A new article published in BMC Medical Ethics sheds light on the main ethical and regulatory challenges affecting rare disease research across Europe, highlighting the importance of dedicated support frameworks to help researchers navigate complex compliance requirements. The publication includes contributions from our researchers Annalisa Landi, Silvia Torretta and Viviana Giannuzzi, and is based on the experience of the European Joint Programme on Rare Diseases (EJP RD), funded by the European Union’s Horizon 2020 research and innovation programme under grant agreement N°825575.  

The authors analysed 65 international rare disease research projects funded by EJP RD and examined the most frequent ethics and regulatory issues encountered during project implementation. The results of the analysis included challenges related to data protection and confidentiality, management of genetic data and biological samples, informed consent procedures, ethics approvals, paediatric research, and international collaboration involving third countries. 

The findings confirm that rare disease research often involves particularly sensitive contexts, mainly due to the vulnerability of patients and the extensive use of health and genetic data. At the same time, the experience of EJP RD demonstrates how structured ethics and regulatory support can significantly improve compliance and help researchers addressing complex ethics provisions and regulatory requirements more effectively. 

The paper also highlights the importance of strengthening regulatory expertise within academic research institutions, where dedicated ethics and data protection support is often limited. 

The work is continuing within one of the wider European initiatives on rare diseases, the European Partnership ERDERA – European Rare Diseases Research Alliance which aims to improve research, collaboration, data sharing and innovation in the field of rare diseases. 

Read the publication here.