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Editorial
The 2019 edition of the Universal Health Coverage day includes rare diseases
The Universal Health Coverage (UHC) day was celebrated on 12 December 2019. UHC means that all individuals and communities receive the health services they need without suffering financial hardship. Strong, equitable health systems that leave no one behind are essential to achieving this goal and are in line with the UN’s 2030 Agenda for Sustainable Development. Since the last past two years, EURORDIS, Rare Diseases International (RDI), and the wider rare disease community, have actively advocated for the inclusion of rare diseases in the UN Political Declaration on UHC, as well as the people living with a rare disease to be included in UHC. On 23 September of this year, this became a reality when UN Member States adopted the historical Political Declaration on UHC including a commitment to strengthen efforts to address rare diseases, the first time rare diseases have been included within a UN declaration adopted by all 193 Member States.
Similarly, individuals and communities around the world have been fighting for the right to UHC for decades, and have made great progress in promoting UHC as fair, smart and overdue. During the celebration of the Universal Health Coverage Day, people around the world come together to call for action to make UHC a reality for all. For this year, people are asked to call on their national, European, the United Nations and the World Health Organisation (WHO) representatives to keep their promise of health for all on or after UHC Day. UHC Day is organised by the UHC2030 movement (a Group of Friends of UHC based in New York, and an informal platform for UN Member States, led by Japan, that seek to support and advocate for achieving UHC by 2030), of which RDI recently became a partner. Over 300 million people are living with a rare disease around the world, plus their family members and carers, whose lives are also affected. As a result of a rare disease, these people carry a high burden in many aspects of their lives - physically, financially and socially.
Spotlight
The achievements of the European Union Health Commissioner Andriukaitis 5 year mandate
Photo credit: https://ec.europa.eu/info/events/citizens-dialogues/citizens-dialogue-vienna-commissioner-vytenis-andriukaitis-2018-apr-24_en
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Well-known for his strong commitment for the state of the health within the European Union (EU), and for rare diseases as well, the EU Health Commissioner Vytenis Andriukaitis ended, this beginning of December 2019, his five years mandate as the EU Health Commissioner.
During his time as Commissioner, the European Reference Networks (ERNs) were designated and are transforming the rare disease landscape in Europe. He has lauded ERNs, infrastructures that allow patients with rare diseases to access more opportunities for quicker diagnosis and new therapies as “one of the most amazing examples of EU collaboration for him is in rarediseases: ERNs that allow specialists across EU to change lives of patients that they would not have reached otherwise, by sharing their knowledge and expertise. It wasn’t for granted; it was built by us for us all.”
In one of his speech delivered in June 2019, M. Andriukaitis stated that “there is an issue when it comes to medicines for rare diseases and children, and he recalled the responsibility of the pharmaceutical industry and had pointed out the need to go beyond the letter of the law in order to fully consider the usefulness of the products developed in relation to children.” On another side, the former EU Commissioner focused on three following challenges in the fields of medicines: (i) guaranteeing equal access to medicines; (ii) maintaining a model for the development of medicines that tackles rare diseases and caters for children; and (iii) avoiding shortages of medicines.
In its foreword to the new Companion Report, the country profiles 2019, published on 28 November 2019, former EU Commissioner Andriukaitis said that today, Europe is the region of the world with the highest life expectancy. Yet this progress is slowing down, while inequalities between and within countries are widening. Citizens worry that the lives of their children will be more difficult than their own. The challenges facing Europe continent include climate change, an ageing population, health threats such as antimicrobial resistance, a persistent digital divide and a growing polarisation that undermines Europe evidence-based policies. Business as usual is not enough. The cost of inaction in health can be disastrous, in terms of both human lives and economic impact, he added.
Andriukaitis also gave some advices on how can EU health parties be acting. For him, it all starts with a credible evidence-based approach. This is exactly the objective of the State of Health in the EU. It is an infrastructure to make health system information, expertise and best practices easily accessible to policymakers and policy influencers, and his has been one of his key goals during his mandate as EU Commissioner, in direct response to President Juncker’s mission letter back in 2014. The European Commission has stepped up its collaboration with the Organisation for Economic Co-operation and Development (OECD) and the European Observatory on Health Systems and Policies. The fruits of this collaboration, the biennial Country Health Profiles, have become a staple of knowledge and information among the EU health policy community. From 1 December, Ms. Stella Kyriakides takes over the role of EU Health Commissioner.
ERN News
Interview with Prof. Dr. Irene M.J. Mathijssen, Chairwoman of 24 coordinators of the ERNs and ERN Coordinator of ERN-CRANIO
In an interview by the Sante Newsroom of the Health and Food Safety from the European Commission, Prof. Dr. Irene M.J. Mathijssen gave a summary of the responsibilities of the ERN Coordinators that she is representing and cited among others her role as the co-chairs of meetings of the coordinators with a representative of the European Commission. The coordinators are responsible for the governmental and financial part, and the monitoring of outcomes, of the networks. They initiate several working groups within their ERN that deal with care and research for the involved rare diseases, stimulate research to improve care and reach out to patients and patient advocacy groups to contribute to the ERN goals. In the line of big achievements of the ERNs after the first two years of activity, she pointed out that the development of ERN guidelines on specific diseases is a major achievement, as these guidelines indicate what the standards of care should be. This helps patients throughout Europe in informing them what is needed and at which time, and it helps care providers in raising the bar for quality of care.
On the side of the main challenges and needs ahead that ERNs are facing, she mentioned that the coordinators and project managers are dealing with a vast amount of administrative load to deal with the numerous grant applications, the reporting on these grants, coping with the new applications for affiliated partners and full members, while also wanting to achieve the goals that each ERN has set out for their patients. She added that a lot has been achieve in only 2 years’ time given the dedication of all involved participants, including the European Commission and Board of Member States, and that this will be a challenge to keep this high level of energy going with the limited resources they do have.
