Work Package Leader: Gianni Benzi Foundation (FGB)

The main objectives of this WP is the collection on data on centres of expertise, iNMDs diagnosis and treatment including clinical and laboratory information and other epidemiological or clinical variables, such as phenotype, biomarkers, and other innovative biological parameters.

To this aim, an electronic repository will be setup and will include:

  • a list of centres of expertise taking care of iNMD patients;
  • an Inventory of the available evidence-based scientific information concerning studies, therapies, non-pharmacological treatments, pharmacogenetics and other -omics approaches;
  • an Inventory of the existing current practices for iNMDs treatment, as accessible from specialized publications, official sites and Partners;
  • a Database of available Orphan Drugs for iNMDs encompassing information on the orphan condition, ATC code, Marketing Authorisation status, paediatric status, approved indication, off-label use, availability by country (the data source will be the Eu-Orphan database);
  • a list of Recommendations produced by the network.