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Editorial
EESC calls for a European Action Plan on Rare Diseases
On 23 October 2024, the European Economic and Social Committee adopted the opinion “Leaving no one behind: European commitment to tackling rare diseases.” This exploratory opinion, issued at the request of the Hungarian Presidency, calls on the European Commission to launch a proposal for a comprehensive European Action Plan on Rare Diseases (APRD) within the next year.
Currently, there is no comprehensive European framework or strategy to address the unmet needs of Europe’s rare disease community. The policies of years past, such as the Council Recommendation on rare diseases (2009) have been outpaced by the development of new technologies. Furthermore, Member States’ national plans are a heterogeneous group, ranging from robust to inexistent. The creation of a European APRD would provide the more than 30 million individuals with a rare disease living in Europe access to higher standards of diagnosis, treatment and care, while also providing a framework for Member States to create or strengthen country-specific plans.
In order to ensure that the APRD adequately addresses the needs of the rare disease community, the EESC opinion calls on the Commission to:
- Launch the proposal for a comprehensive European APRD with SMART (specific, measurable, achievable, relevant, timely) targets that can be achieved by 2030 to enable the diagnosis of rare disease patients within one year;
- Set up a Steering Group for the European APRD composed of experts from Member States, EURORDIS members and the EESC;
- Encourage agreements with Member States on the content, updating, application and monitoring of national plans for rare diseases;
- Guarantee financing and feasibility of the APRD and ensure the necessary budgetary resources for health in the Multiannual Financial Framework for 2028-2035.
The opinion also recommends that the APRD set common and measurable goals to help define and implement national rare disease plans and strategies, and calls for specific training to strengthen diagnostic capacities across the medical and paramedical professions.
The creation of a European APRD has long been a key priority for rare disease advocates. Following the EESC’s adoption of the new opinion, EURORDIS praised the committee’s commitment to advancing this goal. In particular, they noted that the EESC’s recommendations align with EURORDIS’s advocacy priorities for equitable rare disease care.
Following their adoption of this opinion, the EESC organised a conference titled “For an EU Commitment to Tackling Rare Diseases.” This event, held on 29 November in Budapest under the auspices of the Hungarian Presidency of the Council of the EU, reaffirmed the importance of achieving a European APRD by 2030. More information about the conference is available here.
Overall, the adoption of this opinion by the EESC is representative of the growing momentum for renewing and reinforcing European rare disease policy. Moving forward, this dialogue will need to be translated into concrete actions in order to ensure that all people living with a rare disease in Europe have access to the same high standards of care.
Spotlight
Results of the 5-year evaluation of the European Reference Networks
Last month, the European Commission published the 5-year evaluation report of the European Reference Networks (ERNs) and their member Healthcare Providers (HCPs). The first of its kind, this report demonstrates the important role ERNs are playing in improving rare disease care in Europe, while identifying areas of growth to ensure their continued impact.
The report found that the ERNs are collectively fit-for-purpose, with 100% achieving a satisfactory result, as did 87.68% of HCPs. Specific areas of strength were identified, including well-defined governance frameworks, registry development, and capacity-building for healthcare professionals. Overall, these results demonstrate ERNs’ strong commitment to improving care quality and availability.
While the evaluation’s findings were primarily positive, specific areas for improvement were identified. These include recommendations in the areas of clinical care, patient-centred care, and quality and safety. Further work in these areas will help ERNs to continue to grow their positive impact on the rare disease community.
Summary of key report findings (open in new tab to enlarge)
Finally, the report identifies specific examples of good practice which have been put in place by specific Networks in the different areas of their operational criteria. These include initiatives such as the creation of educational packages on specific diseases (MetabERN) and the involvement of patient representatives in all areas of the Network (Endo-ERN).
It is clear from the findings of the evaluation that the ERNs have had a transformative impact on the European rare disease ecosystem. However, work remains to be done to improve their sustainability and integration into national healthcare systems. It is in this context that the Joint Action JARDIN has been launched, based around the principles of integration, equity and sustainability of ERNs.
