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Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function

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Abstract

Introduction

Nusinersen was approved for 5q spinal muscular atrophy (SMA), irrespective of age, SMA type or functional status. Nonetheless, long-term data on adults with milder phenotypes are scarce. We aimed to characterize evolution on motor and respiratory function in our cohort of adults with type 3 SMA.

Methods

We conducted a longitudinal retrospective single-center study, including adults (≥18 years) with type 3 SMA under nusinersen for > 22 months. We reported on motor scores and spirometry parameters.

Results

Ten patients were included, with a median follow-up of 34 months (range = 22–46). Four patients (40%) were walkers. None used non-invasive ventilation. In Revised Upper Limb Module (RULM) and Expanded Hammersmith Functional Motor Scale (HFMSE), difference of medians increased at 6, 22 and 46 months comparing to baseline (−0.5 vs. + 1.5 vs. + 2.5 in RULM; + 4.0 vs. + 7.5 vs. + 6.0 in HFMSE). Two (50%) walkers presented a clinically meaningful improvement in 6-min walk distance. We did not report any clinically meaningful decrement in motor scores. Spirometry parameters showed an increasing difference of medians in maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP) (−3 vs. + 13.4 vs. + 28.7 percentage points of predicted value for MIP; + 11.8 vs. + 13.1 vs. 13.3 percentage points of predicted value for MEP).

Discussion

Our cohort supports a sustained benefit of nusinersen in adults with type 3 SMA, in motor and respiratory function. Multicentric studies are still warranted.

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Authors and Affiliations

  1. Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal

    Catarina Serrão, Catarina Falcão de Campos, Isabel Conceição, Mamede de Carvalho & Miguel Oliveira Santos

  2. Department of Physical Medicine and Rehabilitation, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal

    Sara Domingues

  3. Institute of Physiology, Instituto de Medicina Molecular João Lobo Antunes, Centro de Estudos Egas Moniz, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal

    Catarina Falcão de Campos, Isabel Conceição, Mamede de Carvalho & Miguel Oliveira Santos

  4. Thoracic Department, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal

    Susana Moreira

Authors
  1. Catarina Serrão
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  2. Sara Domingues
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  3. Catarina Falcão de Campos
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  4. Susana Moreira
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  5. Isabel Conceição
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  6. Mamede de Carvalho
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  7. Miguel Oliveira Santos
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Corresponding author

Correspondence to Miguel Oliveira Santos.

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Serrão, C., Domingues, S., de Campos, C.F. et al. Nusinersen in adults with type 3 spinal muscular atrophy: long-term outcomes on motor and respiratory function. Neurol Sci 45, 2887–2891 (2024). https://doi.org/10.1007/s10072-024-07515-7

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