Written by Luisa Antunes.
The STOA Panel on the Future of Science and Technology conducted a workshop on rare diseases and childhood cancer on 5 July 2023. The event brought together various stakeholders, including patients, advocates, researchers, healthcare professionals and policymakers. The focus was on discussing the EU policy framework on rare diseases while also identifying the challenges in providing care and the opportunities for collaboration between Member States.
Member of the European Parliament and STOA Panel member, Pernille Weiss (EPP, Denmark), opened the event by emphasising the importance of addressing rare diseases and of securing support at all levels: patient families, local communities, EU Member States and EU institutions.
In her keynote address, Nichola Larkins from the European Commission’s DG SANTE stressed the EU’s commitment to human health protection while also drawing attention to its legal framework for rare diseases: 1) the Regulation on Orphan Medicinal Products, 2) the Commission communication of 2008; 3) the Council recommendation of 2009, and 4) the Directive on Cross-border Healthcare. Larkins highlighted the importance of the European reference networks (ERNs) in facilitating cooperation between healthcare systems and in supporting rare disease treatment. She also mentioned the Commission’s proposal to revise the EU’s pharmaceutical legislation with the aim to make innovative medicines more accessible and affordable for rare disease patients.
The panellists – among them researchers, healthcare professionals and patient advocates – discussed rare diseases in relation to a number of challenges, such as difficulties in diagnosing, treating and caring for patients, patient involvement, and the need for further research.
Uta Dirksen, a paediatric oncologist and haematologist, stressed the significance of collaboration, clinical trials and registries to improve outcomes and reduce disparities across EU countries. She also highlighted the potential of artificial intelligence technologies in enhancing knowledge and decision-making tools related to rare diseases.
Lucie Sramkova, a paediatric oncologist and haematologist, raised concerns about inequality in paediatric cancer care in eastern Europe. She emphasised the need for closer cooperation with advanced specialised centres, access to early clinical trials abroad, and diversified sources of financing. Sramkova also underlined the role of the European Society for Paediatric Oncology – SIOP Europe – and the importance of implementing defined standards in paediatric cancer care.
Ruth Ladenstein, a professor in paediatric haemato-oncology, discussed the advances in paediatric oncology, including in terms of clinical practice guidelines and academic education. She highlighted the challenges in accessing cross-border healthcare, such as language barriers and travel costs, and called for harmonisation and transparency in evaluating patient needs. Ladenstein also asked for a revision of the cross-border healthcare rules to improve patient conditions.
Kjeld Schmiegelow, a professor in paediatrics and paediatric oncology, pointed out the importance of patient volume in improving care, but also in developing expertise in and access to novel therapies. He advocated for creating networks of centres or hubs that collaborate closely to achieve the benefits of larger patient volumes. Schmiegelow also highlighted the importance of a clear legal framework and informed parental consent on data sharing as drivers of innovation and research in the area of paediatric cancer and rare diseases.
Patricia Blanc, a representative of parents from the Federation of Childhood Cancer International Europe, discussed urgent unmet needs in paediatric cancer care. She emphasised the lack of access to innovative treatments and the low rate of child participation in clinical trials. Blanc highlighted collaborative initiatives aiming to accelerate drug development and prioritise children’s needs.
Participants underscored the importance of collaboration, expertise enhancement and infrastructure improvement in paediatric oncology and rare diseases. They also mentioned the need for innovative frameworks, sustainable funding and closer collaboration among healthcare centres to improve outcomes for children and families affected by rare diseases.
The event concluded with a call for action to improve the quality of care for patients with rare diseases. The speakers stressed the importance of cooperation between Member States and the need for further investment in research.
Rare diseases have a significant impact on public health, affecting an estimated 46 million people in the EU.
The EU’s policy framework aims to improve access to diagnostics, treatment, and care for rare disease patients.
Challenges include low awareness, high treatment costs and coordination issues among Member States.
Collaboration between Member States is crucial to enhance the quality of care for rare disease patients.
Importance of patient involvement
One of the key themes that emerged from the event was the importance of patient involvement in the development of policies and guidelines for rare diseases. Patients and patient advocates have expertise based on their practical experience, and they can provide valuable insights into the challenges and opportunities of living with a rare disease.
Patient involvement in the development of policies and guidelines is a way to ensure that these are centred on the patients and address their needs. For example, patients can help to identify the barriers to accessing care and suggest ways to improve the quality of care.
Need for further research
Another key theme was the need for further research into rare diseases. There are still many unanswered questions about the causes, symptoms and treatments of rare diseases. Further research is needed to develop new treatments and to improve the quality of life of people with rare diseases.
Role of the EU
The EU has a role to play in improving care for people with rare diseases, for instance by helping to raise awareness of rare diseases, to improve coordination between Member States, and to support research into rare diseases.
The way forward
The workshop provided valuable insights for an upcoming STOA study focused on ways to improve collaboration between Member States so as to enhance research and treatment for paediatric rare diseases. Recommendations include increasing awareness, reducing treatment costs, improving coordination, and investing in research. Patient involvement remains pivotal in ensuring patient-centric care. The EU’s role in improving patient care and supporting research was underscored.
The STOA workshop offered valuable opportunities for in-depth discussions on challenges and opportunities in rare diseases and childhood cancer care. Collaboration, patient involvement, and research were identified as key components of progress in addressing rare diseases. The outcomes of this event will contribute to the forthcoming STOA study and continue to raise awareness within the Commission and the Council. Your opinion counts for us. To let us know what you think, get in touch via email@example.com.