October 22, 2014
The 204th European Neuro Muscular Centre (ENMC) workshop on biomarkers aimed to increase international collaboration and harmonization on research programs in the field of biomarker discovery and development for use in the field of rare diseases. Biomarkers are used to evaluate disease progression — particularly relevant to chronic and progressive rare diseases — and the effect of drugs on disease evolution during clinical trials. In the workshop report published in Neuromuscular Disorders, Ferlini et al. highlight the recent progress made on biomarker research in Duchenne muscular dystrophy (DMD), illustrating current international collaborative efforts. The multidisciplinary participants acknowledged the need to further pool resources to increase patient data and biological sample collection in order to validate clinical findings.
Presentations were given from the research, industrial and regulatory points of view to highlight biomarker uses. Participants expressed the necessity to develop guidelines to harmonize and regulate biomarker interpretation and application in order to satisfy product registration requirements. Patient organizations emphasized the need for patient and parent education, as well as professional training to understand the role of biomarkers in DMD therapeutic investigations. DMD registry representatives highlighted the importance of developing standard operating procedures (SOP) to collect patient data and biological samples. Innovative technologies to develop biomarkers were presented to illustrate methods adapted to DMD.
Participants agreed on the need to develop further collaborative programs to share data between US and EU projects in order to optimize data and method exploitation for biomarker identification and validation. The authors report that lists of biomarkers for DMD will be drawn up and a DMD biomarker database should be set up. Finally, discussions will be conducted with regulatory bodies to establish biomarker regulation.