REGISTRIES AND CARE OF NMD: EP.344 The international GNE myopathy patient registry

Abstract

The GNE myopathy registry is an international, patient reported, disease specific database which provides the neuromuscular community with a valuable, flexible and sustainable resource of disease specific information. The registry can be used to support planning and recruitment for clinical trials, and to capture real-world patient data (including data that may contribute to post marketing surveillance and standards of care). The GNE registry is managed by the John Walton muscular dystrophy research centre (JWMDRC, Newcastle University, UK) and supervised by an international steering committee. The GNE myopathy registry helps to facilitate translational research. The registry is available in 7 languages, collecting data since March 2014 with over 350 participants from 48 countries worldwide. To contribute to the disease understanding by collecting reliable clinical information; facilitating clinical trial readiness and translational research by helping the recruitment of patients into clinical trials; helping to overcome the scarcity of resources and the geographic isolation of patients; informing patients and the GNE myopathy community of latest developments in scientific research and disease management via newsletters. Patient reported data gathered through disease specific questionnaires, GNEM-FAS, quality of life (SF12) and other non-validated questionnaires. The registry has allowed a genotype-phenotype study to be conducted (NCT01417533). Ten newsletters have been produced in 7 languages and distributed to the registry participants and to the neuromuscular community via the TREAT-NMD network. The registry helped to facilitate recruitment for patient advocacy meetings, clinical trials (NCT02736188, NCT02377921) and a natural history study (NCT01784679). The registry has also participated in EURORDIS and MDUK research, namely The Voice of rare disease patients and GNE patient's day. The international GNE myopathy patient registry is a valuable research and communication tool for this ultra-rare disease.