Edition of 26 June 2020

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Editorial

ECRD2020: Looking Back to the Future

For the first time ever, the European Conference on Rare Diseases and Orphan Drugs took place in a virtual format on 14-15 May 2020. The conference, organised by EURORDIS with the support of Orphanet, brought together 1500 participants from all stakeholder groups and 57 countries across the globe for two days dedicated to reviewing the rare disease landscape and looking to the future.

ECRD is recognised 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 plenary opening session was officiated by HRH Crown Princess Victoria of Sweden and featured introductory messages and keynote speeches from policy makers and patient advocates. The speakers took stock of the current COVID health crisis, drawing parallels with the hurdles faced by the rare disease community, including the need for a true health policy approach, and the importance of cross-border cooperation, as exemplified by the European Reference Networks for Rare Diseases. Speakers, including European Commissioner for Health for Health and Food Safety, Stella Kyriakides and European Commissioner for Equality Helena Dalli, emphasised the need to ensure that the equality of those living with rare diseases is protected at this time and in the future and that a holistic, patient-centred approach is taken, bridging the spectrum from research and innovation to social services and inclusion in society.

During this event, conference organiser EURORDIS-Rare Diseases Europe and co-organiser Orphanet appealed to the EU and EU Member States to accelerate work towards EU policies to improve the health and wellbeing of Europeans with rare diseases, notably through collective decision making. In a press release published at the start of the two-day conference, the organisers explained how the recent experience with the COVID-19 pandemic has demonstrated to the wider public the challenges that the rare disease community faces on a permanent basis, an impact that is keenly felt on the health status, social life, and economic prosperity of this population.

The conference built on the work of the ongoing Rare2030 Foresight study (read more in the Spotlight), which will deliver a comprehensive set of key recommendations to policy makers on how to improve rare disease policy in Spring 2021. Participants took the time offered by this conference to look to the future, to reflect on the four policy scenarios proposed by Rare2030, and how to co-design our preferred future. "We are preparing for the next decade,” said Yann Le Cam, CEO of EURORDIS, “We are bringing forward solutions, created at the margins of society but becoming more mainstream. Rare2030 was the backbone of ECRD 2020. The outcome of the conference is a new impetus to initiate a new legislative framework for rare diseases."

The closing plenary took stock of the discussions in each of the six themes, spanning areas as diverse as orphan drug development and inclusion in society. The voting and discussion on the four policy scenarios proposed by Rare2030 served as in instrument to reflect on what the preferred patient journey would look like in 10 years’ time, and indicated that the rare disease community wish for future policy to work towards a future with high collective responsibility with an increased emphasis on patient needs’ driven innovation, although the current prevailing trend is more towards market-led innovation. The desire for a holistic approach, with the patient in the centre of the framework was a leitmotif throughout the closing remarks from various stakeholders.

If you did not manage to attend the European Conference on Rare Diseases online earlier this month, you can still access full content from the conference now for a reduced fee. This includes the recordings of all ECRD 2020 sessions, including speeches from 3 European Commissioners, 2 Health Ministers, and over 100 expert speakers. Two sessions, as a taster, are available online without a paywall: Getting our rights ‘right’: An international framework for rare diseases (Theme 2) and Orphan Drug Development Guidebook (Theme 4).

An Orphanet Journal of Rare Diseases supplement dedicated to the conference, will include abstracts from speakers and the highest noted posters presented during the two days on the platform. During the conference three prizes were awarded for the top-noted posters:

1. A collaborative and patient-centric effort to find the first effective treatment for alkaptonuria. (Nick Sireau)
2. ‘Patient Journeys’: Personal experiences shaping clinical priorities (Olivia Spivack)
3. Quality of life (QoL) for people with rare diseases: Recruitment challenges and consequences in a study pilot-testing the UK-PSC-QoL, a provisional QoL tool for people with primary sclerosing cholangitis (PSC) in the UK (Elena Marcus)
The next ECRD, taking place on 16-18 June 2022 at the Acropolis Congress Centre in Nice, France, will tie in with France’s EU presidency and will take stock of the progress made towards the RD community’s preferred policy scenario.

