Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen.

Fatigue (subjective perception) and fatigability (objective motor performance worsening) are relevant aspects of disability in individuals with spinal muscular atrophy (SMA). The effect of nusinersen on fatigability in SMA patients has been investigated with conflicting results. We aimed to evaluate this in adult with SMA3. We conducted a multicenter retrospective cohort study, including adult ambulant patients with SMA3, data available on 6-minute walk test (6MWT) and Hammersmith Functional Motor Scale-Expanded (HFMSE) at baseline and at least at 6 months of treatment with nusinersen. We investigated fatigability, estimated as 10% or higher decrease in walked distance between the first and sixth minute of the 6MWT, at baseline and over the 14-month follow-up. Forty-eight patients (56% females) were included. The 6MWT improved after 6, 10, and 14 months of treatment (p < 0.05). Of the 27 patients who completed the entire follow-up, 37% improved (6MWT distance increase ≥30 m), 48.2% remained stable, and 14.8% worsened (6MWT distance decline ≥30 m). Fatigability was found at baseline in 26/38 (68%) patients and confirmed at subsequent time points (p < 0.05) without any significant change over the treatment period. There was no correlation between fatigability and SMN2 copy number, sex, age at disease onset, age at baseline, nor with 6MWT total distance and baseline HFMSE score. Fatigability was detected at baseline in approximately 2/3 of SMA3 walker patients, without any correlation with clinical features, included motor performance. No effect on fatigability was observed during the 14-month treatment period with nusinersen. © 2024 The Author(s). Muscle & Nerve published by Wiley Periodicals LLC.

Citation

Alessandra Govoni, Giulia Ricci, Silvia Bonanno, Luca Bello, Francesca Magri, Megi Meneri, Francesca Torri, Claudia Caponnetto, Luigia Passamano, Marina Grandis, Francesca Trojsi, Federica Cerri, Giulio Gadaleta, Giuliana Capece, Luca Caumo, Raffaella Tanel, Elena Saccani, Veria Vacchiano, Gianni Sorarù, Eustachio D'Errico, Irene Tramacere, Sara Bortolani, Enrica Rolle, Cinzia Gellera, Riccardo Zanin, Mauro Silvestrini, Luisa Politano, Angelo Schenone, Stefano Carlo Previtali, Angela Berardinelli, Mara Turri, Lorenzo Verriello, Michela Coccia, Renato Mantegazza, Rocco Liguori, Massimiliano Filosto, Maria Antonietta Maioli, Isabella Laura Simone, Tiziana Mongini, Stefania Corti, Maria Laura Manca, Elena Pegoraro, Gabriele Siciliano, Giacomo Pietro Comi, Lorenzo Maggi. Six-minute walk test as outcome measure of fatigability in adults with spinal muscular atrophy treated with nusinersen. Muscle & nerve. 2024 Oct;70(4):816-823

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PMID: 39096012

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