Observational studyPloS one2019
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Observational study in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT02255552 (An Open-Label, Multi-Center, Study With a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy), which is not on this map. Cited by 44 papers, 1 of them a synthesis that pooled 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.
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.
An Open-Label, Multi-Center, Study With a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy
Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.Cell reports. Medicine · 2025Trial
- 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
- A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.Journal of neuromuscular diseases · 2022Trial
- Upper limb disease evolution in exon 53 skipping eligible patients with Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2021Trial
- Trial
- Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial.Journal of neuromuscular diseases · 2021Trial
- Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.Neurology · 2020Trial
- 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
- Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.Developmental medicine and child neurology · 2025Article
- Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy.Annals of clinical and translational neurology · 2025Article
- DG9 boosts PMO nuclear uptake and exon skipping to restore dystrophic muscle and cardiac function.Nature communications · 2025Article
- Nucleic Acid Therapy for the Skin.The Journal of investigative dermatology · 2025Review
- Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy.PloS one · 2025Article
- Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status.Frontiers in genetics · 2025Article
- Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.Orphanet journal of rare diseases · 2024Article
- The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.Journal of neuromuscular diseases · 2024Article
- The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.Journal of neuromuscular diseases · 2024Article
- Systemic administration of the antisense oligonucleotide NS-089/NCNP-02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial.Neuropsychopharmacology reports · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
27 authors.
Funding
Abstract
introductionThe aim of this international collaborative effort was to report 36-month longitudinal changes using the 6MWT in ambulant patients affected by Duchenne muscular dystrophy amenable to skip exons 44, 45, 51 or 53. MATERIALS AND
methodsOf the 92 patients included in the study, 24 had deletions amenable to skip exon 44, 27 exon 45, 18 exon 51, and 28 exon 53. Five patients with a single deletion of exon 52 were counted in both subgroups skipping exon 51 and 53.
resultsThe difference between subgroups amenable to skip different exons was not significant at 12 months but became significant at both 24 (p≤0.05) and 36 months (p≤0.01). DISCUSSION: Mutations amenable to skip exon 53 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had better results both at baseline and at follow up. Deletions amenable to skip exon 45 were associated with a more variable pattern of progression. Single exon deletions were more often associated with less drastic changes but this was not always true in individual cases.
conclusionOur results confirm that the progression of disease can differ between patients with different deletions, although the changes only become significant from 24 months onwards. This information is relevant because there are current clinical trials specifically targeting patients with these subgroups of mutations.
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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.