ArticleJournal of neuromuscular diseases2015
Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.
Article in Journal of neuromuscular diseases, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled 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.
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.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading.Orphanet journal of rare diseases · 2024Pooled it
- Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2024Pooled it
- Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial.Nucleic acid therapeutics · 2022Trial
- Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2021Trial
- Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy.Neurology · 2016Trial
- A Real-World Target Trial Emulation of Eteplirsen, Casimersen, and Golodirsen to Evaluate Survival Among Patients with Duchenne Muscular Dystrophy.Advances in therapy · 2026Article
- PPMO-based exon skipping therapy improves respiratory function in theMolecular therapy. Nucleic acids · 2026Article
- Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials.Journal of neuromuscular diseases · 2024Article
- Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.Children (Basel, Switzerland) · 2023Article
- Genetic modifiers of upper limb function in Duchenne muscular dystrophy.Journal of neurology · 2022Article
- Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy.Developmental medicine and child neurology · 2022Article
- Development of a model-based clinical trial simulation platform to optimize the design of clinical trials for Duchenne muscular dystrophy.CPT: pharmacometrics & systems pharmacology · 2022Article
- Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis.PloS one · 2022Review
- Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.Molecular genetics & genomic medicine · 2021Article
- North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.PloS one · 2021Article
- Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy.Journal of neurology · 2020Article
- Latent process model of the 6-minute walk test in Duchenne muscular dystrophy : A Bayesian approach to quantifying rare disease progression.Journal of pharmacokinetics and pharmacodynamics · 2020Article
- Observational
- Article
- DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.Human mutation · 2018Article
Corrections and comments
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Authors and funding
21 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundExon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population.
objectivesOur objective was to compare the clinical and functional statuses of non-ambulant DMD patients theoretically treatable by exon 53 skipping and of DMD patients with other mutations.
methodsWe first compared fifteen non-ambulant DMD patients carrying deletions theoretically treatable by exon 53 skipping (DMD-53) with fifteen closely age-matched DMD patients with mutations not treatable by exon 53 skipping (DMD-all-non-53) then with fifteen DMD patients carrying deletions not treatable by exon 53 skipping (DMD-del-non-53).
resultsWe found that DMD-53 patients had a lower left ventricular ejection fraction, more contractures and they tend to have weaker grips and pinch strengths than other DMD patients. DMD-53 patients lost ambulation significantly younger than other DMD patients. This result was confirmed by comparing ages at loss of ambulation in all non-ambulant DMD patients of the DMD cohort identified in a molecular diagnostic lab.
conclusionsThese prospective and retrospective data demonstrate that DMD-53 patients have clinically more severe phenotypes than other DMD patients.
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Registered trials
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.