{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T07:05:53Z","timestamp":1781766353574,"version":"3.54.5"},"reference-count":78,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2024,8,12]],"date-time":"2024-08-12T00:00:00Z","timestamp":1723420800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Clinical trials with treatments inhibiting myostatin pathways to increase muscle mass are currently ongoing in spinal muscular atrophy. Given evidence of potential myostatin pathway downregulation in Spinal Muscular Atrophy (SMA), restoring sufficient myostatin levels using disease-modifying treatments (DMTs) might arguably be necessary prior to considering myostatin inhibitors as an add-on treatment. This retrospective study assessed pre-treatment myostatin and follistatin levels\u2019 correlation with disease severity and explored their alteration by disease-modifying treatment in SMA. We retrospectively collected clinical characteristics, motor scores, and mysotatin and follistatin levels between 2018 and 2020 in 25 Belgian patients with SMA (SMA1 (n = 13), SMA2 (n = 6), SMA 3 (n = 6)) and treated by nusinersen. Data were collected prior to treatment and after 2, 6, 10, 18, and 30 months of treatment. Myostatin levels correlated with patients\u2019 age, weight, SMA type, and motor function before treatment initiation. After treatment, we observed correlations between myostatin levels and some motor function scores (i.e., MFM32, HFMSE, 6MWT), but no major effect of nusinersen on myostatin or follistatin levels over time. In conclusion, further research is needed to determine if DMTs can impact myostatin and follistatin levels in SMA, and how this could potentially influence patient selection for ongoing myostatin inhibitor trials.<\/jats:p>","DOI":"10.3390\/ijms25168763","type":"journal-article","created":{"date-parts":[[2024,8,14]],"date-time":"2024-08-14T05:23:27Z","timestamp":1723613007000},"page":"8763","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Impact of Disease Severity and Disease-Modifying Therapies on Myostatin Levels in SMA Patients"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2132-3736","authenticated-orcid":false,"given":"Laurane","family":"Mackels","sequence":"first","affiliation":[{"name":"Adult Neurology Department, Citadelle Hospital, 1 Boulevard Du 12e De Ligne, 4000 Liege, Belgium"},{"name":"MDUK Oxford Neuromuscular Center, Department of Paediatrics, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 9DU, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3222-9286","authenticated-orcid":false,"given":"Virginie","family":"Mariot","sequence":"additional","affiliation":[{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Buscemi","sequence":"additional","affiliation":[{"name":"Neuromuscular Center, Citadelle Hospital, 1 Boulevard Du 12e De Ligne, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-4061","authenticated-orcid":false,"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"MDUK Oxford Neuromuscular Center, Department of Paediatrics, NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford OX3 9DU, UK"},{"name":"Neuromuscular Center, Division of Paediatrics, University Hospital of Li\u00e8ge, University of Li\u00e8ge, Boulevard Du 12e De Ligne, 4000 Liege, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2052-9361","authenticated-orcid":false,"given":"Julie","family":"Dumonceaux","sequence":"additional","affiliation":[{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre and Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/3030","article-title":"Differential SMN2 expression associated with SMA severity","volume":"20","author":"Gavrilov","year":"1998","journal-title":"Nat. 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