ArticleHuman mutation2015
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02069756 (The Duchenne Registry), which is not on this map. Cited by 427 papers, 4 of them syntheses 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.
The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network)
Who cites it
427 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Efficacy of delandistrogene moxeparvovec on Duchenne muscular dystrophy: a systematic review and meta-analysis.Human genetics · 2025Pooled it
- Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A Systematic Review.Paediatric drugs · 2024Pooled it
- Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis.Journal of neuromuscular diseases · 2024Pooled 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
- Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy.Scientific reports · 2024Trial
- Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.Journal of neuromuscular diseases · 2024Trial
- Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study.Journal of neuromuscular diseases · 2023Trial
- FDA-approved antisense oligonucleotide therapies for duchenne muscular dystrophy: current status and future outlook.RNA biology · 2026Review
- Deletion of Cipc promotes regenerative myogenesis in mdx mice and is associated with increased myogenin expression.Histochemistry and cell biology · 2026Article
- Mutational Spectrum of DMD Gene Variants and Cascade Screening Outcomes in the Central-Eastern Black Sea Region of Türkiye: A Single-Centre Retrospective Study.Molecular biology reports · 2026Article
- Engineering suppressor tRNAs for effective treatment of Duchenne muscular dystrophy.Science advances · 2026Article
- Timing matters: Exon skipping therapy is most effective when initiated early in a mouse model of Duchenne muscular dystrophy.Molecular therapy. Nucleic acids · 2026Article
- The Impact of Clinical Trial Participation on Quality of Life in Duchenne Muscular Dystrophy.Pharmaceutical medicine · 2026Article
- Status of Clinical Care of Duchenne Muscular Dystrophy: Global Perspective and Situation in India.Indian journal of pediatrics · 2026Review
- Characterization of Dystrophin-Related Syndromes: Carriers, DMD, and BMD.Muscles (Basel, Switzerland) · 2026Review
- An antisense method for efficient exon skipping and its application to Duchenne muscular dystrophy.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- [Construction of a genotype-phenotype database and machine learning models for pseudohypertrophic muscular dystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Four new mouse models of Duchenne muscular dystrophy with clinically relevant exon deletions in the human DMD gene.Disease models & mechanisms · 2026Article
- Engineered exosomes improve myocardial cell membrane integrity and heart function in dystrophic cardiomyopathy.Clinical and translational medicine · 2026Article
367 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
61 authors.
Funding
Abstract
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).
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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.