Introduction
As of today, less of 6% of rare diseases have approved treatments and most of the drug development efforts are actually concentrated on a limited number of conditions. Therefore, there are many rare diseases with little or no research activity, the so-called “disregarded rare diseases”. Many technical and social reasons may account for this: lack of disease knowledge and academic interest, the pathophysiological complexity of many diseases, cellular localization of the defective protein (for genetic diseases), diagnostic complexity, and – possibly above all – extreme rarity. Although the existence of a large group of “disregarded” rare diseases is unanimously acknowledged by the rare disease research, patient and development communities, no specific analysis has been conducted so far to characterize specific commonalities amongst these diseases, with the potential secondary aims to identify removable roadblocks that may foster future research and development.
Objectives
The PLUTO project aims at using an integrated database search approach to: (1) identify and classify the groups of rare diseases that are currently under-represented by academic research and industrial development alike, (2) determine what characteristics they have in common, and – through this analysis – (3) to understand what are the roadblocks that are preventing the chances of seeing effective treatments being developed in the near future.
Based on the results of this analysis, the working group also aims at providing potential recommendations to policy makers, funders and developers to overcome existing limitations and roadblocks for research and development for these “disregarded” diseases.
Timeline
Assembly of the Task Force Group (Q1, 2022)
Members
- Daniel O’Connor – The Medicines and Healthcare products Regulatory Agency, UK
- Diego Ardigò – Chiesi Farmaceutici S.p.A, Italy
- Anneliene Jonker – University of Twente, The Netherlands
- Birute Tumiene – Vilnius University, Lithuania
- Chiuhui Mary Wang – Rare Diseases International, Italy
- Eri Matsuki – Keio University, Japan
- Estrella López Martín – Instituto de Salud Carlos III, Spain
- Jeanie Kim – Chan Zuckerberg Initiative, USA
- Kym Boycott – CHEO Research Institute, Canada
- Lindsey Murray – Critical Path, USA
- Maurizio Scarpa – University Hospital Udine, Italy
- Michela Gabaldo – Fondazione Telethon, Italy
- Ralf-Dieter Hilgers – Aachen University, Germany
- Sandy Retzky – US Food and Drug Administration, USA
- Sangeeta Jethwa – ANAVEON, AG, Switzerland
- Virginie Hivert – Eurordis-Rare Diseases Europe, France