Evidence map›Paper›PMID 41617535›Full record

ArticleJournal of neurology, neurosurgery, and psychiatry2026

Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study.

Giorgia Coratti, Francesca Bovis, Valentina Franchino, Jacqueline Montes, Valeria Ada Sansone, Sally Dunaway Young, Chiara Cutrì, Amy Pasternak, Maria Carmela Pera, Marika Pane and 38 more

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Article in Journal of neurology, neurosurgery, and psychiatry, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

48 authors.

Giorgia CorattiPediatric Neurology, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy.ORCID http://orcid.org/0000-0001-6666-5628
Francesca BovisUniversity of Genoa, Genoa, Italy.
Valentina FranchinoCentro Clinico NeMO, Milan, Italy.
Jacqueline MontesColumbia University, New York, New York, USA.
Valeria Ada SansoneCentro Clinico NeMO, Milan, Italy.
Sally Dunaway YoungStanford University, Stanford, California, USA.
Chiara CutrìFondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Amy PasternakChildren's Hospital Boston, Boston, Massachusetts, USA.
Maria Carmela PeraPediatric Neurology, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy.
Marika PaneUniversità Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy.
Allan GlanzmanDepartment of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Elena PegoraroDepartment of Neurosciences, University of Padua, Padua, Italy.ORCID http://orcid.org/0000-0002-7740-4156
Tina DuongStanford University, Stanford, California, USA.
Elena SogusDepartment of Neurosciences, University of Padua, Padua, Italy.
Maria SframeliDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Sonia MessinaDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Elzo CavalcanteDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Maria Cristina ScotoDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Adele D'AmicoNeurosciences, Bambino Gesu Pediatric Hospital IRCCS, Rome, Italy.
Rafael Rodriguez-TorresColumbia University, New York, New York, USA.
Tiziana MonginiDepartment of Neurosciences, Università degli Studi di Torino, Turin, Italy.
Lorenzo MaggiFoundation IRCCS Carlo Besta Neurological Institute, Milano, Italy.ORCID http://orcid.org/0000-0002-0932-5173
Michela CocciaCentro Clinico NeMO, Ancona, Italy.
Massimiliano FilostoDepartment of Clinical and Experimental Sciences, NeMO-Brescia Clinical Center for Neuromuscular Diseases, University of Brescia, Brescia, Italy.ORCID http://orcid.org/0000-0002-2852-7512
Riccardo ZuccarinoCentro Clinico NeMO, Trento, Italy.
Riccardo MassonFondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.
Giulia RicciDepartment of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Claudio BrunoCenter of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Lucia RuggieroDepartment of Neurosciences and Reproductive and Odontostomatologic Sciences, Federico II University Hospital, Naples, Italy.ORCID http://orcid.org/0000-0002-7756-9567
Veria VacchianoIRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.
Eustachio D'erricoDepartment of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.
Lorenzo VerrielloNeurology Unit, Department of Neurosciences, University Hospital Santa Maria della Misericordia, Udine, Italy.
Vincenzo NigroDepartment of Precision Medicine, University of Campania Luigi Vanvitelli, Caserta, Italy.
Gaia ScarpiniIRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.
Matteo GaribaldiNeurology Mental Health and Sensory Organs (NESMOS), University of Rome La Sapienza, Rome, Italy.ORCID http://orcid.org/0000-0003-1830-2886
Mara TurriDepartment of Neurology/Stroke Unit, Ospedale di Bolzano, Bolzano, Italy.
Chiara TicciOspedale Pediatrico Meyer, Florence, Italy.
Angela BerardinelliDepartment of Child Neuropsychiatry, Fondazione Istituto Neurologico Nazionale Casimiro Mondino, Pavia, Italy.
Caterina AgostoPadua University Hospital, Padua, Italy.
Federica RicciSC Neuropsichiatria Infantile, Azienda Ospedaliero Universitaria Citta della Salute e della Scienza di Torino, Torino, Italy.
Zarazuela Zolkipli-CunninghamThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Basil T DarrasChildren's Hospital Boston, Boston, Massachusetts, USA.
John DayStanford University, Stanford, California, USA.
Michio HiranoNeurology Department, Columbia University, New York, New York, USA.
Francesco MuntoniDubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Richard S FinkelPediatrics, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Eugenio MercuriPediatric Neurology, Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia, Rome, Italy eugeniomaria.mercuri@unicatt.it.ORCID http://orcid.org/0000-0002-9851-5365
international SMA consortium (ISMAC)

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSpinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by survival motor neuron (SMN1) deletion. While loss of ambulation in SMA type III typically occurs at a median age of 13.4 years, outcomes in the treatment era remain unclear. This study aims to address that gap by investigating ambulation outcomes in individuals with type III receiving disease-modifying therapies.

methodsThis retrospective study analysed prospectively collected international data. Time-dependent Cox models assessed the association between treatment initiation and age at loss of ambulation, adjusting for age at onset, sex, SMN2 copies, birth year and country. Treatment was modelled as a time-dependent covariate to avoid immortal time bias. Descriptive analyses used Mann-Whitney U and χ² tests.

resultsAmong 555 individuals with type III, treatment halved the risk of ambulation loss (HR=0.50), with median loss at 44 vs 32 years in treated and untreated groups. Later onset, ≥4 SMN2 copies and female sex were also protective. The treatment effect was significant in type IIIA (HR=0.34) but not IIIB, with no significant interactions by sex, country or SMN2, though effects remained directionally protective.

conclusionsTreatment 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.

Indexed as

Spinal Muscular Atrophies of ChildhoodWalkingAdolescentAdultAge of OnsetChildChild, PreschoolFemaleHumansMaleRetrospective StudiesSurvival of Motor Neuron 2 ProteinYoung AdultSurvival of Motor Neuron 2 ProteinNEUROMUSCULARSPINAL MUSCULAR ATROTREATMENT OUTCOME

Identifiers

PMID41617535
PMCPMC13151491

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