{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:04:30Z","timestamp":1786115070862,"version":"build-2736575974"},"reference-count":26,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T00:00:00Z","timestamp":1781049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005614","name":"Biogen Inc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010301","name":"Fakultet Medicinskih Nauka, Univerziteta U Kragujevcu","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010301","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012295","name":"NIHR Newcastle Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012295","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015277","name":"Roche UK Ltd","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015277","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000774","name":"Newcastle University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000774","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003776","name":"Newcastle upon Tyne Hospitals NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003776","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.nmd.2026.106465","type":"journal-article","created":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T23:47:53Z","timestamp":1781048873000},"page":"106465","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study"],"prefix":"10.1016","volume":"65","author":[{"given":"Elena","family":"Karkkainen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jess","family":"Page","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Segovia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Simms","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Verdu-Diaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleks","family":"Carver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jassi","family":"Michell-Sodhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Tanner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dionne","family":"Moat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert Muni","family":"Lofra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Marini-Bettolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2026.106465_bib0001","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/s41572-022-00380-8","article-title":"Spinal muscular atrophy","volume":"8","author":"Mercuri","year":"2022","journal-title":"Nat Rev Dis Primers"},{"issue":"3","key":"10.1016\/j.nmd.2026.106465_bib0002","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1016\/j.pcl.2015.03.010","article-title":"Spinal muscular atrophies","volume":"62","author":"Darras","year":"2015","journal-title":"Pediatr Clin North Am"},{"issue":"2","key":"10.1016\/j.nmd.2026.106465_bib0003","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/mus.24497","article-title":"Spinal muscular atrophy: diagnosis and management in a new therapeutic era","volume":"51","author":"Arnold","year":"2015","journal-title":"Muscle Nerve"},{"issue":"7","key":"10.1016\/j.nmd.2026.106465_bib0004","doi-asserted-by":"crossref","first-page":"2222","DOI":"10.3390\/jcm9072222","article-title":"New treatments in spinal muscular atrophy: positive results and New challenges","volume":"9","author":"Messina","year":"2020","journal-title":"J Clin Med"},{"key":"10.1016\/j.nmd.2026.106465_bib0005","author":"Agency"},{"issue":"7","key":"10.1016\/j.nmd.2026.106465_bib0006","doi-asserted-by":"crossref","DOI":"10.1016\/j.jval.2016.09.922","article-title":"Managed access agreements: a new model pathway for the reimbursement of non-oncology drugs in England approved under European adaptive pathways?","volume":"19","author":"Macaulay","year":"2016","journal-title":"Value Health"},{"issue":"2","key":"10.1016\/j.nmd.2026.106465_bib0009","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"10.1016\/j.nmd.2026.106465_bib0010","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","article-title":"Consensus statement for standard of care in spinal muscular atrophy","volume":"22","author":"Wang","year":"2007","journal-title":"J Child Neurol"},{"issue":"8","key":"10.1016\/j.nmd.2026.106465_bib0011","doi-asserted-by":"crossref","first-page":"2839","DOI":"10.3390\/jcm12082839","article-title":"Effectiveness of Nusinersen in type 1, 2 and 3 spinal muscular atrophy: croatian real-world data","volume":"12","author":"Belan\u010di\u0107","year":"2023","journal-title":"J Clin Med"},{"key":"10.1016\/j.nmd.2026.106465_bib0012","unstructured":"Agency E.M. Real-world evidence framework to support EU regulatory decision-making. 2023."