Biomarkers in Duchenne and Becker muscular dystrophy

Abstract

The overall aim of this thesis was to improve and facilitate trial design for Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) by studying different types of biomarkers. To this end, the national registry for dystrophinopathy patients in the Netherlands was restructured to better support recruitment of investigator-initiated studies and pharmaceutical trials, and enable post-marketing surveillance. Next, three types of biomarkers (physiological, cardiac ultrasound and muscle MRI) and a biomarker group (circulating) were investigated for different types of context in DMD and BMD. We conclude that future research in BMD should focus finding composite surrogate endpoints (cardiac and skeletal muscle function), as well as the creation of prediction models that include several types of biomarkers.