The European Conference on Rare Diseases (ECRD) was originally planned to take place in Stockholm in May. Because of the Corona virus, the conference was moved online to May 14th and 15th, which made it possible for more people from OIFE to attend. Five people represented OIFE specifically and you can read about their experiences below. In addition, six people from the OIFE-community attended representing other organizations or stakeholders. Rebecca Tvedt Skarberg (ePAG ERN-BOND) was invited as a speaker, and she gave one of the opening talks about Rare2030 as well as two talks in different sessions. 

In total 1,500 people from 57 countries registered for the conference, which is recognized globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape future rare disease policies.

The conference was divided into six different themes and we tried to spread out, so we had people from OIFE attending all themes:

• Theme 1 – The future of diagnosis: new hopes, promises and challenges
• Theme 2 – Our values, our rights, our future: shifting paradigms towards inclusion
• Theme 3 – Share, Care, Cure: Transforming care for rare diseases by 2030
• Theme 4 – When therapies meet the needs: enabling a patient-centric approach to therapeutic development
• Theme 5 – Achieving the triple A’s by 2030: Accessible, Available and Affordable Treatments for people living with a rare disease
• Theme 6 – The digital health revolution: hype vs. reality

Taco van Welzenis (The Netherlands):

The ECRD was very professionally done and had optimal use of the technical possibilities. On the second day there were unfortunately some technical issues connected to sound and internet connections. But ironically, I think I was better able to hear the speakers at this online event, than in a full room with an audience. The highlight for me was the Swedish EU-politician David Lega who held several passionate talks.

Sandra Reis (Portugal):

It was the first time that I participated in the ECRD and it was a very positive surprise for me to see so many people interested in rare diseases. Before the conference, the “Rare 2030” seemed very complex and ambitious to me. After the conference, I understood much better the integration and connection between all the topics debated and the Rare 2030 project and agenda.

Many scientific studies and projects were described. It was clarified how scientific and technological developments are improving the diagnosis and knowledge of rare diseases, such as Next Generation Sequencing (NGS) and Artificial Intelligence (AI). The ECRD also demonstrated that in the EU, people with rare diseases and their families face social inclusion challenges every day. People with rare diseases are vulnerable because access to treatment, care, and opportunities is still not equal for all people. This reinforces the importance of these events to develop new strategies, regulatory practices, and policies at the national and global levels. The highlight for me, was the talk from Rebecca Tvedt Skarberg, which was very clarifying and inspiring.

Rita Santos (Portugal): 

The opportunity to participate in ECRD arose because I am a student in pharmaceutical sciences who also happen to have OI. One of several topics that caught my attention at the ECRD was the importance of the users/ patient’s opinion in the development of drugs and the fact that there are several different ways to include the user perspective in that same development. In general, the congress was a huge source of learning, where I was able to hear and share different opinions on all kinds of issues. Thank you OIFE!

Claudia Finis (Germany): 

At the conference I heard talks about many different topics, including adaptive trials according to a baysian modell. In this model you can make interim analyses to see if there is a benefit. On one hand the pharmaceutical company may stop the study earlier if the drug shows no benefit but on the other hand if a drug shows at this early stage a benefit, it will get to regulatory agencies much earlier and therefore earlier to the patient. It is possible but with doubts and uncertainties. Another highlight for me was to learn about the work of the AKU Society. Alkaptonuria (AKU) is a ultra-rare disease (only one in 500.000 people is affected) which also affects the bones. The AKU Society carried out a drug repurposing project from a mouse model to apply for market authorisation in only 10 years!  They recruited 138 patients in Europe and raised about 20 million pounds in order to get the study done! Amazing!