symptomatic
dc.subjectnusinersen
dc.subjectventilatory
dc.subjectbulbar function
dc.subjectpresymptomatic
dc.titleNusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort
dc.typeArticle

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