Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions

Introduction

Spinal muscular atrophy type I (SMA1) is the most common and severest form of SMA. According to natural history studies, affected babies never achieve independent sitting, and the combined median age of death or permanent ventilation is 13.5 months.1 Nusinersen, an antisense oligonucleotide that modifies survival motor neuron (SMN2) splicing to enhance full-length SMN protein expression, is the first of many promising approved SMA treatments. The ENDEAR nusinersen clinical trial on SMA1 in patients aged <7 months showed promising motor milestone achievements and improved survival.2 Through this multinational study, we provide the first Asian real-world data on patients with SMA1 after 1 year of nusinersen treatment.

Methods

This retrospective observational cohort study, involving eight institutes in three Asian regions (Hong Kong SAR, Taiwan and South Korea) evaluated the baseline clinical characteristics, motor outcomes and changes in ventilation needs of participating patients with SMA1, from pre-treatment (M0) to…

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