A Real-World, Multicenter Cohort Study on the Natural History of Duchenne and Becker Muscular Dystrophy in Children From Western China

Detailed Description

1. Comprehensive Scientific Rationale and Knowledge Gap

Duchenne Muscular Dystrophy (DMD) is characterized by a highly heterogeneous disease trajectory that is not fully captured by single-domain assessments. While individual milestones of functional decline, such as loss of ambulation or decline in forced vital capacity, are well-established, the dynamic and complex interrelationships between skeletal muscle pathology, systemic fat metabolism, cardiopulmonary function, and real-world functional performance over time remain poorly quantified. This lack of a systems-level, integrated understanding of DMD progression fundamentally limits the ability of clinicians to prognosticate for individual patients, optimally time interventions, and proactively tailor rehabilitation and management plans.

Existing predictive models often rely on a limited set of functional or genetic parameters, failing to fully integrate the multi-systemic, physiological remodeling that occurs as the disease evolves. The central rationale for this study is that a more robust and clinically actionable understanding of progression can be achieved by synchronously capturing and integrating high-dimensional data across multiple physiological domains. Specifically, the detailed analysis of body composition-including the progressive atrophy of specific muscle groups, the patterns of ectopic fat infiltration within muscles and organs, and shifts in visceral adipose tissue distribution-is hypothesized to contain rich information reflective of the underlying molecular pathophysiology. We posit that the simultaneous longitudinal analysis of these compositional changes, in concert with traditional functional measures and advanced cardiopulmonary imaging, will reveal novel, synergistic biomarkers of disease progression that are not apparent when these domains are studied in isolation.

This study is designed to address a critical knowledge gap: the system-level mapping of how different organ systems deteriorate in relation to one another in DMD. The evidence base generated by this research is expected to be crucial for refining prognostic accuracy, informing the timely adjustment of rehabilitative strategies, and enabling sophisticated patient stratification for future clinical trials. 2. Overall Research Strategy and Multidimensional Data Integration Framework