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

 Hui Jin Shin  ;  Ji-Hoon Na  ;  Hyunjoo Lee  ;  Young-Mock Lee 
 WORLD JOURNAL OF PEDIATRICS, Vol.19(5) : 450-459, 2023-05 
Journal Title
Issue Date
Child, Preschool ; Humans ; Infant ; Republic of Korea ; Retrospective Studies ; Scoliosis* / drug therapy ; Spinal Muscular Atrophies of Childhood* / diagnosis ; Spinal Muscular Atrophies of Childhood* / drug therapy
Hammersmith Functional Motor Scale Expanded ; Motor function ; Nusinersen ; South Korea ; Spinal muscular atrophy
Background: This study investigated the efficacy and safety of nusinersen, an antisense oligonucleotide, in patients with spinal muscular atrophy (SMA) types II (OMIM: 253,550) or III (OMIM: 253,400), including those with severe scoliosis or requiring respiratory support via mechanical ventilation.

Methods: Data from 40 patients with genetically confirmed SMA who were treated with nusinersen at our institute from March 2019 to April 2022 were retrospectively analyzed. Of these, 30 patients with an age of onset < 3 years and not on permanent ventilation were selected. Clinical and genetic characteristics were investigated, and motor function was evaluated based on the Hammersmith Functional Motor Scale-Expanded (HFMSE) score.

Results: The mean age of symptom onset was 1.2 years. Most patients were diagnosed with SMA type II (27/30, 90%). Nusinersen was administered via computed tomography-guided or direct intrathecal injection in 87% (26/30) and 13% (4/30) of the patients, respectively. At the 6-, 14-, 22-, and 26-month follow-ups, 72%, 71%, 88%, and 86% of patients showed motor improvement, respectively, with mean changes in HFMSE scores of 2.10, 2.88, 4.21, and 5.29, respectively. Multivariable analysis showed that the use of noninvasive ventilation was associated with poorer outcomes of motor function.

Conclusions: Patients with SMA type II or III who received nusinersen treatment showed significant improvement in motor function. A longer treatment duration led to a higher number of patients with improved motor function. No significant side effects of nusinersen were observed. Patients with SMA, even those with severe scoliosis or on respiratory support, can be safely treated using nusinersen.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Na, Ji Hoon(나지훈) ORCID logo https://orcid.org/0000-0002-3051-2010
Shin, Hui Jin(신희진) ORCID logo https://orcid.org/0000-0002-1541-2564
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Hyun Joo(이현주) ORCID logo https://orcid.org/0000-0002-1432-0449
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