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ECRD 2024 culminates with conclusive calls ahead of EU elections

May 2024

Our 12th European Conference on Rare Diseases & Orphan Products (ECRD 2024) has concluded after two days of intensive and innovative discussions, hosted both online and in Brussels. The conference addressed the unmet needs of people living with rare diseases across Europe.

Reflecting the productive discussions and consensus on necessary actions for the EU’s next policymakers, EURORDIS has launched an Open Letter. Available for signature by any community member, this letter draws on insights from ECRD 2024 and outlines crucial steps to be taken following next month’s European Parliament elections.

Foremost among the Open Letter’s demands is a call for the European Commission to launch a comprehensive policy framework in the form of a European Action Plan for Rare Diseases. This necessary and overdue framework, with clear and measurable objectives, should foster collaboration across EU Member States and other European countries to significantly improve the lives of people living with rare diseases.

But what efforts and measures did ECRD 2024 delegates agree should be included in an Action?

And what experiences, expertise, and viewpoints have informed our Open Letter?

We report on all the key highlights of our biennial conference.

Day One of ECRD 2024

Opening Plenary

Setting the tone for the event, Avril Daly, President of EURORDIS, and Virginie Bros-Facer, our Chief Executive Officer, emphasised the significance of the conference amidst the approaching European elections and the inception of a new legislative term.

With the Conference taking place under the auspices of the current Belgian Presidency of the EU Council, Frank Vandenbroucke, Belgium’s Deputy Prime Minister and Minister for Social Affairs and Public Health, underscored the importance of cross-border cooperation in rare disease advocacy.

“To improve the situation of those 30 million Europeans, collaboration beyond borders is crucial,” said Vandenbroucke. “A European Action Plan on Rare Diseases can contribute significantly to improving that collaboration.”

Vandenbroucke’s call to action, aligned with that of our community, concerned addressing the existing geographic inequalities, ensuring equal opportunities for all people with rare diseases regardless of their location.

Testimonies from Lucy McKay of Medics 4 Rare Diseases, and Stefan Joris, Chair of Mucovereniging, highlighted the impact of ECRD on their work and the broader rare disease community. Ana Rath, Director of Orphanet, presented our 12 Labours of ECRD comic strip, chronicling the significant milestones in European rare disease advocacy since the conference’s inception in 2001.

An image of Tamsin and Lucy speaking, Lucy is holding a microphone.

Session: Revolutionising Funding Strategies for Breakthrough Therapies in Rarer Diseases

One of the conference’s six key sessions focused on innovative funding strategies for developing therapies for rarer diseases. Chaired by Holm Graessner from the Hospital of the University of Tübingen, the session tackled the unique challenges of funding research for very rare conditions.

An image of Holm Graessner, Samantha Parker, Robert E. Bopp and Dana Burduja at a panel discussion at ECRD.

Samantha Parker from Italfarmaco highlighted the critical importance of quality and data-driven development in healthcare, noting, “It’s clear that in healthcare, you can’t take shortcuts.”

“Quality development must be data-driven and adhere strictly to timelines. Also, early discussions with regulatory authorities are crucial,” Parker continued.

“The rarer the condition, the more complicated it gets.”

Robert E. Bopp from the CFD Foundation shared his family’s journey in research that would result in the repurposing of an ultimately life-saving therapy for their children’s CFTD diagnosis.

“We had to be rational and scientific to find a solution and keep our children alive,” Bopp said, illustrating the power of determined advocacy and scientific collaboration.”

Dana Burduja, the Head of Life Sciences and Health at the European Investment Bank (EIB) highlighted the EU’s commitment to retaining medical innovation within Europe and the funding opportunities that the Bank can provide.

Burduja cited examples of successful funding models and stressed the potential for EU-wide mechanisms to support rare disease research and treatment, drawing parallels with the hepatitis C treatment procurement model.

No Health Without Mental Health! Let’s Co-Create a Mentally Healthy Toolkit

The session on mental health, chaired by Kirsten Johnson from Fragile X International, brought to light the critical interconnection between physical and mental health for individuals living with rare diseases.

An image of the session 'No Health Without Mental Health,' showing the audience and panel members.

The panel featured insights from Kym Winter (Rareminds), Lucy McKay (Medics 4 Rare Diseases), Eva Schoeters (Rare Diseases Organisation Belgium), Anna Jansen (UZA), André Rietman (Erasmus University Rotterdam), and Vinciane Quoidbach (European Brain Council).

McKay emphasised that mental healthcare for people living with a rare disease is a fundamental right, stating, “Adequate mental healthcare is a right that must be recognised by professionals.”

This session explored the psychological impacts of rare diseases, the need for community and belonging, and systemic healthcare issues. The contributions noted the critical need for tailored psychosocial support not only for the rare disease patient community as a whole but also for specific rare disease patient populations.

