Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study
Treatment in type III reduced the risk of ambulation loss by 50%, extending median ambulation by 12 years, with the greatest benefit in type IIIA. Later onset, female sex and higher SMN2 copy number were also protective but did not modify treatment effect. These findings underscore the value of early treatment and support its broad use to preserve ambulation across clinical subgroups.
Authors
- Riccardo Masson (ORCID: https://orcid.org/0000-0002-9311-452X)
- Adele D’Amico (ORCID: https://orcid.org/0000-0003-2438-2624)
- M Hirano
- Jacqueline Montes (ORCID: https://orcid.org/0000-0002-7357-0819)
- Giorgia Coratti (ORCID: https://orcid.org/0000-0001-6666-5628)
- Sally Dunaway Young (ORCID: https://orcid.org/0000-0001-9322-0608)
- Rafael Rodriguez‐Torres (ORCID: https://orcid.org/0009-0005-3648-0741)
- Federica Ricci (ORCID: https://orcid.org/0000-0003-2019-612X)
- Lorenzo Verriello (ORCID: https://orcid.org/0000-0002-5301-8621)
- Marika PANE
- Tiziana Mongini
- Maria Cristina Scoto
- Gaia Scarpini
- Angela Lucia Berardinelli (ORCID: https://orcid.org/0000-0002-4645-8055)
- Riccardo Zuccarino (ORCID: https://orcid.org/0000-0002-8481-7899)
- Chiara Ticci (ORCID: https://orcid.org/0000-0002-2431-4448)
- Elena Sogus
- Tina D. Duong
- C. Cutrì
- Maria Sframeli
- Sonia Messina
- RS Finkel
- Eugenio Mercuri
- Giulia Ricci
- Zarazuela Zolkipli-Cunningham
- John Day
- Claudio Bruno
- Valeria Ada Sansone
- Elzo Cavalcante
- Valentina Franchino
- Mara Turri
- Massimiliano Filosto
- Lorenzo Maggi
- Elena Pegoraro
- Eustachio D’errico
- Allan Glanzman
- Maria Carmela Pera
- Francesca Bovis
- Amy Pasternak
- Francesco Muntoni
- Basil T Darras
Institutions
- Università Cattolica del Sacro Cuore (IT)
- University of Pisa (IT)
- University of Messina (IT)
- University of Parma (IT)
- St. Jude Children's Research Hospital (US)
- Children's Hospital of Philadelphia (US)
- University of Padua (IT)
- University of Campania "Luigi Vanvitelli" (IT)
- Great Ormond Street Hospital (GB)
- Istituto Giannina Gaslini (IT)
- Agostino Gemelli University Polyclinic (IT)
- National Institute for Health and Care Research (GB)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Ospedale di Bolzano (IT)
- Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT)
- Centro Clinico Nemo (IT)
- Meyer Children's Hospital (IT)
- Institut de Myologie (FR)
- Federico II University Hospital (IT)
- Istituto delle Scienze Neurologiche di Bologna (IT)
- Bambino Gesù Children's Hospital (IT)
- Ospedale Santa Maria della Misericordia di Udine (IT)
- Istituti di Ricovero e Cura a Carattere Scientifico (IT)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University College London (GB)
- University of Turin (IT)
- University of Bari Aldo Moro (IT)
- Columbia University (US)
- University of Brescia (IT)
- University of Genoa (IT)
- Sapienza University of Rome (IT)
- Stanford University (US)
Publication Details
- Journal
- Journal of Neurology Neurosurgery & Psychiatry
- Published
- 2026-01-30
- DOI
- https://doi.org/10.1136/jnnp-2025-337505
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Biogen