Spotlight

Rare2030: Knowledge Base Factsheets and Policy Scenarios available

One of the main focuses of The European Conference on Rare Diseases and Orphan Drugs (ECRD) was the policy work currently being undertaken in the context of the Rare2030 (https://www.rare2030.eu/) project. This EU Pilot Project, commissioned by the European Parliament and coordinated by EURORDIS is aimed at guiding a reflection on rare disease policy in Europe through the next ten years and beyond, based on foresight exercises, and will ultimately deliver recommendations towards the future scenario deemed most desirable through very broad stakeholder consultation.

ECRD2020 served as an opportunity to evaluate the plausibility and consistency of four proposed scenarios and fine-tune the scenarios’ description to different territorial contexts. Sessions throughout the ECRD presented the possible future scenarios in rare disease policy and opened a debate on the policy options needed to get there.

To date, an extensive literature review has been undertaken by the project, coupled with a broad analysis of the status quo, leading to the production of eight ‘Knowledge Base Summaries’, elaborated with the input of over 200 experts contributing to the project. These documents highlight the major policies, initiatives and resources, on the one hand, and trends and drivers on the other, across eight fields:

• Political & strategic frameworks relevant to rare diseases
• Data Collection and Utilisation
• Availability and accessibility of Orphan Medical Products (OMPs) and medical devices
• Basic, Clinical, Translational and Social Research for Rare Diseases
• Diagnostics
• Integrated, Social and Holistic Care for People with Rare Diseases
• Rare Disease Patient Partnerships
• Access to Healthcare

The 200-strong panel of experts commenced discussions based on these documents, which evolved into a foresight exercise which ultimately identified a number of main trends in the rare disease field. These overarching trends were then ranked and developed into 4 contrasting policy scenarios at the end of 2019 and start of 2020 by the project partners, and were refined by experts before being presented at ECRD2020 to the wider RD community in order to gain their feedback on the scenarios, and determine their preferred scenarios.

These four scenarios vary most strongly in terms of their approach to innovation (needs-based versus market-led) and societal attitudes towards solidarity (individual responsibility versus collective accountability) and are described as follows:

1. Investment for Social Justice
2. Fast Over Fair
3. It’s Up to You to Get What You Need
4. Technology Alone Will Save You

A video presenting the four main scenarios has been produced to help tell the story of each of these 4 potential futures for the rare disease field.

Feedback from ECRD attendees suggests that the rare disease community prefers the “Investment for Social Justice” scenario, sees the “Fast over Fair” scenario as most likely to happen if we continue as we are and least prefers the “It’s Up to You to Get What you Need” scenario.

The feedback from discussions at ECRD2020 on these scenarios will be taken into account in the next stage of the project, as recommendations are drafted to help the European RD field build the future it most wishes to see. There will be a particular emphasis on ERN-related policies and recommendations, which will seek to address the major strategic issues and barriers preventing the Networks from reaching their full potential. A series of Regional Conferences (to be held virtually) are planned for the second half of 2020, which will bring key stakeholders together to analyse how identified trends apply to regional contexts, to debate which scenarios should be focused on or favoured and to reflect on how policies may help shape a sustainable future for people living with a rare disease in different countries. These meetings will take place amongst stakeholders from France, Sweden, Spain, Czech Republic, Croatia, and Germany, aligning the project with future EU presidencies. Young European Citizens, as the voice of the future, will also be integrated into these discussions, bridging the gap between the next generation public, experts and politicians to contribute to and validate a series of future policy scenarios at the 2030 horizon of rare disease policy.

The final step of the project, in February 2021, will be the finalisation of policy recommendations in view of reaching the preferred policy scenarios: these recommendations will be presented to the EU parliament as part of Rare Disease Week.