Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges
Rattachement africain : us, pt, ca, gb, de, be, cz, se, nz, it. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Abstract Background Spinal muscular atrophy (SMA), a rare neurodegenerative disorder with an estimated prevalence of 1 in 14,300 live births and is the leading genetic cause of mortality in infants and children. Since the approval of new disease-modifying treatments (DMTs; nusinersen (Spinraza) in 2017, onasemnogene abeparvovec-xioi (Zolgensma) in 2020, and oral risdiplam (Evrysdi) in 2021), studies have reported changes in disease progression. This retrospective cohort study analyzed six SMA registries within the TREAT-NMD network, selected via feasibility assessment. These registries comprise data from nine European countries: three clinician-based registries (Belgium, Czech Republic plus Slovakia, Sweden) and three patient-based registries (Germany plus Austria, Spain, United Kingdom plus Ireland) covering the period spanning April 2008 and May 2023. Results Among 2,188 SMA patients with genetically confirmed 5q SMA, the most common SMA subtype was type 2 (SMA2; n = 914, 41.8%) followed by types 3 (SMA3; n = 779, 35.6%) and 1 (SMA1; n = 432, 19.7%). Treatment with at least one DMT was reported among 1,321 (60.4%) of patients and increased over time; nusinersen was the most common DMT ( N = 1,003; 75.9%) followed by risdiplam ( N = 403; 30.5%) and onasemnogene ( N = 101; 7.6%). Among treated patients with SMA1, SMA2, and SMA3, best functional status reported was “sitter” for 36.6%, 60.9%, and 5.3%, and “walker” for 12.0%, 24.6%, and 87.8%, respectively. For SMA1 and SMA2, best motor milestone reported was “sit without support” for 27.2% and 38.0%, and “roll onto side” for 18.5% and 2.0%; for SMA3, “climb stairs” was reported for 63.4% and “walk 10 metres without assistance” reported for 19.3%. Missingness of functional status and motor milestone among patients with SMA1, SMA2, and SMA3 was lower among those treated (27.9%, 8.5%, and 5.5%) as accounted for almost all never treated (100%, 97.8%, and 100%). Conclusions Functional status and motor milestones were well captured after treatment but rarely reported before treatment or in patients who were never treated, limiting evaluation of treatment related changes. Areas of improvement for registry data quality have been identified to reduce data missingness, increase standardisation, and consequently enhance their ability to inform regulatory decision making.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges
- Date Crossref
- 05/08/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Aetion (United States) pays non établi dans la noticeEntreprise
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Freelancer (Portugal) pays non établi dans la noticeEntreprise
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University of British Columbia pays non établi dans la noticeUniversité ou école supérieure
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Academic Health Science Network North East and North Cumbria pays non établi dans la noticeOrganisation à but non lucratif
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Friedrich Baur Stiftung pays non établi dans la noticeInstitution
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Ludwig-Maximilians-Universität München pays non établi dans la noticeUniversité ou école supérieure
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Sciensano (Belgium) pays non établi dans la noticeEntreprise
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Queen Fabiola Children's University Hospital Friedrich-Baur-Institute at the Department of Neurology pays non établi dans la noticeÉtablissement de santé
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University Hospital in Motol Pediatric Neurology pays non établi dans la noticeÉtablissement de santé
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Newcastle upon Tyne Hospitals NHS Foundation Trust pays non établi dans la noticeÉtablissement de santé
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Newcastle University The John Walton Muscular Dystrophy Research Centre pays non établi dans la noticeUniversité ou école supérieure
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Sahlgrenska University Hospital pays non établi dans la noticeÉtablissement de santé
Aetion (United States), Freelancer (Portugal) et University of British Columbia, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.