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Background <p>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.</p> Results <p>Among 2,188 SMA patients with genetically confirmed 5q SMA, the most common SMA subtype was type 2 (SMA2; <i>n</i> = 914, 41.8%) followed by types 3 (SMA3; <i>n</i> = 779, 35.6%) and 1 (SMA1; <i>n</i> = 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 (<i>N</i> = 1,003; 75.9%) followed by risdiplam (<i>N</i> = 403; 30.5%) and onasemnogene (<i>N</i> = 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%).</p> Conclusions <p>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.</p>

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Use of European registries to characterise the changing landscape of disease progression and treatment of spinal muscular atrophy (SMA): opportunities, pitfalls and challenges

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  • 发表日期：

    2026年8月5日

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  • Nicolas Deltour,
  • Seung Yeon Lee,
  • Elizabeth M. Garry,
  • Liza R. Gibbs,
  • Shane McElwee,
  • Renee M. Sajedian,
  • Emmanuelle Jacquot,
  • Siyana Kurteva,
  • Anabel Ferreras,
  • Annie Poll,
  • Ben Porter,
  • Rhian Davies,
  • Jack Kennedy,
  • Maggie C. Walter,
  • Simone Thiele,
  • Marlène Jagut,
  • Marjan Cosyns,
  • Liesbeth de Waele,
  • Nicolas Deconinck,
  • Jana Haberlová,
  • Lenka Mokrá,
  • Maria Grazia Cattinari,
  • Eduardo F. Tizzano,
  • Chiara Marini-Bettolo,
  • Lindsay Murphy,
  • Anne-Berit Ekström,
  • Miriam Rodrigues,
  • Anna Ambrosini,
  • Victoria Hodgkinson,
  • Michela Guglieri,
  • Mencia de Lemus Belmonte,
  • Kieran C. Breen,
  • Laurent Servais,
  • Aurore Daron,
  • Stephanie Delstanche,
  • Laura Vanden Brande,
  • Alain Maertens de Noordhout,
  • Stéphanie Paquay,
  • Van den Bergh,
  • Vinciane Van Parys,
  • Nicolas Dubuisson,
  • Gauthier Remiche,
  • Florence Christiaens,
  • Jonathan Baets,
  • Alicia Alonso-Jimenez,
  • Diane Beysen,
  • Véronique Bissay,
  • Nathalie Smeets,
  • Karine Pelc,
  • Katrien De Braekeleer,
  • Jan De Bleecker,
  • Arnaud Vanlander,
  • Sarah Herdewyn,
  • Kristl Claeys,
  • Geertrui Peirens,
  • Philip Van Damme,
  • Anna-Karin Kroksmark,
  • Olesja Parmová,
  • Lenka Juříková,
  • Kryštof Prášil,
  • Neil Bennett

摘要

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.