The ERNs are cross-border virtual networks which bring together centres of expertise and reference to tackle rare, low prevalence and complex diseases and conditions. Created in 2017, the Networks enable specialists to exchange knowledge and provide advice on optimal diagnoses and treatments for patients affected by rare diseases.
ERN News
Recap of the cross-ERN workshop on spina bifida & other dysraphisms
On 14-15 November, the ERNs eUROGEN, ITHACA and ERKNet organised a workshop on spina bifida and other dysraphisms. This meeting provided an opportunity for knowledge exchange, fostering innovative approaches in diagnostics and care, and showcased the power of collaboration in addressing complex medical conditions.
The first day of the workshop focused on genetics and perinatal evaluation, with expert talks on topics such as advancements in whole genome analysis and foetal surgery. The morning sessions on the second day highlighted updates to the Orphanet classification for dysraphisms, accompanied by insights from care providers and interactive sessions emphasising patient-centric approaches in refining classifications. Finally, the workshop concluded with a lecture on the collaborative development of European guidelines for managing spinal dysraphism and a roundtable discussion on building a database for prenatal cases of dysraphism.
Overall, this workshop underscored the importance of interdisciplinary, inter-network collaboration in tackling rare and complex conditions. The exchanges held over the two days will help pave the way for future innovations, all while demonstrating participants’ shared commitment to improving patient outcomes.
ERKNet surveys on intraperitoneal pressure measurements and green dialysis practices
The ERN ERKNet is currently seeking responses from network members for two surveys.
The first, on intraperitoneal pressure measurements (IPPM), is being conducted in the framework of a study by the ERN’s Pediatric CKD/Dialysis Working Group. It aims to gather insights into current practices and experiences with IPPM in European paediatric dialysis centres. The survey is brief and should take no more than 10 minutes to complete.
The second survey is designed to collect insights on green dialysis practices across referral centres for rare diseases in Europe. These responses will help inform an initiative to explore and promote environmentally sustainable healthcare solutions, organised by ERKNet members in Turin, Italy.
ERKNet/ESPN consensus statement on congenital nephrogenic diabetes insipidus
The ERN ERKNet and the European Society of Paediatric Nephrology (ESPN) recently co-published a consensus statement in Nature Reviews Nephrology. This comprehensive document offers a number of recommendations on the diagnosis and management of nephrogenic diabetes insipidus (NDI) in both adult and paediatric populations. The areas covered include emergency management, genetic counselling and family planning, as well as the need for further research to support the development of evidence-based treatment strategies.
ERN-EYE: Challenges and solutions for delivering new therapies to people with inherited retinal dystrophies
The ERN-EYE has published a new article in Drug Discovery Today, which describes the challenges faced when bringing new treatments to patients with inherited retinal dystrophies (IRDs). The article also outlines possible solutions to these challenges which may be of use to both the IRD and broader rare disease community.
ERN GENTURIS guidelines on CMMRD
The ERN GENTURIS recently published new guidelines on constitutional mismatch repair deficiency (CMMRD), a genetic condition which confers an extremely high and lifelong cancer risk, in the European Journal of Human Genetics. These guidelines, aimed at healthcare professionals, address the diagnosis, genetic counselling, quality of life, and clinical management of CMMRD. These include recommendations such as testing strategies and diagnostic criteria, surveillance modality, and cancer treatment. In total, the article presents 82 recommendations meant to improve and standardise the care of CMMRD patients in Europe.
New ERN eUROGEN brochure for patients and families with ARM
The ERN eUROGEN has published a new resource for patients and families affected by anorectal malformation (ARM). The document, presented in the form of a brochure, summarises the ARM patient journey and offers a concise, visually engaging format for patients, families, and healthcare professionals to familiarise themselves with the condition and obtain support in navigating it.
The brochure was developed by European Patient Advocacy Group (ePAG) representatives associated with eUROGEN. In addition to the information contained in the document itself, the brochure also provides readers with hyperlinks and QR codes directing them to additional resources.
