{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T13:00:40Z","timestamp":1781614840480,"version":"3.54.5"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universit\u00e4tsklinikum Ulm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Natural history data show that respiratory function is impaired in SMA patients. Observational studies have shown stabilization of respiratory function in adult SMA patients treated with nusinersen. However, long-term studies investigating the effect of nusinersen on respiratory function in adult SMA patients are rare.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We examined respiratory function using forced vital capacity of predicted normal (FVC%), FVC in liters, capacity per second (FEV1) and peak expiratory flow (PEF) in 192 adult SMA patients treated with nusinersen for a median of 3.2 years (IQR: 2.1\u20134.0, range: 0.2\u20135.2). Changes in spirometric parameters were analyzed using individual linear regression models separate in each patient to estimate the slope. Additionally, three multivariable models were performed to assess the effect of age, sex, treatment duration, baseline FVC% and each one of the variables of interest (1) SMA type, (2) ambulation status, (3) spondylodesis on follow-up FVC%. Associations between respiratory parameters and motor function (HFMSE) were investigated via Scatter plots and Spearman\u2019s rank correlation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Spirometric parameters remained stable during treatment (median annual rate of change of FVC% 0.17% (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.40), FVC in liters \u2009-0.002 (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.59), FEV1 -0.014\u00a0l (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.06) and PEF 0.025\u00a0l\/s (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.65)). In all multivariable models, age, sex, treatment duration, SMA type, ambulation status, and spondylodesis showed no significant association with follow-up FVC%. No significant correlations were observed between respiratory and motor function.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Respiratory parameters remained stable during treatment with nusinersen in adult SMA patients over several years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Clinical trial number<\/jats:title>\n                    <jats:p>Not applicable.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-04009-3","type":"journal-article","created":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T15:04:41Z","timestamp":1757343881000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Respiratory function in 192 adult patients with spinal muscular atrophy (SMA) treated with nusinersen 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She also received travel expenses from Biogen.\n                      BS\n                      received advisory honoraria from Alexion and speaker honoraria and travel reimbursement from Biogen\n                      BB\n                      received compensation for travel expenses from ITF Pharma GmbH outside of the submitted work.\n                      JCK\n                      has received consultant fees from Biogen and Hoffmann-La Roche.\n                      IC\n                      has received research grants and speaker fees from Biogen and Hoffmann-La Roche, outside of the submitted work.\n                      AM\n                      received honoraria from Sanofi as an advisory board member and for lectures and as an advisory board member from Hormosan.\n                      DZ\n                      received compensation from Biogen for participation on advisory boards, from Novartis for consultancy work, and travel compensation from Angelini Pharma outside of the submitted work.\n                      ZU\n                      has received honoraria from Biogen as a consultant.\n                      HL\n                      has received consultant fees from Biogen.\n                      CW\n                      received travel compensations from ITF Pharma GmbH outside the submitted work.\n                      AR\n                      received speaker fees from Amylyx Pharmaceuticals and ROCHE and served on advisory boards for Biogen and Argenx outside of the submitted work.\n                      JDo\n                      has received honoraria from Biogen for lectures.\n                      AO\n                      has received honoraria from Biogen for lectures.\n                      ATo\n                      received speaker honoraria and travel reimbursement from Argenx.\n                      ATh\n                      received speaker honoraria and travel reimbursement from Biogen, Akcea Therapeutics, Swedish Orphan Biovitrum and Alnylam Pharmaceuticals.\n                      RS\n                      has received presentation fees from ITF Pharma outside of the submitted work.\n                      CK\n                      received speaker and consulting honoraria from Biogen, Roche and Novartis.\n                      ACL\n                      received financial research support from AB Science, Biogen Idec, Cytokinetics, GSK, Orion Pharam, Novartis, TauRx Therapeutics Ltd. and TEVA Pharmaceuticals. He also has received honoraria as a consultant from Mitsubishi, Orion Pharma, Novartis, Teva and as an advisory board member of Biogen, Treeway, and Hoffmann-La Roche.\n                      MD\n                      received honoraria as a speaker\/consultant from Biogen and Roche.\n                      JK\n                      received compensation for clinical research and\/or consultancy activities from Biogen, Novartis, Roche and ScholarRock.\n                      SP\n                      received speaker and consulting honoraria from Amylyx, Biogen, Roche, Ferrer, Italfarmaco, and Zambon.\n                      MW\n                      has received consultant honoraria from Biogen and Hoffmann-La Roche, and speaker honoraria and travel support for conference attendance from Biogen, all outside the present work.\n                      TH\n                      received speaker and consulting honoraria from Amylix, Biogen, Hoffmann-LaRoche, Sanofi-Genzyme, Alexion, Alnylam, UCB, Argenx and research support from Biogen and Hoffmann-LaRoche.\n                      RG\n                      has received personal fees from Biogen and Hoffmann-La Roche and served on advisory boards from Biogen, Hoffmann-La Roche, ITF Pharma, Zambon and research support from Biogen, outside of the submitted work.\n                      MF\n                      ,\n                      JDr\n                      ,\n                      JS\n                      ,\n                      KW\n                      ,\n                      TK\n                      ,\n                      JB\n                      ,\n                      JN\n                      ,\n                      GS\n                      ,\n                      MTM\n                      ,\n                      JG\n                      ,\n                      IS\n                      ,\n                      OSK\n                      and\n                      BI\n                      report no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"476"}}