Research Initiatives - OPTIMIZE DMD

Publications under OPTIMIZE DMD Consortium

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Recent Duchenne Muscular Dystrophy Publications by OPTIMIZE DMD Members and Ambassadors on PubMed

Evaluation of a serum protein signature as monitoring biomarker for Duchenne muscular dystrophy in a long-term clinical trial with corticosteroids July 14, 2026
CONCLUSIONS: These findings support the utility of serum protein signatures as objective, quantitative tools for monitoring disease progression and treatment response in DMD during clinical visits and clinical trials.
Expanding vamorolone treatment access for Canadians with Duchenne muscular dystrophy July 13, 2026
No abstract
Navigating sexual health, fertility, and adult wellness in individuals with Duchenne muscular dystrophy: Current standards of care and future directions July 13, 2026
Many adolescents and young adults with Duchenne Muscular Dystrophy (DMD) face challenges related to sexuality, relationships, and fertility, which can negatively impact their quality of life. Current clinical guidelines emphasize the need for healthcare providers to address these aspects. Yet, there remains a lack of robust data regarding the implications of DMD on sexual and […]
Cardiac Safety Outcomes in Delandistrogene Moxeparvovec Clinical Trials for Duchenne Muscular Dystrophy with Up to 5 Years of Follow-up July 1, 2026
CONCLUSION: Results from delandistrogene moxeparvovec trials with 1 to 5 years of follow-up suggest a manageable cardiac safety profile in this study population of predominantly younger, ambulatory patients with DMD who had no signs of persistent treatment-related cardiac injury.
U7snRNA-mediated skipping of intron-derived pseudoexons restores full-length <em>DMD</em> expression in patient-derived cell lines June 3, 2026
X-linked Duchenne muscular dystrophy (DMD) is caused by pathogenic variants of the DMD gene that result in absent or significantly altered dystrophin expression. Deep intronic mutations within the DMD locus account for 1%-7% of all DMD patients. These are typically point mutations that create splice acceptor (SA) or splice donor (SD) sites, resulting in the […]
Assessing movement quality in individuals with Duchenne muscular dystrophy utilizing accelerometry: Comparisons with healthy controls June 2, 2026
Duchenne muscular dystrophy (DMD) is characterized by progressive decline in skeletal muscle function leading to loss of ambulation and premature cardiopulmonary failure. The ability to monitor declines in skeletal muscle function in a free-living setting would be advantageous. Prior studies have utilized accelerometer measures of movement quantity (e.g., counts per minute, fraction of activity time), […]
Fatal Fat Embolism Syndrome Without Recognized Fracture in Patients With Duchenne Muscular Dystrophy: Two Case Reports June 1, 2026
CONCLUSIONS: These cases underscore the risk of FES in patients with DMD without apparent preceding injury.
Vamorolone for Duchenne Muscular Dystrophy: A Cross-Trial Efficacy Comparison With Classic Corticosteroids From the FOR-DMD Trial May 27, 2026
BACKGROUND AND OBJECTIVES: Vamorolone demonstrated similar efficacy for Duchenne muscular dystrophy (DMD) compared with prednisone in a 24-week exploratory analysis and may reduce key side effects compared with classic corticosteroids. In this study, we compare the efficacy and anthropometric effect of vamorolone 6 mg/kg/d with prednisone 0.75 mg/kg/d and deflazacort 0.9 mg/kg/d in steroid-naïve boys […]
Predicting Functional Decline in Duchenne Muscular Dystrophy: Advancing Trial Readiness and Patient Counseling May 26, 2026
No abstract
Optimizing Care for Growth and Puberty in Duchenne Muscular Dystrophy: A Survey of Clinical Practice in the OPTIMIZE DMD Consortium May 24, 2026
INTRODUCTION/AIM: Optimizing Management of Endocrine Complications in Duchenne Muscular Dystrophy (OPTIMIZE DMD) is an international consortium of clinicians created to advance endocrine and bone clinical care in DMD. The aim of this study was to better understand current views and practices regarding investigation and management of growth and puberty concerns in individuals with DMD, relative […]
Outcomes of Phentermine-Topiramate in Children Living with Duchenne Muscular Dystrophy May 18, 2026
CONCLUSION: Treatment with PHEN/TPM in a small group of children with DMD and obesity was associated with clinically relevant reductions in measures of obesity and was generally well-tolerated with no significant adverse cardiac effects observed during extended follow-up. These findings support the potential use of PHEN/TPM as a weight management option in carefully selected individuals […]
