Evidence map›Paper›PMID 39392101›Full record

ArticleEuropean journal of neurology2024

Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.

Giorgia Coratti, Francesca Bovis, Maria Carmela Pera, Matthew Civitello, Annemarie Rohwer, Francesca Salmin, Allan M Glanzman, Jacqueline Montes, Amy Pasternak, Roberto De Sanctis and 29 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of neurology, 2024. 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. Article
  2. Review
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  4. Article
  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

39 authors.

Giorgia CorattiPediatric Neurology Unit, Catholic University, Rome, Italy.ORCID 0000-0001-6666-5628
Francesca BovisDepartment of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.
Maria Carmela PeraPediatric Neurology Unit, Catholic University, Rome, Italy.
Matthew CivitelloSt Jude Children's Research Hospital, Memphis, Tennessee, USA.
Annemarie RohwerDepartment of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Francesca SalminNEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Allan M GlanzmanDepartment of Physical Therapy Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jacqueline MontesColumbia University Irving Medical Center, New York, New York, USA.
Amy PasternakNeuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Roberto De SanctisPediatric Neurology Unit, Catholic University, Rome, 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.
Irene MizzoniUnit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
Evelin MilevDepartment of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Maria SframeliDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Simone MorandoCenter of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Emilio AlbamonteNEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
Adele D'AmicoUnit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
Michela CatterucciaUnit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
Noemi BrolattiCenter of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Marika PanePediatric Neurology Unit, Catholic University, Rome, Italy.
Mariacristina ScotoDepartment of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Sonia MessinaDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Jesica Exposito EscuderoNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
Liesbeth De WaeleDepartment of Child Neurology, University Hospital Leuven, Leuven, Belgium.
Michio HiranoColumbia University Irving Medical Center, New York, New York, USA.
Zarazuela Zolkipli-CunninghamDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, 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, Rome, Italy.
Andres Nascimiento OsorioNeuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
Claudio BrunoCenter of Translational and Experimental Myology, Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, Genoa, Italy.
Natalie GoemansDepartment of Child Neurology, University Hospital Leuven, Leuven, Belgium.
Valeria A SansoneNEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, Milan, Italy.
John DayDepartment of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, California, USA.
Giovanni BaranelloDepartment of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Francesco MuntoniDepartment of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.
Richard FinkelDepartment of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.
Eugenio MercuriPediatric Neurology Unit, Catholic University, Rome, Italy.
ISMAC/international SMA consortium

Funding

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

Abstract

background and purposeSpinal muscular atrophy (SMA) is a genetic disorder caused by SMN1 gene mutations. Although studies on available disease-modifying treatments have reported their efficacy and safety, long-term natural history data are lacking for comparison. The aim of this prospective study was to report 4-year changes on the Hammersmith Functional Motor Scale Expanded (HFMSE) in type II and III SMA in relation to several variables such as age, functional status and SMN2 copy number.

methodsThe study involves retrospective analysis of prospectively collected data from international datasets (Belgium, Italy, Spain, USA, UK). HFMSE longitudinal changes were analyzed using linear mixed effect models, examining annualized HFMSE change and its association with variables such as age at baseline, sex, motor function, SMN2 copy number.

resultsIn SMA type II (n = 226), the 4-year mean change was -2.20 points. The largest mean changes were observed in sitters aged 5-14 years and the lowest in those who lost the ability to sit unsupported. In SMA type III (n = 162), the 4-year mean change was -2.75 points. The largest mean changes were in those aged 7-15 years, whilst the lowest were in those below 7 and in the SMA type IIIa subgroup over 15. Age and score at baseline were predictive of 4-year changes.

conclusionsOur findings provide natural history reference data for comparison with long-term follow-up of clinical trials or real-world data, highlighting the need to define patterns of changes in smaller SMA subgroups instead of reporting mean changes across an entire SMA cohort.

Indexed as

Spinal Muscular Atrophies of ChildhoodAdolescentAdultChildChild, PreschoolDisease ProgressionFemaleHumansLongitudinal StudiesMaleProspective StudiesRetrospective StudiesSurvival of Motor Neuron 2 ProteinYoung AdultSMN2 protein, humanSurvival of Motor Neuron 2 ProteinHammersmith Functional Motor Scale Expandedlong‐term resultsmotor functionspinal muscular atrophy

Identifiers

PMID39392101
PMCPMC11555017

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