ArticleMuscle & nerve2021
Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.
Article in Muscle & nerve, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2024Pooled it
- From Small Data to Big Decisions: How Clinical Pharmacology Shapes Rare Disease Development.Journal of clinical pharmacology · 2026Review
- Application of Model-Informed Approaches in Neuroscience Drug Development and Regulatory Decision-Making.Journal of clinical pharmacology · 2026Review
- State-of-the-Art on Model-Informed Drug Development Approaches for Pediatric Rare Diseases.CPT: pharmacometrics & systems pharmacology · 2025Review
- Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy.Annals of clinical and translational neurology · 2025Article
- Association ofNeurology. Genetics · 2025Article
- Application of model-informed drug development (MIDD) for dose selection in regulatory submissions for drug approval in Japan.Journal of pharmacokinetics and pharmacodynamics · 2025Article
- Model-informed drug discovery and development approaches to inform clinical trial design and regulatory decisions: A primer for the MENA region.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2024Review
- Pediatric Chronic Inflammatory Demyelinating Polyneuropathy: Challenges in Diagnosis and Therapeutic Strategies.Paediatric drugs · 2024Review
- Natural History and Real-World Data in Rare Diseases: Applications, Limitations, and Future Perspectives.Journal of clinical pharmacology · 2022Review
- Prognostic indicators of disease progression in Duchenne muscular dystrophy: A literature review and evidence synthesis.PloS one · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 15 institutions in 1 country.
Funding
Abstract
backgroundQuantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with childhood-onset dystrophinopathy is important for understanding variation in disease progression and may be useful in clinical trial design.
methodsGenetic and clinical data from the Muscular Dystrophy Surveillance, Tracking, and Research Network for 358 males born and diagnosed from 1982 to 2011 were analyzed. LoA was defined as the age at which independent ambulation ceased. Genetic mutations were defined by overall type (deletion/duplication/point mutation) and among deletions, those amenable to exon-skipping therapy (exons 8, 20, 44-46, 51-53) and another group. Cox proportional hazards regression modeling was used to estimate hazard ratios (HRs) and 95% confidence intervals (CIs).
resultsMutation type did not predict time to LoA. Controlling for corticosteroids, Exons 8 (HR = 0.22; 95% CI = 0.08, 0.63) and 44 (HR = 0.30; 95% CI = 0.12, 0.78) were associated with delayed LoA compared to other exon deletions.
conclusionsDelayed LoA in males with mutations amenable to exon-skipping therapy is consistent with previous studies. These findings suggest that clinical trials including exon 8 and 44 skippable males should consider mutation information prior to randomization.
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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.