ERN RARE-LIVER survey on social determinants of health
(SDoH) and autoimmune liver diseases. In service of these efforts, the network invites people living with primary sclerosing cholangitis (PSC), primary biliary cholangitis (PBC), or autoimmune hepatitis (AIH) to share information about different domains of their life by filling out a survey. The questionnaire is available here in nine languages (English, Dutch, German, Spanish, French, Italian, Polish, Portuguese, and Greek) and should take approximately 20-40 minutes to complete.
New ERN RARE-LIVER publications
The first, published in the Journal of Hepatology, is a position paper written in partnership with the European Association for the Study of the Liver (EASL) which summarises the available information and evidence on the pathogenesis, diagnosis, and treatment of rare primary liver cancers.
The second article was published in Gastroenterology, and presents the findings of a longitudinal study of patients with severe alpha-1 antitrypsin deficiency (AATD) (Pi*ZZ genotype) which evaluated the natural disease course and surrogates for future liver- and lung-related endpoints.
Looking back on the 2024 ERN RITA General Assembly
The ERN RITA’s 2024 General Assembly was held in October in Utrecht, and brought together network members to review the past year’s accomplishments and reflect on what comes next. Among the many highlights of the event was the launch of the RITA Junior Task Force, created to give a voice to fresh perspectives by engaging younger members of the network. The General Assembly also featured a detailed presentation on the RITA Registry, and the announcement of the implementation of the RITA Directory, a new tool to facilitate internal communication and collaboration.
In addition to the new initiatives outlined above, the General Assembly featured a number of workshops and sessions on a wide range of topics, including Clinical Practice Guidelines (CPGs), molecular testing, and education and training initiatives. These sessions offered an opportunity for members to identify ERN RITA’s priorities for the coming years by sharing insights, reviewing progress, and exploring opportunities for collaboration.
New clinical pathway recommendations for Pompe disease by MetabERN
The ERN MetabERN recently published a new set of clinical pathway recommendations (CPRs) for Pompe disease in the Orphanet Journal of Rare Diseases. This article provides healthcare professionals with an overview of how to deal with diagnosis, resulting therapy, and follow-up in patients with Pompe disease. The authors also propose a methodology for developing CPRs for this pathology, in order to standardise guidelines.
Orphanet News
Available now: Abstracts from the 2024 European Conference on Rare Diseases
The meeting abstracts from the 12th European Conference on Rare Diseases and Orphan Products (ECRD) have been published as a supplement in the Orphanet Journal of Rare Diseases. These abstracts cover a wide range of topics related to rare diseases, including mental health supports, newborn screening, and the diagnostic odyssey.
The ECRD is the world’s largest patient-led rare disease policy event, at which stakeholders have the opportunity to come together and work towards goal-driven rare disease policy. The 12th edition of the conference was held from 15-16 May 2024 in Brussels, Belgium, organised by EURORDIS and co-organised by Orphanet. It brought together more than 700 participants, and resulted in an open letter to the European Commission calling for a European Action Plan for Rare Diseases.
The next edition of ECRD will be held from 2-4 June 2026 in Prague. More information will become available closer to the date.
"Creation of Orphanet Abstracts" course wins UNIGE's 2024 prize for educational innovation
The course “Creation of Orphanet Abstracts,” in which third-year Bachelor of Biomedical Sciences students at the University of Geneva write abstracts on rare diseases for the Orphanet knowledge base, has been awarded the 2024 UNIGE Pedagogical Innovation Award.
Dr Priscilla Soulié and Dr Monica Didier accept the UNIGE award
This project was developed by Dr Priscilla Soulié and Dr Monica Didier in collaboration with the Orphanet Switzerland team. The course’s pedagogical originality lies in its methodology – to successfully complete the course, groups of students must analyse, select, and synthesise scientific literature, then write a descriptive report on the assigned disease while following strict scientific writing guidelines. The texts are then validated by disease experts before being incorporated into the Orphanet base. Each student takes on a specific role, follows a detailed set of requirements, provides self-reflective evaluations of their work, and gives feedback to their peers. This project-based teaching approach promotes autonomy and fosters the development of transferable skills such as teamwork, analytical and synthesis skills, and scientific writing.
