Evidence map›Paper›PMID 34857536›Full record

ArticleNeurology2022

Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.

Marianela Schiava, Rachel Amos, Henriette VanRuiten, Michael P McDermott, Williams B Martens, Stephanie Gregory, Anna Mayhew, Elaine McColl, Rabi Tawil, Tracey Willis and 4 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.2field-weighted citation impact, top 46% of its field
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

7 citing papers in PubMed, 6 citations in OpenAlex.

  1. Trial
  2. Trial
  3. Review
  4. Article
  5. Association ofNeurology. Genetics · 2025
    Article
  6. Article
  7. Review
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

14 authors at 1 institution in 1 country.

Marianela SchiavaFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.ORCID http://orcid.org/0000-0002-2709-265X
Rachel AmosFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Henriette VanRuitenFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Michael P McDermottFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Williams B MartensFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Stephanie GregoryFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Anna MayhewFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Elaine McCollFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.ORCID http://orcid.org/0000-0001-8300-3204
Rabi TawilFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Tracey WillisFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.ORCID http://orcid.org/0000-0003-0088-5307
Kate BushbyFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Robert C GriggsFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK.
Michela GuglieriFrom the John Walton Muscular Dystrophy Research Centre (M.S., A.M., K.B., M.G.), Clinical and Translational Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trusts; Great North Children Hospital (R.A., H.V.R.), Newcastle Hospitals NHS Foundation Trusts, UK; Department of Biostatistics and Computational Biology (M.P.M.) and Department of Neurology (M.P.M., W.B.M., S.G., R.T., R.C.G.), University of Rochester Medical Centre, NY; Newcastle University (E.M.); and The Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust (T.W.), Oswestry, UK. michela.guglieri@newcastle.ac.uk.
FOR-DMD Investigators of the Muscle Study Group
Newcastle upon Tyne Hospitals NHS Foundation Trust · GB

Funding

FOR-DMD:Double-blind randomized trial to optimize steroid regimen in Duchenne MDU01NS061799 · NINDS · UNIVERSITY OF ROCHESTER · PI GRIGGS, ROBERT C, GUGLIERI, MICHELA · 2010 to 2019
$13.7M
Biostatistics and Data Management for a Trial of Corticosteroid Regimens in DMDU01NS061795 · NINDS · UNIVERSITY OF ROCHESTER · PI MCDERMOTT, MICHAEL P, TAWIL, RABI · 2010 to 2019
$3.5M
NINDS NIH HHS U01 NS061795NINDS NIH HHS U01 NS061799
6 · The paper itself

Abstract

BACKGROUND AND

objectivesDuchenne muscular dystrophy (DMD) is a pediatric neuromuscular disorder caused by mutations in the dystrophin gene. Genotype-phenotype associations have been examined in glucocorticoid-treated boys, but there are few data on the young glucocorticoid-naive DMD population. A sample of young glucocorticoid-naive DMD boys is described, and genotype-phenotype associations are investigated.

methodsScreening and baseline data were collected for all the participants in the Finding the Optimum Corticosteroid Regime for Duchenne Muscular Dystrophy (FOR-DMD) study, an international, multicenter, randomized, double-blind, clinical trial comparing 3 glucocorticoid regimens in glucocorticoid-naive, genetically confirmed boys with DMD between 4 and <8 years of age.

resultsOne hundred ninety-six boys were recruited. The mean ± SD age at randomization was 5.8 ± 1.0 years. The predominant mutation type was out-of-frame deletions (67.4%, 130 of 193), of which 68.5% (89 of 130) were amenable to exon skipping. The most frequent mutations were deletions amenable to exon 51 skipping (13.0%, 25 of 193). Stop codon mutations accounted for 10.4% (20 of 193). The mean age at first parental concerns was 29.8 ± 18.7 months; the mean age at genetic diagnosis was 53.9 ± 21.9 months; and the mean diagnostic delay was 25.9 ± 18.2 months. The mean diagnostic delay for boys diagnosed after an incidental finding of isolated hyperCKemia (n = 19) was 6.4 ± 7.4 months. The mean ages at independent walking and talking in sentences were 17.1 ± 4.2 and 29.0 ± 10.7 months, respectively. Median height percentiles were below the 25th percentile regardless of age group. No genotype-phenotype associations were identified expect for boys with exon 8 skippable deletions, who had better performance on time to walk/run 10 m ( DISCUSSION: This study describes clinical and genetic characteristics of a sample of young glucocorticoid-naive boys with DMD. A low threshold for creatine kinase testing can lead to an earlier diagnosis. Motor and speech delays were common presenting symptoms. The effects of low pretreatment height on growth and adult height require further study. These findings may promote earlier recognition of DMD and inform study design for future clinical trials

Identifiers

PMID34857536
PMCPMC8793104
OpenAlexW3216091282

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.