Longitudinal proteomic analysis of sera allows to non-invasively monitor disease progression in Duchenne muscular dystrophy


Duchenne muscular dystrophy (DMD) is a lethal neuromuscular disease affecting 1 in 5000 newborn males. It is caused by mutation in the DMD gene causing lack of dystrophin. As disease progresses muscle mass is substituted by fibro-adipose tissue leading to reduced patients motility and death. Muscle biopsies are the major source of information for pathophysiological, interventional proof of concept and dose finding studies. We aimed to study a cohort of DMD patients longitudinally in order to identify serum biomarkers able to non-invasively monitor disease progression and to predict the efficacy of therapies which address different aspects of the disease.


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