Practical DMD Course 05: Biomarkers and Imaging in DMD

This course provides an up-to-date and practical overview of the role of biomarkers and imaging techniques in Duchenne Muscular Dystrophy (DMD), highlighting their value in both research and clinical practice. Throughout the course, the different types of biomarkers—genetic, soluble, imaging and digital—are reviewed, together with their ability to monitor disease progression, assess pathophysiological mechanisms and evaluate treatment response. The course explores the relevance of pharmacodynamic and prognostic biomarkers within the context of precision medicine, emphasising how specific genetic variants and molecular profiles may influence the motor, cardiac and cognitive progression of patients with DMD. It also examines the emerging role of microRNAs, inflammatory profiles and omics technologies as tools for a more accurate characterisation of the disease. In addition, the course reviews the main applications of quantitative muscle magnetic resonance imaging (MRI), including the assessment of fat infiltration, oedema, fibrosis and muscle volume loss, as well as the value of muscle ultrasound and digital biomarkers in functional evaluation. By integrating the latest advances in biomarkers and muscle imaging, the course aims to improve clinical monitoring and optimise the design and interpretation of clinical trials in DMD.