Research Initiatives - OPTIMIZE DMD

Recent Duchenne Muscular Dystrophy Publications on PubMed

Advancing cardiac monitoring in adult Duchenne muscular dystrophy: longitudinal insights and real-world challenges January 22, 2026
No abstract
Mohammadreza Tabary
Incremental Disease Burden (Healthcare Costs and Resources) of Duchenne Muscular Dystrophy in the US: A Matched Cohort Analysis January 20, 2026
CONCLUSIONS: DMD imposes a substantial cost and healthcare resource burden on patients and the healthcare system. The results suggest a high unmet need that requires the development of novel therapies to treat DMD.
Mena Scavina
Humanin improves bone health in a glucocorticoid-treated mouse model of Duchenne muscular dystrophy January 19, 2026
Duchenne muscular dystrophy (DMD) is a progressive muscle disease for which glucocorticoid (GC) treatment is standard therapy. Patients typically suffer from short stature and osteoporosis, caused by the underlying disease and adverse effects of GCs. We investigated whether the mitochondrial peptide humanin (HNG) could prevent GC-induced growth retardation and osteoporosis in mouse models of DMD. […]
Therése Cedervall
PPMO-based exon skipping therapy improves respiratory function in the mdx mouse model of Duchenne muscular dystrophy January 19, 2026
Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by a deficiency of dystrophin, leading to progressive muscle degeneration and eventually cardiorespiratory failure. Exon-skipping therapies using cell-penetrating peptide-conjugated phosphorodiamidate morpholino oligomers (PPMOs) restore production of a shortened but functional dystrophin protein. Since respiratory insufficiency is the leading cause of morbidity and mortality in […]
Debolina D Biswas
Systematic analysis of the adverse effects of used clinical antisense oligonucleotide drugs in DMD patients based on the FAERS database January 19, 2026
No abstract
Xiao-Fang Zhang
Engineering the MmeFz2-ωRNA system for efficient genome editing through an integrated computational-experimental framework January 19, 2026
Eukaryotic Fanzor proteins are compact, programmable RNA-guided nucleases with substantial potential for genome editing, although their efficiency in mammalian cells remains suboptimal. Here, we present a combinatorial engineering strategy to optimize a representative Fanzor system, MmeFz2-ωRNA. AlphaFold3-powered rational redesign produced a minimized ωRNA scaffold that is 30% smaller while maintaining up to 82.2% efficiency. Synergistic […]
Shangpu Li
Role of Cardiovascular Magnetic Resonance in Diagnosis and Management of Muscular Dystrophies January 18, 2026
Muscular dystrophies encompass a heterogeneous spectrum of inherited myopathies characterized by progressive skeletal muscle degeneration frequently accompanied by life-threatening cardiac involvement. Cardiovascular magnetic resonance (CMR) has become the reference non-invasive imaging modality for the detection, characterization, and longitudinal monitoring of cardiomyopathy involvement across this group of disorders. This state-of-the-art review synthesizes contemporary evidence on the...
Vincenzo Russo
Parkin overexpression attenuates muscle atrophy and improves mitochondrial bioenergetics but not histological features of Duchenne muscular dystrophy in mice January 17, 2026
Duchenne Muscular Dystrophy (DMD) is the most common childhood muscular disorder. Mitochondrial dysfunctions are key disease features of the disease, and strategies that improve mitochondrial health have emerged as promising to slow disease progression. Emerging evidence indicates that impaired/insufficient mitophagy may contribute to the accumulation of mitochondrial dysfunction seen in patients and animal models of […]
Olivier Reynaud
Assessing Delays in Time to Diagnosis of Duchenne Muscular Dystrophy: A Survey of Current Primary Care Practices January 16, 2026
CONCLUSIONS: Clinicians play a crucial role in coordinating care for DMD patients, but there are gaps in standardized screening and diagnosis practices. Improved education for primary care clinicians is necessary to enhance the recognition and management of neuromuscular disorders, facilitating early access to therapies, and improving patient outcomes.
Aravindhan Veerapandiyan
Regenerative Index reveals declining muscle regeneration in paediatric patients with Duchenne muscular dystrophy January 16, 2026
CONCLUSIONS: Using eMHC and IgG immunostaining to calculate RI accurately assesses regeneration despite the variation in histopathologic severity between biopsies. This methodology demonstrated a significant negative correlation between RI and age of DMD boys from 7 to 11 years of age.
