Evidence map›Paper›PMID 40576143›Full record

ArticleEuropean journal of neurology2025

Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.

Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Emilio Albamonte, Irene Mizzoni, Allan M Glanzman, Simone Morando, Jacqueline Montes, Ilaria Cavallina and 25 more

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Article in European journal of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

5 citing papers in PubMed.

  1. Review
  2. Observational
  3. Article
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  5. Article
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

35 authors.

Giorgia CorattiPediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.ORCID 0000-0001-6666-5628
Francesca BovisDepartment of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.
Marika PanePediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.
Amy PasternakNeuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Emilio AlbamonteThe NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Irene MizzoniUnit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Allan M GlanzmanDepartment of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Simone MorandoCenter of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Jacqueline MontesColumbia University Irving Medical Center, New York, New York, USA.
Ilaria CavallinaSection of Child and Adolescent Neuropsychiatry, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
Sally Dunaway YoungDepartment of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA.
Tina DuongDepartment of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA.
Enrica RolleSection of Child and Adolescent Neuropsychiatry, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
Matthew CivitelloCenter for Experimental Neurotherapeutics, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Roberto De SanctisPediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.
Chiara BravettiCentro Clinico Nemo, U.O.C. Neuropsichiatria Infantile, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Federica RicciSection of Child and Adolescent Neuropsychiatry, Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
Giulio GadaletaNeuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.ORCID 0000-0001-6563-8222
Tiziana MonginiNeuromuscular Unit, Department of Neurosciences 'Rita Levi Montalcini', University of Turin, Turin, Italy.
Maria SframeliDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Maria Carmela PeraPediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.
Sonia MessinaDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Adele D'AmicoUnit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Michela CatterucciaUnit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Noemi BrolattiCenter of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Michio HiranoColumbia University Irving Medical Center, New York, New York, USA.
Zarazuela Zolkipli-CunninghamDivision of Human Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Basil T DarrasNeuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Enrico BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Claudio BrunoCenter of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
John DayDepartment of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA.
Valeria A SansoneThe NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Richard S FinkelCenter for Experimental Neurotherapeutics, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Eugenio MercuriPediatric Neurology Unit, Catholic University of Sacred Heart, Rome, Italy.
iSMAC/international SMA consortium

Funding

BiogenMinistero della Salute GR-2018-12365706Ministero della Salute GR-2021-12374579Ministero della Salute RF-2019-12370334NovartisRoche
6 · The paper itself

Abstract

backgroundThe aim of this international retrospective study was to assess 4-year change using the Hammersmith Functional Motor Scale Expanded (HFMSE) in individuals with type II and III spinal muscular atrophy (SMA) treated with nusinersen and to establish predictors of HFMSE changes.

methodsIndividuals with type II or III SMA, and at least 4 years of nusinersen-only treatment were included. All were assessed using the HFMSE. Age at baseline, sex, motor function, SMN2 copy number, and age of onset were also retrospectively collected. Linear mixed effect models were used to calculate yearly changes and trajectory predictors.

resultsWe included 73 individuals with SMA type II (mean age 8.58 years, SD 7.91, IQR 3.04-10.70) and 111 type III (mean age 7.91 years, SD 17.83, IQR 8.15-34.42). Over 4 years, mean changes were + 4.18 (95% CI: 2.85-5.50) for SMA II and + 1.08 (95% CI: 0.12-2.04) for SMA III. Age (SMA II: -0.34\[-0.51 to -0.17]; SMA III: -0.13\[-0.20 to -0.06], p < 0.001) and baseline HFMSE (SMA II: 1.02\[0.70-1.34]; SMA III: 0.79\[0.71-0.87], p < 0.001) were the strongest predictors of progression, with younger age and higher baseline scores associated with better outcomes. Functional status was only predictive for type III (6.96\[4.26-9.66]).

conclusionOur results confirm that, given a follow up of 4 years, there is a persistent impact of nusinersen on clinical progression that is better observed in younger patients with higher HFMSE scores at baseline, especially during the first 2 years of treatment.

Indexed as

OligonucleotidesSpinal Muscular Atrophies of ChildhoodAdolescentAdultChildChild, PreschoolDisease ProgressionFemaleHumansLongitudinal StudiesMaleRetrospective StudiesSeverity of Illness IndexSurvival of Motor Neuron 2 ProteinTreatment OutcomeYoung AdultnusinersenOligonucleotidesSurvival of Motor Neuron 2 ProteinHammersmith functional motor scale expandedlong term resultsmotor functionnusinersenspinal muscular atrophy

Identifiers

PMID40576143
PMCPMC12203395

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