Research Initiatives - OPTIMIZE DMD

Recent Duchenne Muscular Dystrophy Publications on PubMed

An Assessment of Paediatricians' Knowledge and Perspectives of Duchenne Muscular Dystrophy in Oman March 11, 2026
CONCLUSION: DMD management options are poorly understood by paediatricians in this study. Despite considerable genetic information, diagnostic indicators and disease-modifying medicines were poorly understood. The findings suggest that junior residents need targeted instruction and ongoing professional development to provide comprehensive management for DMD patients.
Zamzam Al Jabri
Duchenne Muscular Dystrophy Presenting as Acute Flaccid Paralysis: Authors' Reply March 9, 2026
No abstract
Souraja Datta
Bioengineered AAV9 and Optimised Microdystrophin Vectors Augment Phenotypic Rescue in a Murine Model of Duchenne Muscular Dystrophy March 7, 2026
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder without an effective cure. Adeno-associated virus (AAV) based gene therapy has improved dystrophin function, with sub-optimal clinical outcomes. We reasoned that a combination of rational engineering of AAV9 capsids modified at the post-translational modification sites, optimal promoter selection, and codon-optimisation of the microdystrophin (μDys) can enhance […]
Mohankumar B Senthilkumar
Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing March 6, 2026
No abstract
Jiancheng Hu
Real-world walking speed as a digital biomarker and outcome measure for clinical trials-a systematic review, regulatory status and future directions March 5, 2026
CONCLUSION: Despite the potential of wearable devices to enhance drug development and clinical decision-making, real-world walking speed remains insufficiently validated across most conditions because data is missing. The widespread adoption of digital outcomes to assess ambulation will require extensive validation efforts, regulatory pathway adaptations, and improved standardization of devices, algorithms, and study methodologies.
Margaux Poleur
Framing childhood-onset facioscapulohumeral dystrophy: from first symptoms to future trials March 5, 2026
Facioscapulohumeral dystrophy (FSHD) is among the most prevalent hereditary muscle disorders. While symptoms typically manifest during adolescence or early adulthood, a subset of patients experience onset in childhood. This article reviews childhood-onset FSHD, outlining its historical background, genetic mechanisms, epidemiology, clinical features, disease progression, and diagnostic considerations. Furthermore, it summarizes current recommendations for multidisciplinary management […]
Jildou N Dijkstra
Status of Clinical Care of Duchenne Muscular Dystrophy: Global Perspective and Situation in India March 4, 2026
No abstract
Aradhana Rohil
Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication March 3, 2026
CONCLUSION: Prompt recognition and a multidisciplinary approach are critical to minimizing morbidity and supporting recovery.
Michele Tosi
Results of a phase II open-label, multiple-dose study of vamorolone (VBP15-006) in 7- to < 18-year-old boys with duchenne muscular dystrophy March 3, 2026
CONCLUSIONS: Vamorolone demonstrated a consistent safety profile in 7- to < 18-year-old boys with DMD. Switching to 6 mg/kg/day vamorolone appeared to mitigate adrenal insufficiency risk. There was no negative effect on growth, and catch-up growth occurred in previously CS-treated individuals switching to vamorolone.
