Muscular Dystrophy, Duchenne
Recent clinical, regulatory, research and industry developments relating to this disease.
AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial.
Engineered IscB-ωRNA system with expanded target range for base editing.
CRISPR-Based Gene Therapies: From Preclinical to Clinical Treatments.
Gene Therapy for Duchenne Muscular Dystrophy.
Circ-ZNF609 Is a Circular RNA that Can Be Translated and Functions in Myogenesis.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 2 clinical trials expected to report results, the earliest in Q4 2026.
- Q4 2026A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of High Doses of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping
- Q4 2030A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy, Safety, and Tolerability of DYNE-251 Administered Intravenously in Ambulatory Male Participants 4 to 18 Years of Age With Duchenne Muscular Dystrophy Amenable to Exon-51 Skipping
Clinical MilestonesViewHide
- 2026-05-27A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy, Safety, and Tolerability of DYNE-251 Administered Intravenously in Ambulatory Male Participants 4 to 18 Years of Age With Duchenne Muscular Dystrophy Amenable to Exon-51 SkippingResults expected Q4 2030
- 2026-02-27A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of High Doses of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 SkippingResults expected Q4 2026
- 2026-05-27ClinicalA Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy, Safety, and Tolerability of DYNE-251 Administered Intravenously in Ambulatory Male Participants 4 to 18 Years of Age With Duchenne Muscular Dystrophy Amenable to Exon-51 SkippingResults expected Q4 2030
- 2026-03-10ClinicalA Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label ExtensionResults posted
- 2026-02-27ClinicalA Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of High Doses of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 SkippingResults expected Q4 2026
Therapeutic landscape
Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.
Approval — Agamree is indicated for the treatment of Duchenne muscular dystrophy (DMD) in patients a… (2023)
Clinical trials
The current development programme across all trial phases.
Regulatory timeline
Drug regulatory events matched to this condition by indication — EMA.
European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes8
- Muscular Dystrophy, Duchenne3
- Gene Editing2
- Genetic Therapy2
- Cell Proliferation1
- CRISPR-Cas Systems1
- Dependovirus1
- Gene Therapy Agents1
- Muscle Development1
Leading journals6
- Cells1
- Journal of neuromuscular diseases1
- Molecular cell1
- Nature chemical biology1
- Nature medicine1
- Pediatric neurology1
Leading researchers8
- Darton E2
- Mason S2
- McDonald CM2
- Mendell JR2
- Muntoni F2
- Murphy AP2
- Proud C2
- Wandel C2
Affiliations (unnormalised)6
- Center for Gene Therapy2
- Children's Hospital of the King's Daughters2
- Pediatric Neurology Institute2
- Berlin Institute for Medical Systems Biology1
- Center for Genomic Science of1
- Center for Life Nano1
Disease biology
Key proteins & gene products studied in this disease. Number shows shared papers.
Disease profile
A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.
Duchenne muscular dystrophy is an X-linked recessive muscle disease caused by failure to synthesize dystrophin. It is characterized by progressive degeneration and regeneration of muscle fibers, with early proximal weakness, pseudohypertrophy, cardiomyopathy, and increased incidence of impaired mentation. Becker muscular dystrophy is a related disorder with later onset and a slower course.
It is caused by mutations in the DMD gene that codes for dystrophin. The grounding supports a genetic aetiology rather than an acquired cause.
Dystrophin is a structural protein that helps maintain the integrity of the sarcolemma and protects muscle fibers from contraction-induced damage. When dystrophin is absent, muscle-fiber stability and function are compromised, leading to ongoing muscle degeneration. The disease process features cycles of degeneration and regeneration of muscle fibers.
Being male is a major risk factor because the disorder is X-linked recessive. The grounding also supports inherited mutation in the DMD gene as the underlying predisposition.
The supplied grounding does not describe established standard treatment. It does indicate that gene therapy approaches are being investigated, including gene transfer to restore dystrophin expression using adeno-associated viral vectors, and that CRISPR/Cas-based gene editing is an emerging therapeutic strategy for inherited muscle disorders.
AI-generated summary grounded in MeSH and 2 peer-reviewed sources. Informational only — not medical advice. Generated 2026-07-07.
Reference
Authoritative identity, definition & identifiers.
An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.