{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:48:10Z","timestamp":1790045290183,"version":"4.0.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T00:00:00Z","timestamp":1708300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability. Over the last decade, SMA has dramatically changed thanks to new advances in care and the emergence of disease-specific treatments. RegistrAME is a self-reported specific disease registry with an accurate curation system. It has collected data on SMA patients in Spain since 2015, gathering demographic, clinical, and patient-reported outcome data, all of which are patient-relevant. RegistrAME is part of the TREAT NMD network. This study aims to describe the advantages and disadvantages of a self\u2013reported SMA registry, as well as the different variables of interest in the health status of RegistrAME patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In total, 295 living patients with a confirmed diagnosis of SMA-5q were included (aged 1 to 77 years; mean 20.28). Half of the patients (50.2%) were \u2265\u200916 years old; 22.03% were type 1, 48.47% were type 2, 28.82% were type 3, and 0.7% were type 4. All functional statuses (non-sitter, sitter, and walkers) could be observed in each SMA type. Adult patients harbored the least aggressive SMA types, however, they presented the greatest level of disability. Patients with SMA type 1 had scoliosis surgery about five years earlier than patients with SMA type 2. None of the type 1 patients who achieved ambulation were wheelchair-free outdoors. This was also evident in 62.5% of type 2 walker patients and 44% of type 3 walker patients. Of the SMA type 1 patients, 40% had a gastrostomy (of which 84% had two <jats:italic>SMN2<\/jats:italic> copies). One in five children with SMA type 1 (one to seven years of age) were ventilation-free.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The information provided by RegistrAME in a \u201creal-world\u201d setting allows better management of family expectations, an adequate approach to the disease and patients\u2019 needs, as well as a better understanding of the impact of the disease. It also helps monitor the evolution of care, which will result in the need for updated guidelines.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03071-7","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T14:02:53Z","timestamp":1708351373000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9821-4194","authenticated-orcid":false,"given":"Maria Grazia","family":"Cattinari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menc\u00eda","family":"de Lemus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Tizzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,2,19]]},"reference":[{"issue":"4","key":"3071_CR1","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","volume":"33","author":"SJ Kolb","year":"2015","unstructured":"Kolb SJ, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015;33(4):831\u201346.","journal-title":"Neurol Clin"},{"key":"3071_CR2","doi-asserted-by":"crossref","unstructured":"Lunn MR, Wang, Ching H. Lunn Spinal muscular atrophy.pdf. The Lancet; 2008;371:2120\u20132133; 2008.","DOI":"10.1016\/S0140-6736(08)60921-6"},{"issue":"5","key":"3071_CR3","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1002\/ana.20473","volume":"57","author":"KJ Swoboda","year":"2005","unstructured":"Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, et al. Natural history of Denervation in SMA: relation to Age, SMN2 Copy Number, and function. Ann Neurol. 2005;57(5):704\u201312.","journal-title":"Ann Neurol"},{"issue":"3","key":"3071_CR4","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","volume":"15","author":"B Wirth","year":"2000","unstructured":"Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228\u201337.","journal-title":"Hum Mutat"},{"issue":"3","key":"3071_CR5","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","volume":"28","author":"M Calucho","year":"2018","unstructured":"Calucho M, Bernal S, Al\u00edas L, March F, Vencesl\u00e1 A, Rodr\u00edguez-\u00c1lvarez FJ, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018;28(3):208\u201315.","journal-title":"Neuromuscul Disord"},{"issue":"9","key":"3071_CR6","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1038\/gt.2017.52","volume":"24","author":"K Talbot","year":"2017","unstructured":"Talbot K, Tizzano EF. The clinical landscape for SMA in a new therapeutic era. Gene Ther. 2017;24(9):529\u201333.","journal-title":"Gene Ther"},{"issue":"1","key":"3071_CR7","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1007\/s40120-021-00307-7","volume":"11","author":"E Viscidi","year":"2022","unstructured":"Viscidi E, Juneja M, Wang J, Wang N, Li L, Farwell W, et al. Comparative all-cause Mortality among a large Population of patients with spinal muscular atrophy Versus Matched Controls. Neurol Ther. 2022;11(1):449\u201357.","journal-title":"Neurol Ther"},{"key":"3071_CR8","unstructured":"Commissioner O of the. FDA. FDA.; 2020 [cited 2020 Jul 3]. FDA approves first drug for spinal muscular atrophy. Available from: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-first-drug-spinal-muscular-atrophy."},{"key":"3071_CR9","unstructured":"Commissioner O, of the. FDA. FDA; 2020 [cited 2020 Jul 3]. FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality. Available from: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease."},{"key":"3071_CR10","unstructured":"Commissioner O of the. FDA. FDA.; 2020 [cited 2023 Jan 27]. FDA Approves Oral Treatment for Spinal Muscular Atrophy. Available from: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-oral-treatment-spinal-muscular-atrophy."},{"key":"3071_CR11","unstructured":"EMA, European Medicines A. 2018 [cited 2023 Jan 27]. Spinraza. Available from: https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/spinraza."},{"key":"3071_CR12","unstructured":"EMA, European Medicines A. 2020 [cited 2023 Jan 27]. Zolgensma. 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The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage. Orphanet J Rare Dis. 2018;13(1):176.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"3071_CR22","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1186\/s13023-021-01771-y","volume":"16","author":"A Lusakowska","year":"2021","unstructured":"Lusakowska A, Jedrzejowska M, Kaminska A, Janiszewska K, Grochowski P, Zimowski J, et al. Observation of the natural course of type 3 spinal muscular atrophy: data from the Polish registry of spinal muscular atrophy. Orphanet J Rare Dis. 2021;16(1):150.","journal-title":"Orphanet J Rare Dis"},{"key":"3071_CR23","unstructured":"Mansouri V, Heidari M, Bemanalizadeh M, Azizimalamiri R, Nafissi S, Akbari MG et al. The First Report of Iranian Registry of patients with spinal muscular atrophy. 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All participants provided their informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"ET has received grant support to conduct studies by Ionis\/Biogen and Roche. Serves as consultant of Avexis, Novartis, Biogen, Roche, Cytokinetics, Biologix, PTC. MdL has offered advisory support to Roche in the development of risdiplam. MGC has received support from Roche for attendance to scientific congresses.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"76"}}