Evidence map›Paper›PMID 27343068›Full record

ArticleNeurology2016

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

Luca Bello, Lauren P Morgenroth, Heather Gordish-Dressman, Eric P Hoffman, Craig M McDonald, Sebahattin Cirak, CINRG investigators

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

Article in Neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
109citing papers in PubMed, 4 pooled it
4.9field-weighted citation impact, top 4% 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

109 citing papers in PubMed, 4 syntheses or guidelines pooled it, 166 citations in OpenAlex.

  1. Pooled it
  2. Neurology · 2023
    Pooled it
  3. Pooled it
  4. Characterizing health state utilities associated with Duchenne muscular dystrophy: a systematic review.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2020
    Pooled it
  5. Trial
  6. Trial
  7. Trial
  8. Trial
  9. Trial
  10. Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.Annals of clinical and translational neurology · 2020
    Trial
  11. Trial
  12. Trial
  13. Article
  14. Review
  15. Review
  16. Article
  17. Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9.Annals of clinical and translational neurology · 2026
    Observational
  18. Article
  19. Article
  20. Article

49 more citing papers are in PubMed but not listed here.

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

7 authors at 1 institution in 4 countries.

Luca BelloFrom the Children's National Health System (L.B., L.P.M., H.G.-D., E.P.H., S.C.), Washington, DC; Department of Neuroscience (L.B.), University of Padova, Italy; University of California Davis Medical Center (C.M.M.), Sacramento; and Institute of Human Genetics (S.C.), University Children's Hospital, and Center of Molecular Medicine, University of Cologne, Germany.
Lauren P MorgenrothFrom the Children's National Health System (L.B., L.P.M., H.G.-D., E.P.H., S.C.), Washington, DC; Department of Neuroscience (L.B.), University of Padova, Italy; University of California Davis Medical Center (C.M.M.), Sacramento; and Institute of Human Genetics (S.C.), University Children's Hospital, and Center of Molecular Medicine, University of Cologne, Germany.
Heather Gordish-DressmanFrom the Children's National Health System (L.B., L.P.M., H.G.-D., E.P.H., S.C.), Washington, DC; Department of Neuroscience (L.B.), University of Padova, Italy; University of California Davis Medical Center (C.M.M.), Sacramento; and Institute of Human Genetics (S.C.), University Children's Hospital, and Center of Molecular Medicine, University of Cologne, Germany.
Eric P HoffmanFrom the Children's National Health System (L.B., L.P.M., H.G.-D., E.P.H., S.C.), Washington, DC; Department of Neuroscience (L.B.), University of Padova, Italy; University of California Davis Medical Center (C.M.M.), Sacramento; and Institute of Human Genetics (S.C.), University Children's Hospital, and Center of Molecular Medicine, University of Cologne, Germany.
Craig M McDonaldFrom the Children's National Health System (L.B., L.P.M., H.G.-D., E.P.H., S.C.), Washington, DC; Department of Neuroscience (L.B.), University of Padova, Italy; University of California Davis Medical Center (C.M.M.), Sacramento; and Institute of Human Genetics (S.C.), University Children's Hospital, and Center of Molecular Medicine, University of Cologne, Germany.
Sebahattin Cirak
CINRG investigators
Children's National · US

Funding

Clinically Meaningful Outcomes for Duchenne Muscular Dystrophy Therapeutic TrialsR01AR061875 · NIAMS · UNIVERSITY OF CALIFORNIA AT DAVIS · PI MCDONALD, CRAIG M. · 2011 to 2014
$1.3M
NIAMS NIH HHS R01 AR061875
6 · The paper itself

Abstract

objectiveTo correlate time to loss of ambulation (LoA) and different truncating DMD gene mutations in a large, prospective natural history study of Duchenne muscular dystrophy (DMD), with particular attention to mutations amenable to emerging molecular treatments.

methodsWe analyzed data from the Cooperative International Neuromuscular Research Group Duchenne Natural History Study for participants with DMD single- or multi-exon deletions or duplications with defined exon boundaries (n = 186), or small mutations identified by sequencing (n = 26, including 16 nonsense point mutations). We performed a time-to-event analysis of LoA, a strong indicator of overall disease severity, adjusting for glucocorticoid treatment and genetic modifiers.

resultsParticipants with deletions amenable to skipping of exon 44 had later LoA (median 14.8 years, hazard ratio 0.31, 95% confidence interval 0.14-0.69, p = 0.004). Age at LoA did not differ significantly in participants with deletions amenable to exon 45, 51, and 53 skipping, duplications, and small rearrangements. Nonsense mutation DMD also showed a typical median age at LoA (11.1 years), with a few outliers (ambulatory around or after 16 years of age) carrying stop codons within in-frame exons, more often situated in the rod domain.

conclusionsAs exon 44 skipping-amenable DMD has a later LoA, mutation-specific randomization and selection of placebo groups are essential for the success of clinical trials.

Indexed as

AdolescentCodonCodon, NonsenseCohort StudiesDisease ProgressionDystrophinExonsFemaleGait Disorders, NeurologicGene DeletionGene DuplicationGlucocorticoidsHumansKaplan-Meier EstimateMaleMuscular Dystrophy, DuchenneCodonCodon, NonsenseDMD protein, humanDystrophinGlucocorticoids

Identifiers

PMID27343068
PMCPMC4977110
OpenAlexW2470523364

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.