The European Reference Network for Metabolic Diseases (MetabERN) has drawn up new recommendations for Pompe disease, the most common muscular glycogenosis:
- experts in the field and members of MetabERN have analysed the recent literature on the subject, focusing on the results of various therapeutic trials,
- a rigorous methodology was used to create a standardised database and to weight the results of each study, giving priority to its qualitative aspects,
- the result is a summary document that can be more easily assimilated by practitioners in the field.
These recommendations complement those recently put forward by the European Pompe Disease Consortium (EPOC) on the conditions for initiating and discontinuing enzyme replacement therapy.
