Study Highlights Trends, Emerging Innovations in DMD Research

Research in Duchenne muscular dystrophy (DMD) has seen significant growth over the past 2 decades, according to a bibliometric analysis published in Frontiers in Immunology.¹

The study, which examined more than 9000 publications between 2004 and 2023, highlights evolving research trends, key focus areas, and the increasing global collaboration that is shaping the future of DMD research.

There are still challenges in translating these therapeutic advancements into clinical practice | Image credit: kwanchaift – stock.adobe.com

Since 2004, the number of DMD-related studies has steadily increased, with a rapid surge beginning in 2014 and peaking in 2021. Researchers attribute this growth to the rising interest in innovative therapies and precision medicine approaches to improve outcomes for patients with DMD. The US emerged as the global leader in publication output, followed by other major contributors like the Institut National de la Santé et de la Recherche Médicale in France. Among journals, Neuromuscular Disorders and Muscle & Nerve were identified as the most frequently cited, underscoring their influence in the DMD field.

Research Trends and Hotspots Over Time

Recent trends in DMD research include a strong focus on advanced therapeutic strategies, such as gene editing, exon-skipping therapies, and systemic delivery methods for mRNA. According to the analysis, emerging technologies like CRISPR-Cas9 and precision medicine approaches are enabling researchers to target specific genetic mutations within the DMD gene.

“In addition, gene therapy strategies, including CRISPR-Cas9 mediated gene editing and microdystrophin replacement, are being investigated to correct or compensate for the defective gene,” the research authors said.

In DMD, precision medicine aims to tailor treatments based on each patient’s individual genetic, environmental, and lifestyle factors. However, there are still challenges in translating these advancements into clinical practice, particularly due to the genetic complexity of DMD and the need for optimized delivery systems to reach affected tissues effectively. According to the authors, this makes it even more important for research to focus on molecular and cellular pathways affected by dystrophin deficiency—such as inflammation, fibrosis, and muscle regeneration—when developing DMD treatments.

“Continued research into the disease mechanisms and the development of innovative therapeutic approaches will be pivotal in making precision medicine a reality for DMD patients,” the authors said.

The analysis also identified key hotspots in DMD research over time. Early studies focused on muscular dystrophy pathology, transplantation, multiplex ligation-dependent probe amplification, zonula occludens. Meanwhile, current hot topics in DMD include CRISPR, eteplirsen, mitochondria, MRI, cognition, and structural variants.

“These clusters illustrate the evolution of research focus and emerging areas of interest within the field over time,” said the authors.

Common Themes in Popular Studies

The most cited studies in DMD highlight the importance of multidisciplinary care and the integration of emerging therapies to improve patient outcomes. Three key articles published in 2018 collectively underscore the shift in managing DMD by combining cutting-edge genetic and molecular treatments with established care methods.^2-4 These studies provide detailed guidelines for essential and emergency care, hormone and nutrition management, and support for patients as they age, reflecting the increasing focus on helping individuals with DMD live longer, healthier lives.

The cited studies also emphasize the importance of lifelong care plans that include respiratory and cardiac management, glucocorticoid therapy, and orthopedic interventions. They further explore the potential of systemic and localized drug therapies, such as PRO051 and phosphorodiamidate morpholino oligomers, as well as gene-editing technologies like CRISPR.

Across these works, the central goal remains consistent: to enhance muscle function, delay disease progression, and improve quality of life. These findings illustrate a shift in the field toward a multidisciplinary, patient-centered approach that combines cutting-edge innovations with holistic care practices.

References

1. Fang P, Han J, An D, et al. Research hotspots and trends for Duchenne muscular dystrophy: a machine learning bibliometric analysis from 2004 to 2023. Front Immunol. 2024;15:1429609. doi:10.3389/fimmu.2024.1429609
2. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. (2018) 17:251–67. doi: 10.1016/S1474-4422(18)30024-3
3. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. (2018) 17:445–55. doi: 10.1016/S1474-4422(18)30026-7
4. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. (2018) 17:347–61. doi: 10.1016/S1474-4422(18)30025-5