Fondazione Gianni Benzi participated in the Monothematic Conference “Rare Diseases and Orphan Drugs” SIF4RARE Working Group that took place on 23-24 February 2024 at the Bari Chamber of Commerce.

The conference was created with the main objective of promoting translational research of rare diseases. It was an important opportunity for dialogue among different stakeholders, including politicians, decision makers, patient associations, clinicians and researchers to debate the opportunities offered by the new National Plan for Rare Diseases.

The head of the Foundation’s research department, Dr Viviana Giannuzzi, took part in the event with an oral presentation regarding the use of Real World Data (RWD) for regulatory purposes in the rare diseases context. The use of RWD is an “innovative way of doing research” and is of particular interest in rare diseases, because the scarcity of individuals living with a particular condition and the heterogeneity of the disease make the traditional clinical research difficult and lengthy. This originates from the work done in the context of a recent Frontiers Research Topic “The use of real world data for regulatory purposes in the rare diseases setting”. To fully exploit the potential of RWD for regulatory decision making, several actions have been proposed: learn more here!

In addition, two posters were presented on recent analyses on EMA regulatory data “Innovative research methodologies in the EU regulatory framework: an analysis of EMA qualification procedures in the perspective of rare diseases” and “Target therapy for high grade neuroblastoma treatment: of regulatory and scientific tools is needed”.