ArticleScientific reports2021
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- AAV-mediated gene transfer of a novel microdystrophin ameliorates pathology and enhances muscle function in a mouse model of DMD.Molecular therapy. Nucleic acids · 2026Article
- Myocardial injury in Duchenne muscular dystrophy: assessment via cardiac magnetic resonance intra-voxel incoherent motion.Heart and vessels · 2026Article
- A Population Pharmacokinetic Model to Inform Extension of the Eteplirsen Dosing Regimen Across the Broad DMD Population.CPT: pharmacometrics & systems pharmacology · 2025Article
- Parental Preferences for Expanded Newborn Screening: What Are the Limits?Children (Basel, Switzerland) · 2023Article
- Estimated costs for Duchenne muscular dystrophy care in Brazil.Orphanet journal of rare diseases · 2023Article
- Antisense oligonucleotides: a novel Frontier in pharmacological strategy.Frontiers in pharmacology · 2023Review
- Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2023Review
- Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.Prenatal diagnosis · 2022Article
- Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Gene Therapy for Duchenne Muscular Dystrophy: Unlocking the Opportunities in Countries in the Middle East and Beyond.Journal of neuromuscular diseases · 2022Article
- Walking alone milestone combined reading-frame rule improves early prediction of Duchenne muscular dystrophy.Frontiers in pediatrics · 2022Article
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne Muscular Dystrophy (DMD) is a lethal progressive muscle-wasting disease. New treatment strategies relying on DMD gene exon-skipping therapy have recently been approved and about 30% of patients could be amenable to exon 51, 53 or 45 skipping. We evaluated the spectrum of deletions reported in DMD registries, and designed a method to screen newborns and identify DMD deletions amenable to exon 51, 53 and 45 skipping. We developed a multiplex qPCR assay identifying hemi(homo)-zygotic deletions of the flanking exons of these therapeutic targets in DMD exons (i.e. exons 44, 46, 50, 52 and 54). We conducted an evaluation of our new method in 51 male patients with a DMD phenotype, 50 female carriers of a DMD deletion and 19 controls. Studies were performed on dried blood spots with patient's consent. We analyzed qPCR amplification curves of controls, carriers, and DMD patients to discern the presence or the absence of the target exons. Analysis of the exons flanking the exon-skipping targets permitted the identification of patients that could benefit from exon-skipping. All samples were correctly genotyped, with either presence or absence of amplification of the target exon. This proof-of-concept study demonstrates that this new assay is a highly sensitive method to identify DMD patients carrying deletions that are rescuable by exon-skipping treatment. The method is easily scalable to population-based screening. This targeted screening approach could address the new management paradigm in DMD, and could help to optimize the beneficial therapeutic effect of DMD therapies by permitting pre-symptomatic care.
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