204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24-26 January 2014, Naarden, The Netherlands.

摘要

The workshop intended to increase cooperative and\udharmonized effort in designing common research plans for\udbiomarker discovery and development, and bridging clinical\udmeasures and biomarker research. A comprehensive overview\udon biomarker research in DMD was presented, highlighting\udsome established and yet unpublished data, and encouraging\uddata sharing and collaboration, which is necessary for\udvalidation of biomarker data in larger cohorts. A highly\udmultidisciplinary group attended the workshop. The focus of\udthe workshop was on Duchenne muscular dystrophy including\udongoing trials, extremely well defined pathomechanisms,\udcurrently available exploratory biomarkers as a prototype forthis field. Nevertheless the output of this workshop is expected\udto be useful for other NMDs. This collaborative EU and USA\udworkshop aimed at establishing a large cooperation in order to\udincrease critical mass, patient data and bio-samples to allow\udrobust biomarker validation.\udThe following sessions were focused on: 1) the need for\udadditional biomarkers for DMD, 2) strategies to identify and\udemploy biomarkers with focus on novel high throughput\udtechnologies, 3) known biomarkers, 4) outcome measures in\udDMD and how biomarkers may be surrogates for outcome\udmeasures, 5) role of modifying factors in DMD, and 6) planning\udthe future for biomarker identification. This last session was\udorganized in concurrent roundtables in order to concretize the\udoutput of the workshop in future actions. The key topics\udconsidered to set up collaborations were registries and data\udsharing, biomarkers in clinical trials and integration with the\udclinical outcome measures and EMA requirement for\udbiomarker regulation.