Vamorolone Safety, Pharmacokinetics, and Exploratory Efficacy in Duchenne Muscular Dystrophy: A Phase II, Nonrandomized, Multiple-Dose Study in 2-<4-Year-Old Boys May 15, 2026
BACKGROUND AND OBJECTIVES: Vamorolone is a dissociative corticosteroid (CS) approved by the US Food and Drug Administration in 2023 for treating Duchenne muscular dystrophy (DMD). This study evaluated the safety, tolerability, and pharmacokinetics (PK) of vamorolone in young boys with DMD; exploratory objectives included efficacy and patient-reported outcomes.
Generation of an induced pluripotent stem cell line (NCHi026-A) from a patient with a partial deletion of exon 55 in the DMD gene May 7, 2026
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder disease which is characterized by progressive muscle degeneration or weakness due to the loss of functional dystrophin expression. For use as a cell-based disease model, we generated an induced pluripotent stem cell (iPSC) line (NCHi026-A) from fibroblasts derived from a skin biopsy of a 13-year-old patient […]
Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies May 1, 2026
Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function. To study histopathological changes, we used Visium spatial transcriptomics to profile skeletal muscle biopsies of […]
Moving beyond puberty: Listening to lived experience to expand sexual and reproductive healthcare for adults with muscular dystrophy April 21, 2026
Youth and adults with muscular dystrophy (MD) face sexual and reproductive healthcare barriers shaped by the physical, social, and emotional impacts of a progressive neuromuscular condition. Despite sexual health being central to well-being, it remains understudied, as the needs of disabled individuals are often overlooked due to misconceptions and false narratives of disinterest. To address […]
Vertebral fractures and muscle function in glucocorticoid-treated individuals with Duchenne muscular dystrophy: a cohort study April 16, 2026
CONCLUSION: Our results suggest that ambulatory status and functional scores alone may not be reliable predictors for developing VFs and confirm the association with known risk factors, such as early initiation of glucocorticoid therapy and low BMD Z-scores, highlighting the need to guarantee a careful surveillance of possible VFs from the time of glucocorticoid initiation.
Identification of novel protein biomarkers correlating with both cardiac and skeletal muscle indices in duchenne muscular dystrophy April 15, 2026
BackgroundDuchenne muscular dystrophy (DMD) is marked by cardiac and skeletal myopathy with disparate onset and progression suggesting distinct pathophysiologies. Nontargeted proteomics may elucidate the different disease pathways underlying skeletal muscle and cardiomyopathy progression and identify proteins that improve DMD risk stratification.Methods and resultsSixty subjects were enrolled; 56 underwent cardiac magnetic resonance to determine left ventricular […]
Health Care Providers' Practices and Perspectives on Discussing Life Expectancy With Patients With Duchenne Muscular Dystrophy and Their Caregivers April 13, 2026
CONCLUSIONS: Overall, data suggest that the discussion surrounding life expectancy is a fluid process that is different for every family and should be revisited over time. Similarly, it appears there is a wide variety in how/when providers choose to discuss life expectancy - a process that may benefit from standardization across physicians, given parents' frequent […]
Advancements from the EVOLVE study for assessing real-world experience with eteplirsen, golodirsen and casimersen for the treatment of DMD April 10, 2026
Aim: Eteplirsen, golodirsen and casimersen are phosphorodiamidate morpholino oligomers (PMOs) that have received, based on biomarker data, accelerated approval from the US FDA for the treatment of Duchenne muscular dystrophy (DMD) in patients with pathogenic variants amenable to 51, 53 and 45 exon skipping, respectively. The objectives of this study were to describe patient demographic […]
Caring for Gender Diverse Youth With Duchenne Muscular Dystrophy: A Multisite Case Series April 10, 2026
CONCLUSIONS: This international case series highlights delayed gender identity disclosure, complex hormonal decision-making, and the importance of coordinated, affirming, interdisciplinary care for TGD individuals with DMD. As survival in DMD improves, comprehensive neuromuscular care must address psychosocial well-being alongside physical health.