In order to better understand how this approach encourages a broader, more practical understanding of rare diseases, OrphaNews asked current and past students about their experiences participating in the course.
Q: In your opinion, what was the most interesting aspect of this course?
“The coursework has the potential to directly impact doctors and patients, which carries with it an added responsibility that isn’t present in other courses.” -3rd year Bachelor’s student (currently enrolled)
Q: Did participating in this course change your understanding of rare diseases? If so, how?
“Taking part in this course made me aware of the lack of knowledge among medical staff regarding the management of rare diseases. I also saw that many rare diseases are known to the scientific community, but the means to detect and manage them are unknown to practitioners.” -3rd year Bachelor’s student (currently enrolled)
“I learned a lot about rare diseases and the difficulties they present to the medical profession, in addition to the personal challenges patients face such as misdiagnosis.” -2nd year Masters student (previously enrolled)
Q: How do you think what you learned during the course will influence you in the future?
“This course helped me to have confidence in my ability to understand scientific literature and relate it to a disease. It also developed my interest in carrying out projects that serve public interests.” -2nd year Masters student (previously enrolled)
“It enhanced my ability to collect scattered information and synthesize it to gain a deeper understanding of diseases…It also inspired me to shed light on rare diseases and to maybe one day contribute to research in this critical area.” -2nd year Masters student (previously enrolled)
Results of the 2023 Orphanet User Satisfaction Survey
The results of the Orphanet website’s 2023 user satisfaction survey are now available online. The survey, which was conducted over six weeks beginning in February 2023, asked users to report their knowledge of and reasons for using Orphanet, their opinion on Orphanet’s products and services and some demographic information.
In total, nearly 10,000 responses were collected. The vast majority of respondents were overall either very satisfied or satisfied with Orphanet, the same result as in 2022. The survey also found that the most common modalities of accessing the Orphanet site are via a search engine, such as Google, and using a mobile device such as a smartphone or tablet. Respondents were primarily healthcare professionals (38%), patients/family/patient organisation representatives (36.7%) and students (11.9%).
The full results of the survey are available as an Orphanet Report Series on the Orphanet site.
Orphanet (INSERM) and SNOMED International renew collaboration agreement
SNOMED International and the French National Institute of Health and Medical Research (INSERM), on behalf of Orphanet, have signed their third consecutive collaboration agreement. This partnership, originally established in 2015, works to standardise the global identification and recording of rare diseases by including content from the Orphanet nomenclature in SNOMED CT. SNOMED CT is the nomenclature system of SNOMED International, and represents a multilingual healthcare terminology in use in 80 countries worldwide. The collaboration between Orphanet and SNOMED International demonstrates the commitment of both organisations to data interoperability, and to improve the lives of people living with a rare disease by making them more visible in health information systems.
The new collaboration agreement continues the work to maintain and update the alignment between SNOMED CT and Orphanet. In addition, both organisations are committed to supporting those requiring and using rare disease content to facilitate better patient care, precision medicine and research. Implementation is key to enable a global picture of rare diseases to provide understanding and allow improved patient management
“The ongoing renewal of our collaboration with INSERM demonstrates that we are building on a foundation of trust and achievement that has successfully delivered SNOMED CT content and product improvement,” said SNOMED International CEO Don Sweete. “We look forward to another five years of successfully working together to achieve our mutual goals to globally improve and transform healthcare delivery for patients and clinicians in the rare diseases domain.”
“This renewed collaboration with SNOMED International aligns with Orphanet’s strategy of contributing to the creation of an interoperable rare disease data ecosystem. ORPHAcodes are the common language between countries and between sectors, for a better recognition of rare diseases, data production and knowledge generation, bringing health data to registries and data spaces. This cannot be achieved without the sustained collaboration with SNOMED since 2015, a collaboration of which we are proud,” said Dr Ana Rath, Orphanet Director.