Johnathan K Smid
Obestatin Treatment Counteracts Muscle Wasting by Reactivation of Autophagy in Duchenne Muscular Dystrophy January 16, 2026
The mechanisms by which muscular dystrophy-related stress is transduced to the autophagic machinery remain poorly characterized. The formulation of strategies should be based on how disruption of these processes results in the deregulation of signaling pathways that contribute to many pathological effects of the disease. In this study, we investigated the molecular mechanism by which […]
Icía Santos-Zas
Expert consensus on respiratory rehabilitation strategies for Duchenne muscular dystrophy (2026) January 15, 2026
杜氏肌营养不良（DMD）是一种致死性X连锁隐性遗传性肌肉疾病，呼吸系统并发症是其主要死因。为规范DMD患者的呼吸管理，改善生活质量并延长生存期，中华医学会儿科学分会康复学组联合中国罕见病联盟Duchenne/Becker型肌营养不良专业委员会制订“杜氏肌营养不良呼吸康复策略专家共识（2026）”，旨在提供实用的DMD呼吸管理推荐，促进多学科协作诊疗模式的建立与应用，改善患者预后。.
Subspecialty Group of Rehabilitation, the Society of Pediatrics, Chinese Medical Association
Screening for brain-related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener January 14, 2026
AIM: To develop a brief, reliable, and valid screening tool and to provide normative data for the identification of individuals with Duchenne muscular dystrophy (DMD) at risk of brain-related comorbidities.
Ruben Miranda
Muscle meets Lysosomes: emerging strategies in muscular dystrophy January 14, 2026
Duchenne muscular dystrophy (DMD) is caused by the loss of DMD (dystrophin), leading to sarcolemmal fragility and progressive muscle degeneration. Although adeno-associated viral (AAV) microdystrophin (µDMD) therapies have advanced clinically, their benefits remain partial, highlighting the need to identify secondary cellular defects that limit therapeutic efficacy. In our recent study, we demonstrated that lysosomal dysfunction […]
Abbass Jaber
Multiple modes of AFM reveal distinct mechanical properties for dystrophin and utrophin not manifest by small fragments January 14, 2026
Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by the absence of the protein dystrophin. Dystrophin is hypothesized to work as a molecular shock absorber that limits myofiber membrane damage when undergoing reversible unfolding upon muscle stretching and contraction. Here, we report the mechanical characterization of single full-length dystrophin (Dys) molecules using two […]
Cailong Hua
Correction: The rise of rat models for Duchenne muscular dystrophy and therapeutic evaluations January 13, 2026
No abstract
Frederic Relaix
Genotype-Dependent Morpho-Mechanical Profiling of Patient-Derived Human Myotubes on Nanogrooved Substrates January 12, 2026
Muscle disorders such as myofibrillar myopathies and Duchenne muscular dystrophy involve mutations in key cytoskeletal proteins and lead to progressive muscle degeneration. Yet, the mechanical characterization of affected muscle cells has relied mainly on immature or non-human models. Here, we introduce a human in vitro platform based on patient-derived immortalized myoblasts differentiated into myotubes on […]
Raphaël Crépin
Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances January 12, 2026
Muscular dystrophy (MD) comprises a class of genetic conditions characterized by the progressive degeneration and weakness of skeletal muscle. Genetic etiologies differ among the major muscular dystrophies: myotonic dystrophy type 1 (DM1) is linked to CTG repeat expansion in DMPK whereas DM2 is linked to CCTG repeat expansion in CNBP; facioscapulohumeral muscular dystrophy (FSHD1) is […]
Shahid Parwez
Hyperactivity, compulsive-like behaviours, and impaired flexibility in mouse models of Duchenne muscular dystrophy January 11, 2026
X-linked Duchenne muscular dystrophy (DMD), caused by mutations in a gene coding several dystrophin isoforms from independent promoters, is associated with a range of brain-related comorbidities. Intellectual disability is variably expressed depending on the position of the genetic variants, intelligence quotients being negatively correlated with the number of deficient brain dystrophins. However, the genetic basis […]
Faouzi Zarrouki
Bladder dysfunction in Duchenne muscular dystrophy: A narrative review January 11, 2026
CONCLUSIONS: DMD is a progressive muscle disease with urological complications. This review revealed a high prevalence of LUTS, including hesitancy, urgency, and incontinence, along with significant defecation issues. However, limited information is available on UTI, urolithiasis, quality of life, and treatment outcomes for these symptoms. Special attention is warranted for LUTS and bowel function. Multidisciplinary […]
R R Kikkert