Participants of the 237th ENMC workshop which was held in June 2018, reviewed the current medical and scientific knowledge relevant to GNE myopathy to achieve a better understanding of GNE myopathy epidemiology, phenotype and genetics. They agreed on a standard of care (SOC) for GNE myopathy patients, discussed the strength and weakness of the currently available animal models, and attempted to improve their understanding of the biochemical consequences of the GNE defect on muscle tissue leading to muscle damage and weakness. Additionally, participants deliberated other potential treatments for the condition such as gene therapy and stem cell therapy.
A number of EURO-NMD network representatives not only attended the workshop but were invovled in the organisation of the workshop.
A full report will be published in Neuromuscular Disorders in due course.