Myology is a paradigmatic model for scientific multi-disciplinary approach. Among neuromuscular diseases, myotonic dystrophy by its multisystemic pattern and large spectrum, from early infancy to adult life, represents a distinctive example of the need for collaboration between various scientists. During the last decade, my experience has progressively broadened from an adult neurologist and histologist perspective to a translational research contributor. Then, as part of an international preclinical project evaluating new therapeutic component, my current work extends from animal transgenic model characterization and biomarker studies to outcome measures, natural history study and finally QoL assessment. I mainly act as curator and co-coordinator of an international registry which enrols over 2,000 patients from 32 centres. Complementary to this academic work I also developed close contact with patient organizations, discussion with industry, and experience in pharmacovigilance.
Our entire project obviously benefited from the TREAT-NMD expertise.