Work Package Leader: Gianni Benzi Foundation (FGB)

Since iNMDs are rare diseases affecting a small population of patients, the patients recruitment in biomedical research, including clinical trials, is getting more and more difficult, due to geographical dispersion and economic, methodological and ethical barriers. The aim of this Work Package is to facilitate the identification of group of patients (target populations) to be involved in future clinical studies and other researches, that will be facilitated through the dissemination and sharing of information generated by the project .

This Work Package lead up to the production of methodological and ethical recommendations.

Methodological recommendations will deal with:

  • Methodologies for optimize adult data extrapolation to children with NMDs;
  • Modelling and Simulation methodology based on mathematical and statistical models;
  • Alternative study design (response-adaptive methods, sequential designs, n-of-1 trials) that can be used to reduce sample-size.

In addition, it will be evaluated the possible use of biomarkers to be integrated in CTs for developing personalised medicine.

Since the lack of appropriate treatments often leads to the use of medicines and other not well-established tools, it is necessary that well-conducted research are performed.  This leads to the necessity to  produce ethical recommendations for researchers, sponsors, health authorities and patients with the main aim to balance the development of well-studied and appropriate medicines with ethical concerns for enrolling very young patients.