Speakers also underscored the importance of comprehensive, patient-centric mental health support, advocating for policy solutions to integrate these aspects into national healthcare systems.

Day Two of ECRD 2024

Opening Plenary

The second day of ECRD 2024 began with an inspiring plenary session featuring Paralympian and rare disease PhD student Sofie Skoubo, EURORDIS Public Affairs Director and Head of Advocacy Valentina Bottarelli, and Eva Schoeters, Director of RaDiOrg – Rare Diseases Belgium.

An image showing the conference audience.

Sofie Skoubo opened the session by sharing her personal journey with a neuromuscular disease, diagnosed at the age of six. She emphasised the critical role of education and the necessity for societal support to help individuals with chronic illnesses achieve their full potential.

“When I was six, I was diagnosed with a neuromuscular disease. No one explained how it would impact my life. It limited my walking and caused fatigue. My parents pushed me to get an education and live like everyone else. Their support taught me to find solutions instead of giving up,” Sofie recounted.

Before discussing the promising findings of research on telemedicine robots that enable children with chronic conditions to remotely attend school, Sofie Skoubo emphasised that education is a fundamental pillar of society and a lifeline for those with limited physical capabilities. “Society must provide the necessary support to ensure children with chronic illnesses can access education,” Sofie added, calling for a greater societal commitment to educational accessibility for all.

Tamsin and Sofie on stage.

Valentina Bottarelli stressed the need for robust, coordinated policy action for the rare disease community.

“We need synergies because although much has been achieved, more remains to be done to improve the lives of people with rare diseases,” Bottarelli stated.

Session: The Path Forward for Equitable Diagnosis

The session on diagnosis at ECRD 2024, chaired by Nick Meade of Genetic Alliance UK, coincided with the publication of our peer-reviewed paper in the European Journal of Human Genetics, presenting findings from a landmark Rare Barometer survey involving over 10,000 participants from the rare disease community.

An image showing the conference audience.

Presenting these findings, Jessie Dubief, revealed that Europeans with a rare disease wait an average of 4.7 years for a diagnosis, with even longer waits for those whose symptoms appear in childhood or adolescence. She highlighted that 90% of the rare disease community supports newborn screening for earlier diagnosis and harm prevention.

To tackle long diagnosis journeys, Simona Bellagambi, representing UNIAMO, underscored the critical support for newborn screening within the rare disease community. “The positive opinion on newborn screening is very clearly and easily explained,” she stated, urging EU institutions to act, “because we are talking about equality.”

Petros Tsipouras from FirstSteps Greece discussed a nationwide programme aiming to screen 100,000 babies over three years, enhancing early detection and improving long-term health outcomes. Ingo Kurth and Miriam Elbracht from RWTH Aachen shared their study showing that 75% of participants made direct medical decisions based on genetic diagnoses. Graham Shortland from Wales highlighted the SWAN Clinic’s genome screening efforts, which have led to significant improvements in multi-disciplinary and personalised care.

Session: Achieving Full Reach – Overcoming the Last Challenges to Access Highly Specialised Care

Our session on the realisation of expanding access to cross-border, highly specialised care across Europe focused on identifying gaps, centralising expertise, funding, and implementing innovative solutions to ensure equitable care for all patients.

An image of the panel from the 'Achieving full reach,' panel.

Ivo de Blaauw from Radboud University Medical Centre discussed patient referral processes and financial tools for specialised care, highlighting the need for collaboration among patient organisations, regulators, and insurers at the European level. He advocated for national centralisation of certain procedures and the creation of specialised European centres for ultra-rare, complex interventions. He emphasised the importance of cross-border healthcare organisation, monitoring outcome parameters, and ensuring transparency of results.

Fiona Marley from NHS England emphasised concentrating expertise, understanding patient needs, and mobilising and monitoring highly specialised services to meet these needs effectively.

Miriam Wilms from SoMA eV advocated for national centralisation of rare, complex surgical procedures, recognising the long-term nature of these efforts. She suggested the EU set standards for national use, citing ERNs as an example. Wilms discussed cross-border collaboration for ultra-rare diseases, emphasising the importance of case numbers and the volume-outcome relationship. She called for minimum requirements, high-quality standards for hospitals, and regular second opinions.

Finally, Nicole Wolf from Amsterdam University Medical Centre advocated for patient self-referral to eligibility panels and a system for accessing specialised care and second opinions. She highlighted the role of European expert panels in making joint decisions on complex cases.

Session: Innovative Therapies, Unequal Access: Bridging the Gap for Rare Disease Treatments

The session on innovative treatments at ECRD 2024 brought together experts to discuss the complexities of boosting access to rare disease treatments and emphasised the critical role of European Reference Networks (ERNs), collaboration, patient involvement, and pricing transparency to improve treatment access across Europe.

