{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:51:21Z","timestamp":1790833881510,"version":"4.1.0"},"reference-count":62,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T00:00:00Z","timestamp":1713744000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,4,22]],"date-time":"2024-04-22T00:00:00Z","timestamp":1713744000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,4,30]]},"abstract":"<jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>The objective of this study was to describe predictors of loss of ambulation in Duchenne muscular dystrophy (DMD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>This systematic review and meta-analysis included searches of MEDLINE ALL, Embase, and the Cochrane Database of Systematic Reviews from January 1, 2000, to December 31, 2022, for predictors of loss of ambulation in DMD. Search terms included \u201cDuchenne muscular dystrophy\u201e as a Medical Subject Heading or free text term, in combination with variations of the term \u201cpredictor\u201e. Risk of bias was assessed using the Newcastle-Ottawa Scale. We performed meta-analysis pooling of hazard ratios of the effects of glucocorticoids (vs. no glucocorticoid therapy) by fitting a common-effect inverse-variance model.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The bibliographic searches resulted in the inclusion of 45 studies of children and adults with DMD from 17 countries across Europe, Asia, and North America. Glucocorticoid therapy was associated with delayed loss of ambulation (overall meta-analysis HR deflazacort\/prednisone\/prednisolone: 0.44 [95% CI: 0.40-0.48]) (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 25 studies). Earlier onset of first signs or symptoms, earlier loss of developmental milestones, lower baseline 6MWT (i.e.,&lt;350 vs. \u2265350 metres and &lt;330 vs. \u2265 330 metres), and lower baseline NSAA were associated with earlier loss of ambulation (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 5 studies). Deletion of exons 3-7, proximal mutations (upstream intron 44), single exon 45 deletions, and mutations amenable of skipping exon 8, exon 44, and exon 53, were associated with prolonged ambulation; distal mutations (intron 44 and downstream), deletion of exons 49-50, and mutations amenable of skipping exon 45, and exon 51 were associated with earlier loss of ambulation (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 13 studies). Specific single-nucleotide polymorphisms in\n                      <jats:italic toggle=\"yes\">CD40<\/jats:italic>\n                      gene rs1883832,\n                      <jats:italic toggle=\"yes\">LTBP4<\/jats:italic>\n                      gene rs10880,\n                      <jats:italic toggle=\"yes\">SPP1<\/jats:italic>\n                      gene rs2835709 and rs11730582, and\n                      <jats:italic toggle=\"yes\">TCTEX1D1<\/jats:italic>\n                      gene rs1060575 (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 7 studies), as well as race\/ethnicity and level of family\/patient deprivation (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 3 studies), were associated with loss of ambulation. Treatment with ataluren (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 2 studies) and eteplirsen (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 3 studies) were associated with prolonged ambulation. Magnetic resonance biomarkers (MRI and MRS) were identified as significant predictors of loss of ambulation (\n                      <jats:italic toggle=\"yes\">n<\/jats:italic>\n                      = 6 studies). In total, 33% of studies exhibited some risk of bias.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec specific-use=\"heading-level-1\">\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Our synthesis of predictors of loss of ambulation in DMD contributes to the understanding the natural history of disease and informs the design of new trials of novel therapies targeting this heavily burdened patient population.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230220","type":"journal-article","created":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T11:02:06Z","timestamp":1713870126000},"page":"579-612","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":25,"title":["Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis"],"prefix":"10.1177","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5758-7151","authenticated-orcid":false,"given":"E.","family":"Landfeldt","sequence":"first","affiliation":[{"name":"IQVIA, Stockholm, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Alem\u00e1n","sequence":"additional","affiliation":[{"name":"University of Ottawa","place":["Canada"]},{"name":"University of Ottawa","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Abner","sequence":"additional","affiliation":[{"name":"IQVIA, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Zhang","sequence":"additional","affiliation":[{"name":"PTC Therapeutics Sweden AB, Askim, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Werner","sequence":"additional","affiliation":[{"name":"PTC Therapeutics Germany GmbH, Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Tomazos","sequence":"additional","affiliation":[{"name":"PTC Therapeutics Inc, South Plainfield, NJ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Ferizovic","sequence":"additional","affiliation":[{"name":"IQVIA, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"University of Ottawa","place":["Canada"]},{"name":"University of Freiburg","place":["Germany"]},{"name":"University of Ottawa","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kirschner","sequence":"additional","affiliation":[{"name":"University of Freiburg","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,4,22]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)07815-7"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10654-020-00613-8"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22758"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.2011.02022.x"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","unstructured":"WilliamsK BueschK AcasterS Symptoms and impacts of nonsense mutation Duchenne muscular dystrophy at different stages of ambulation. 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