225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands

On 18–20 November 2016, the 225th ENMC Workshop on ‘A global FSHD Registry framework’ took place in Heemskerk, the Netherlands. Twenty-two participants from 11 different countries gathered, including clinicians, researchers, policy makers and representatives from patient advocacy groups and industry. Facioscapulohumeral muscular dystrophy (FSHD) is an inherited muscle disorder. Expansion of our knowledge on the (epi)genetic mechanism underlying FSHD has led to advances in identifying (targeted) therapeutic strategies. Consequently it is now important to develop a ‘clinical trial toolbox’, consisting of patient registries, biomarkers and clinical outcome measures to ensure resources are utilized effectively The wide phenotypic expression in rare diseases, such as FSHD, means that patient registries are particularly important for clinical trial readiness. The aims of this workshop were to analyze the experience and results of the existing FSHD patient registries, update the Treat-NMD recommended dataset for FSHD, increase collaboration among established research groups and patient advocacy organizations and create the foundation on which to establish a global registry for FSHD.