Rare Disease Day: Horizon projects INVENTS and E-Rare-3

In the European Union, over 6000 distinct rare diseases affect up to 36 million EU citizens. The EU has supported research in the field extensively through its funding programmes. Horizon Europe (2021-2027), the current research and innovation funding programme, continues to support these efforts. 

On Rare Disease Day, HaDEA interviewed Sarah Zohar (SZ), coordinator of the EU-funded project INVENTS, and Florence Guillot (FG), representative of the French National Research Agency in the the ERA-Net E-Rare-3 project, to shed light on their projects. 

1. How are your projects contributing to research on rare diseases? 

• SZ: The INVENTS project aims to advance the future evaluation of treatments and improve regulatory decision-making for rare diseases, including for rare paediatric conditions. By leveraging comprehensive data from various use cases provided by our industrial partners along with real-world data, INVENTS will strengthen evidence derived from small sample sizes. This will be achieved through the use of advanced computational models and innovative trial designs. 

• FG: The E-Rare 3 project is building on and further developing the work of the Horizon 2020 E-Rare consortium, which was built to link responsible funding bodies that combine the scarce resources and fund rare disease research via Joint Transnational Calls (JTCs). In addition to launching JTCs, the E-Rare consortium developed additional activities such as communication and impact assessment activities, and most importantly built European and international collaborations on rare diseases.  

2. Could you elaborate on the approach adopted by the projects to identify the needs of key stakeholders?  

• SZ: The primary stakeholders of the INVENTS project include researchers, regulatory bodies, patients, clinicians, and industry partners. We focus on maintaining continuous feedback loops with all relevant stakeholders throughout the lifespan of the project. This ensures that any emerging needs or challenges are addressed promptly, allowing the programming to evolve in real time to meet the changing demands of the healthcare landscape. 

• FG: The international dimension of E-Rare was reflected in the close collaboration with the International Rare Diseases Research Consortium (IRDiRC), which brought to the implementation of the IRDiRC’s guidelines and policies in the four JTCs of E-Rare. The project is also involving patients’ advocacy organisations (PAOs) such as the European Organisation for Rare Diseases (EURORDIS-Rare Diseases Europe), which has become a full partner of the E-Rare-3 consortium and has actively contributed to the development of new models of funding and implication of PAOs in research. 

3. Have you encountered any significant challenges in implementing your project and integrating your solutions in broader healthcare systems?  

• SZ: The main challenges encountered so far include issues regarding intellectual property rights (IPR) and the timing of advance information for dissemination as well as the selection of variables prior to the pseudonymisation procedures. Due to the project handling a lot of data, all the data access agreement procedures need to be carried out and that also takes time.  

• FG: The most challenging milestone of E-Rare-3 consortium was the launch of a JTC on clinical trial focused on new therapeutic uses of already existing molecules in rare diseases. Several obstacles to a multinational clinical trial (such as the drug procurement, the lack of central services, the country specificities) were identified and a resulting workshop concluded with the publication of a white paper on “Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases”. A multinational clinical trial on rare diseases will be launched by Erdera in 2026. 

4. How important is the support of EU funding for your projects? 

• SZ: The support of EU funding is crucial for the success of the INVENTS project. It enables us to undertake innovative and high-impact research, particularly in the field of rare diseases, which often face challenges due to limited funding opportunities. The EU funding has also been essential to secure additional funding from the UK and Swiss governments, allowing key academic and industrial partners to join the project. 

• FG: EC funding is crucial, since several joint transnational calls launched by E-Rare-3 have been co-funded by the EU and this has allowed the funding of additional research projects. Moreover, the organisation of international strategic workshops dedicated to rare disease research strategies and the creation of collaborations with international consortia/infrastructures would not be possible without EU funding. Most importantly, some success stories emerged from these projects as successful research consortia kept applying to the JTCs and received funding on a regular basis (i.e. NSEuroNet, GENOMIT, Euro-DBA/RiboEurope, EURO-CDG, Euro-Ataxia).  

Background

Horizon Europe is the research and innovation programme of the EU for the period 2021-2027. The aims of Cluster 1 ‘Health’ include improving and protecting the health and well-being of citizens of all ages by generating new knowledge, developing innovative solutions and integrating where relevant a gender perspective to prevent, diagnose, monitor, treat and cure diseases. Horizon 2020 (H2020) was the EU’s multiannual funding programme between 2014 and 2020.