An image of the 'Innovative therapies' panel

Jo de Cock, formerly from RIZIV/INAMI, highlighted that market authorisation does not guarantee access in the EU, noting significant regional variations. He proposed multi-country initiatives such as joint procurement and an EU guarantee fund to standardise and improve access to treatments. This call for collaborative approaches aims to address disparities and ensure equitable treatment availability across different regions.

Christine Leopold from the Austrian Public Health Institute (GOEG) discussed the interplay of research and development, regulatory frameworks, and payment models, including out-of-pocket expenses.

Meanwhile, Daniel de Vicente, representing the ASMD community in Spain, underscored the importance of patient involvement in defining unmet needs and the value of patient registries in understanding disease history and progression.

Session: National Plans – Exchanging Best Practices to Forge a Unified European Response to Rare Disease

In this session on national rare disease plans, patient representatives and policymakers from Italy, Luxembourg, and France shared their insights and experiences, highlighting the need for concrete objectives and enhanced collaboration that can reinforce and complement European strategies.

An image of the 'national plans' panel.

Representatives from Luxembourg, Antoni Montserrat and Francesca Poloni, emphasised the importance of setting specific goals, avoiding vague commitments in their national plan, the incorporation of patient organisations in these plans’ governance. They advocated for a European framework to support and enhance national plans, ensuring that objectives are clear and actionable to truly benefit patients.

Bringing their insights from Italy, Annalisa Scopinaro and Giovanni Paolo Latella demonstrated how collaboration between patient organisation UNIAMO and the Italian Ministry of Health has led to significant progress.

The integration of data from UNIAMO’s MonitoRare report into the Ministry’s monitoring process has helped identify gaps and necessary revisions. This work resulted in the welcome establishment of a monitoring mechanism for tracking progress in this area.

Similarly, Jean-Philippe and Anne-Sophie of France discussed their country’s experience with four rare disease plans since 2005, stressing the importance of patient and political support, collective efforts, and adopting best practices from other countries.

The session ultimately concluded with a strong consensus around our own call for a European Action Plan for Rare Diseases that amplifies national initiatives.

Closing Plenary

The closing plenary of ECRD 2024 featured impactful speeches from key figures, underscoring the need for coordinated efforts to improve the lives of millions across Europe living with rare diseases. European Commissioner for Health and Food Safety Stella Kyriakides highlighted the EU’s commitment to enhancing patient access to diagnosis, treatment, and care, aligning with EURORDIS’ overarching goals.

Kyriakides affirmed, “The EU shares EURORDIS’ overarching goals for rare diseases: to improve patient access to diagnosis, treatment, and care. And we are taking concrete steps to achieve it.” She added, “People suffering from rare diseases must have access to the best, the most innovative treatments, no matter where they live, and no matter their disease.”

Alain Coheur from the European Economic and Social Committee (EESC) emphasised the importance of a comprehensive European Action Plan for Rare Diseases. Developed in collaboration with civil society organisations, this plan aims for equal access to diagnosis, treatment, and holistic care for all rare disease patients in the EU. He called for cross-border cooperation and urged the Belgian Presidency to highlight rare diseases at the upcoming EPSCO council.

Coheur also stressed the need for continuous training for healthcare professionals to improve diagnosis and referral processes and advocated for high-quality, integrated multidisciplinary care. He called for solidarity-based health insurance systems and the creation of an EU financial fund to ensure access to treatments for all rare disease patients, particularly those with unmet medical needs. “Mutualisation at the European level is a necessity and a priority. Now we have a roadmap – let’s start,” he concluded.

Jakub Dvoracek, Deputy Minister of Health of the Czech Republic, also contributed to the closing plenary, emphasising the necessity of collaboration in addressing rare diseases in Europe. “You cannot do it as a 10-million country in rare diseases. No chance,” he insisted, highlighting the importance of being part of a broader European network.

Dvoracek stressed the need for a joint plan, reflecting on collaborative efforts during the previous Czech presidency with France and Sweden. “Every country has contributed over the last two to three years, but we are still not there. We need a joint plan for rare diseases,” he stated, promising continued support from the Czech government and urging the new European Parliament and Commission to build on the current momentum.

Sign our Open Letter!

ECRD 2024 concluded with promising commitments from key EU figures to the rare disease community.

However, the fast-approaching European Parliament elections and the appointment of a new European Commission will shape rare disease policymaking for the next five years.

Our call for a goals-based European Action Plan for Rare Diseases – incorporating learnings from ECRD 2024 – depends on the next cohort of EU decision-makers. Our community’s collective voice must remain strong and loud.

Sign the Open Letter co-created by our conference attendees, which outlines our expectations to the EU institutions and country leaders. Let’s ensure that ECRD 2024 leaves a lasting legacy.

Julien Poulain, Communications Manager