Variety of Italian Stakeholders Facilitate Drug Discovery and Development Process in Orphan Diseases


06 June 2013 – Milan, Italy.
According to EvaluatePharma’s 2013 Orphan Drug Report, the orphan drug market is set to reach $127 billion by 2018, and will account for nearly 16% of total prescription drug sales.


Italy makes an interesting case study as to how commercial, public and not-for-profit entities contribute to the advancement of research into new therapies targeting orphan conditions.  The involvement of these parties spans from activities in the early discovery, preclinical development, clinical trial logistics management and policy making.


One of these stake holders is CNCCS Consortium (Centre for Rare, Neglected and Poverty-Related Diseases) whose objective is to create a central repository of organic compounds and to serve as a high throughput screening hub for the identification of novel lead compounds acting on biological targets of interest.  Molecules are collected from public and private sources and the fully automated repository can hold up to 500,000 compounds.  Members of the CNCCS Consortium have already completed screening assays with novel biological targets and new targets are continually used for the identification of novel ligands.  CNCCS is located within IRBM Science Park, a spin off Merck Research Laboratories in Rome, which incubates a variety of new ventures and private-public initiatives including other players in the orphan space such as Promidis, dedicated to discovery of novel therapeutic and diagnostic molecules, and Advent, a GMP manufacturing facility for the production of adenoviral vectors.  PROMIDIS (PROtein MIsfolding DISeases) applies its screening platform to identify molecules involved in protein aggregation disorders and has the primary focus on Huntington’s disease through a strategic alliance and funding from CHDI Foundation.


Not for profit patient associations also play a significant role in the area of orphan diseases. FFC, the Italian Cystic Fibrosis Foundation, raised in 2012 over €2 million which plans to use for research funding of approximately 30 projects.  Over the past 10 years, FFC has funded close to 200 projects in Italy spanning from basic research to the development of new clinical protocols and policy initiatives.  Several novel drug candidates have been identified but their transition into clinical development is expected to occur only through cooperation with the industry, an avenue already pursued through a collaboration with GSK.


Duchenne’s muscular dystrophy is the main focus of Parent Project foundation in Italy. In addition to the maintenance of the national DMD registry, Parent Project dedicates a significant portion of its activities to patient assistance programs.  Their expertise is particularly useful to the pharmaceutical companies conducting trials on a challenging patient population of DMD affected children. Trial sponsors often rely on Parent Project to coordinate the paperwork and communication with study subjects and their families in order to  minimize drop out events due to the challenges of participation in studies in distant centres.