Hanns Lochmüller
Longitudinal ankle range of motion and functional decline in Duchenne muscular dystrophy March 3, 2026
Contractures limit movement in Duchenne muscular dystrophy (DMD). Ankle contractures due to gastrocnemius (GNM) and/or soleus muscles (SM) shortening are common but the effect of GNM and SM contractures on physical functioning and whether asymmetry (difference left and right) has impact remain unclear.Data from 129 ambulant DMD patients with 496 visits (median 4 visits/patient (IQR:2-5), […]
Evelien Fleerakkers
Randomised trial of Aureobasidium pullulans-produced beta 1,3-1,6-glucans in patients with Duchenne muscular dystrophy: favourable changes in gut microbiota and clinical outcomes indicating their potential in epigenetic manipulation March 2, 2026
CONCLUSION: Beneficial reconstitution of the gut microbiome after Neu REFIX beta-glucan administration and its safety have been confirmed. These outcomes correlating with the anti-inflammatory, anti-fibrotic effects along with increase in dystrophin in skeletal muscle and plasma, reported earlier make us recommend further in-depth exploration on its role in epigenetic manipulation which when found encouraging might […]
Kadalraja Raghavan
Potential Involvement of Ferroptosis in Duchenne Muscular Dystrophy-Associated Cardiomyopathy February 27, 2026
Background/Objectives: Cardiomyopathy (CM) is a leading cause of morbidity and mortality in Duchenne muscular dystrophy (DMD) patients. Ferroptosis, an iron-dependent form of cell death characterized by lipid peroxidation, is implicated in various cardiovascular diseases. However, the role of ferroptosis in DMD-CM remains unexplored. Methods: Here, we used dystrophin and utrophin double-knockout (mdx:utr^(-/-)) mice as a […]
Nadezhda Fefelova
Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review February 27, 2026
Muscle degeneration is the hallmark of muscular dystrophies-genetically heterogeneous disorders traditionally approached through the lens of molecular pathogenesis or symptomatic management in isolation. Here, we present a deliberately interdisciplinary synthesis that bridges molecular genetics, clinical phenotyping, and evidence-based orthopedic decision-making to address a significant critical gap: the lack of genotype-informed, function-oriented frameworks for musculoskeletal complications....
Jan Lejman
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study February 27, 2026
CONCLUSION: These findings provide important evidence to inform clinical management, supporting the recommendation of individualised respiratory monitoring strategies and contributing to the design and interpretation of clinical trials in BMD.
Pietro Riguzzi
Functional and structural pathologies in skeletal muscle of a rat model of Duchenne muscular dystrophy February 26, 2026
CONCLUSIONS: MDR is a preclinical model of DMD that exhibits many translational features of the human disease, including a large dynamic range of muscle decrements, that has high utility for the evaluation of potential therapeutics for DMD.
Young Il Lee
Analysis of adverse event reporting with casimersen: a pharmacovigilance study based on the United States food and drug administration adverse event reporting system database February 26, 2026
CONCLUSION: This study characterized post-marketing adverse event reporting patterns associated with casimersen using FAERS data. By summarizing the preferred term-level reporting distributions, affected organ system categories, and time-to-onset characteristics, the findings provide a descriptive overview of real-world reporting patterns following casimersen use. These results may inform post-marketing pharmacovigilance activities and support hypothesis generation in future […]
Zhenghua Hao
Management of Duchenne Muscular Dystrophy in Clinical Practice: A Survey-Based Study in Spain February 26, 2026
CONCLUSION: These findings reveal a proactive clinical landscape characterized by early diagnosis and high adherence to international pharmacological standards. However, persistent gaps in multidisciplinary access and patient-centered monitoring highlight critical unmet needs. The implementation of a dedicated multidisciplinary framework and standardized management protocols is essential for optimizing the care of patients with DMD.
Carlos Ortez
Pan-immune-inflammation value as a predictor of loss of ambulation in duchenne muscular dystrophy: a retrospective cohort study February 26, 2026
No abstract
Bilge Özgör
Effects of Bisphosphonates on Bone Micro-Architecture of Children With Duchenne Muscular Dystrophy: A Prospective Comparative Study February 26, 2026
CONCLUSION: This relatively long-term study confirms that zoledronic acid and alendronate are beneficial to improve micro-architecture reflected by TBS and aBMD of children or adolescents with DMD.
Songqi Wang
Machine learning for site risk prediction in clinical trials: development, external validation, and operational application in site qualification February 25, 2026
CONCLUSIONS: We developed an operational-ready ML-based tool for site risk prediction, achieving near-perfect accuracy in ATTR-CM with demonstrated cross-disease generalizability in DMD. The tool is designed for integration into SQRA workflows to support CPMs in site selection and SQV decisions. Feature importance consistency (Spearman ρ = 0.905) supports applicability across diverse trial portfolios. However, critical […]
Zhiwen Yang