},{"issue":"1","key":"10.1016\/j.nmd.2026.106465_bib0013","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s40545-022-00433-z","article-title":"The effect of adding real-world evidence to regulatory submissions on the breadth of population indicated for rare disease medicine treatment by the European Medicines Agency","volume":"15","author":"Jandhyala","year":"2022","journal-title":"J Pharm Policy Pr"},{"issue":"1","key":"10.1016\/j.nmd.2026.106465_bib0014","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1017\/cjn.2024.49","article-title":"A real-world study of nusinersen effects in adults with spinal muscular atrophy type 2 and 3","volume":"52","author":"C\u00f4t\u00e9","year":"2025","journal-title":"Can J Neurol Sci"},{"issue":"1","key":"10.1016\/j.nmd.2026.106465_bib0015","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3233\/JND-230197","article-title":"Real world data - looking beyond motor neurons and motor function measures","volume":"11","author":"Sitas","year":"2024","journal-title":"J Neuromuscul Dis"},{"issue":"2","key":"10.1016\/j.nmd.2026.106465_bib0016","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.nmd.2026.106465_bib0017","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106465_bib0018","doi-asserted-by":"crossref","DOI":"10.1177\/22143602261433509","article-title":"Adult SMA REACH: a UK clinical network and real-world data collection study for adults living with spinal muscular atrophy","author":"Page","year":"2026","journal-title":"J Neuromuscul Dis"},{"issue":"1","key":"10.1016\/j.nmd.2026.106465_bib0019","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1007\/s00415-013-7154-1","article-title":"Mapping the differences in care for 5000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe","volume":"261","author":"Bladen","year":"2014","journal-title":"J Neurol"},{"issue":"6","key":"10.1016\/j.nmd.2026.106465_bib0020","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1002\/mus.25430","article-title":"Revised upper limb module for spinal muscular atrophy: development of a new module","volume":"55","author":"Mazzone","year":"2017","journal-title":"Muscle Nerve"},{"issue":"2","key":"10.1016\/j.nmd.2026.106465_bib0021","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0172346","article-title":"Revised Hammersmith Scale for spinal muscular atrophy: a SMA specific clinical outcome assessment tool","volume":"12","author":"Ramsey","year":"2017","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.nmd.2026.106465_bib0022","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1164\/ajrccm.166.1.at1102","article-title":"ATS statement: guidelines for the six-minute walk test","volume":"166","year":"2002","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.nmd.2026.106465_bib0023","doi-asserted-by":"crossref","DOI":"10.1016\/j.nmd.2025.105421","article-title":"Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data","volume":"52","author":"Richardson","year":"2025","journal-title":"Neuromuscul Disord"},{"issue":"9\u201310","key":"10.1016\/j.nmd.2026.106465_bib0024","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1016\/j.nmd.2008.06.059","article-title":"T.P.1.07 egen classification revisited in SMA","volume":"18","author":"Steffensen","year":"2008","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.nmd.2026.106465_bib0025","doi-asserted-by":"crossref","first-page":"665","DOI":"10.3233\/JND-230211","article-title":"Disease trajectories in the revised Hammersmith scale in a cohort of untreated patients with spinal muscular atrophy types 2 and 3","volume":"11","author":"Wolfe","year":"2024","journal-title":"J Neuromuscul Dis"},{"issue":"5","key":"10.1016\/j.nmd.2026.106465_bib0026","doi-asserted-by":"crossref","first-page":"1920","DOI":"10.3390\/jcm12051920","article-title":"2-Year change in revised Hammersmith scale scores in a large cohort of untreated paediatric type 2 and 3 SMA participants","volume":"12","author":"Stimpson","year":"2023","journal-title":"J Clin Med"},{"issue":"2","key":"10.1016\/j.nmd.2026.106465_bib0027","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0172346","article-title":"Revised Hammersmith Scale for spinal muscular atrophy: a SMA specific clinical outcome assessment tool","volume":"12","author":"Ramsey","year":"2017","journal-title":"PLoS One"},{"issue":"3","key":"10.1016\/j.nmd.2026.106465_bib0028","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1002\/pri.221","article-title":"Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy","volume":"6","author":"Steffensen","year":"2001","journal-title":"Physiother Res Int"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626001331?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626001331?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T00:40:17Z","timestamp":1785976817000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896626001331"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":26,"alternative-id":["S0960896626001331"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106465","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Baseline characterisation of adults living with spinal muscular atrophy in the UK: insight from the Adult SMA REACH Real-World Data Collection Study","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106465","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"106465"}}