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Introduction <p>Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder associated with respiratory complications and reduced quality of life (QOL). Although disease-modifying therapies have altered the clinical course of SMA, the role of home-based respiratory physiotherapy as an adjunct to pharmacologic treatment remains underexplored. The aim of this study is to evaluate the impact of a 1-year home-based respiratory physiotherapy program on QOL and pulmonary function in nusinersen-treated patients with SMA types 2 and 3.</p> Methods <p>This mixed prospective interventional and retrospective analytical study assessed the impact of weekly home-based, personally tailored respiratory physiotherapy sessions in addition to standard multidisciplinary care. Group allocation was determined by patient or parental willingness to participate and geographical feasibility for weekly home visits. Pulmonary function tests (PFTs) were performed at baseline and after 12 months. QOL was assessed with the SF-36 questionnaire and the Global Rating of Change (GROC) scale.</p> Results <p>Twenty-nine patients with spinal muscular atrophy (SMA) types 2 and 3 receiving nusinersen were included. The intervention group (<i>n</i> = 15) and the control group (<i>n</i> = 14) were comparable at baseline. Objective respiratory parameters remained stable in both groups with no significant differences at the end of the intervention (forced vital capacity % predicted: 72.7 ± 25.1 in the intervention group vs. 69.4 ± 26.5 in the control group, <i>p</i> = 0.7). In contrast, the intervention group demonstrated significantly higher scores in multiple SF-36 domains, including physical functioning and energy/fatigue (41.3 ± 43.7 vs. 2.1 ± 3.7 and 71.7 ± 16.9 vs. 51.4 ± 14.5, respectively; <i>p</i> &lt; 0.05). The median GROC score in the intervention group was 3.0, indicating a clinically meaningful perceived benefit in QOL by exceeding the minimal clinically important difference threshold.</p> Conclusion <p>Home-based respiratory physiotherapy was associated with stable pulmonary indices as well as significant improvements in perceived health status and QOL in patients with SMA treated with nusinersen.</p>

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Impact of Home-Based Respiratory Physiotherapy in Nusinersen-Treated Patients with Spinal Muscular Atrophy

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月2日

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  • Moria Be’er,
  • Lior Shperling,
  • Mika Rochman,
  • Israel Amirav,
  • Michal Cahal,
  • Revital Lavi,
  • Efraim Sadot,
  • Yotam Lior,
  • Moran Lavie

摘要

Introduction

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder associated with respiratory complications and reduced quality of life (QOL). Although disease-modifying therapies have altered the clinical course of SMA, the role of home-based respiratory physiotherapy as an adjunct to pharmacologic treatment remains underexplored. The aim of this study is to evaluate the impact of a 1-year home-based respiratory physiotherapy program on QOL and pulmonary function in nusinersen-treated patients with SMA types 2 and 3.

Methods

This mixed prospective interventional and retrospective analytical study assessed the impact of weekly home-based, personally tailored respiratory physiotherapy sessions in addition to standard multidisciplinary care. Group allocation was determined by patient or parental willingness to participate and geographical feasibility for weekly home visits. Pulmonary function tests (PFTs) were performed at baseline and after 12 months. QOL was assessed with the SF-36 questionnaire and the Global Rating of Change (GROC) scale.

Results

Twenty-nine patients with spinal muscular atrophy (SMA) types 2 and 3 receiving nusinersen were included. The intervention group (n = 15) and the control group (n = 14) were comparable at baseline. Objective respiratory parameters remained stable in both groups with no significant differences at the end of the intervention (forced vital capacity % predicted: 72.7 ± 25.1 in the intervention group vs. 69.4 ± 26.5 in the control group, p = 0.7). In contrast, the intervention group demonstrated significantly higher scores in multiple SF-36 domains, including physical functioning and energy/fatigue (41.3 ± 43.7 vs. 2.1 ± 3.7 and 71.7 ± 16.9 vs. 51.4 ± 14.5, respectively; p < 0.05). The median GROC score in the intervention group was 3.0, indicating a clinically meaningful perceived benefit in QOL by exceeding the minimal clinically important difference threshold.

Conclusion

Home-based respiratory physiotherapy was associated with stable pulmonary indices as well as significant improvements in perceived health status and QOL in patients with SMA treated with nusinersen.