841 new clinical units in hospitals requested to become ERN members
Following the two months call (from September to November 2019) for membership to the European Reference Networks (ERNs), 841 new clinical units requested to become ERNs members across Europe. The call closed on the 30 of November and the full evaluation process is now starting to determine which of the applicants will eventually join the ERNs. The ERNs already count 953 members and have recently included 247 Associated National Centres and 4 National Coordination Hubs as Affiliated Partners. The ERN call for membership gives the possibility to the clinical units of European hospitals with appropriate expertise to join the current networks, especially in countries where the ERNs are not yet represented by full members. This is mainly the case in Eastern Europe and smaller countries, where participation is more limited or in certain cases absent.
At present, the applications submitted to the European Commission will now undergo a precise evaluation process (the “assessment programme”), which was set up to select the members of the ERNs, and was developed by the European Commission in consultation with the Member States and key stakeholders. It was applied for the first call for ERNs launched in 2016 and has recently been updated taking into account some changes contained within the Commission Implementing Decision (EU) 2019/1269 of 26 July 2019 amending Implementing Decision 2014/287/EU.
The ERN-EuroBloodNet Board of Network held its 3rd meeting
The 3rd ERN-EuroBloodNet Board of Network meeting took place on 13 and 14 November, in Vall d’Hebron University Hospital, Barcelona, and was attended by more than 80 persons, among them member representatives, patients’ organizations, and candidates for new members, affiliated partners and collaborating stakeholders as the European Hematology Association (EHA), the European School of Hematology (ESH) or International Quality Expertise (UKNEQAS).
The topics of the meeting were the following: (i) a Plenary Session and Round table on European Reference Networks (ERNs) Consolidation and Sustainability; (ii) the impact of ERNs at hospital level and national health systems; (iii) the ERNs consolidation and long-term sustainability by Enrique Terol; and (iv) the European Joint Programme (EJP) on Rare diseases and its links to ERNs.
ASCAT and ERN-EuroBloodNet workshop on Sickle Cell Disease Research Prioritisation
The Annual Scientific Conference Sickle Cell and Thalassaemia (ASCAT), and the ERN-EuroBloodNet organised the annual Sickle Cell Disease (SCD) Research Prioritisation Workshop, the 2019 edition, which focused mainly on the SCD scientists’ research and on a “top 10” list on what people living with SCD would like the research community to focus on. The top 10 list is the following:
- How can we find a universally available cure for sickle cell disease?
- How can we improve quality of life for people living with sickle cell disease?
- What are the implications of sickle cell disease for work and education? How do we advise people, employers and schools?
- How do we manage acute pain to prevent hospitalisation?
- How does staff diversity or lack of diversity affect the way patients experience racism, discrimination and stigma?
- How do we harness the political agendas to improve care for sickle cell disease?
- How can we optimize pregnancy for mother and baby in sickle cell disease?
- What complementary therapies work in sickle cell disease, including CBD oil and cannabis?
- How do we manage chronic pain?
- What is the impact of a comprehensive care team on outcomes for people living with sickle cell disease?
The meeting has provided the perfect opportunity for patients to experience what Patient and Public Involvement is, while demonstrated that the medical profession is willing to change and listen to the patient voice. SCD is an inherited disorder of the red blood cells, and a lifelong chronic condition that can lead to disability or even premature death in its severe forms. Up to now, SCD is one of the few rare anemias that do not have, in every country in Europe, an adequate educational contribution to daily management of the disease. The ASCAT is one of the must attend events of the year for consultants and specialist psychologists, nurses, scientists and all relevant experts. The event is an ideal opportunity to see the latest advances in diagnosis, treatment and emerging fields in haemoglobinopathies.
3rd EURO-NMD Annual Meeting 2019
The 3rd EURO-Neuromuscular diseases European Reference Network (EURO-NMD ERN) three days annual meeting took place in Ferrara, Italy, from 6 to 8 November, and was attended by over 100 delegates, whose backgrounds ranged from clinicians, researchers, patient representatives through to industry. Diverse activities were organized, such as a workshop on genetics, and also, an on-site that had bringing together members of eleven working groups dedicated to pathologies or cross-cutting topics such as education or imagery. The parallel meetings helped to work further on their roadmap for the future, as well as to review business.
Orphanet News
European Conference on Rare Diseases 2020: Call for posters
The European Conference on Rare Diseases & Orphan Products (ECRD) will be held on 15-16 May 2020 in Stockholm. The event is organised by EURORDIS, and co-organised by Orphanet and is recognised globally as the largest, patient-led rare disease event in which collaborative dialogue, learning and conversation take place, forming the groundwork to shape future rare disease policies.
Drawing together more than 800 participants from over 50 countries around the world, ECRD is where innovative solutions in the rare disease field are born. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community- patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators. The main theme of ECRD2020 is 'The journey of living with a rare disease in 2030', with the aim to inform and discuss the shape of a future ecosystem for rare disease policies and services.
The call for posters is open now until 10 February 2020 around 7 themes and an additional open topic:
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, Rare: 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
Theme 7: Rare Disease Patient Groups Innovations.
Registration for the event will open on 18th November, with early bird tarifs up to 20 March 2020. A patient advocate Fellowship Programme is also operated for up to 40 patient advocates to attend the event.
- To read more about “ECRD site”
Orphanet publishes the results of its 2019 Satisfaction Survey
Orphanet carried out a two-part in-depth survey to gather feedback from its users in the first quarter of 2019. The results have just been published. A total of 10,086 users gave answers to the questions this year. The global satisfaction of Orphanet website users was evaluated taking into account 4,369 answers corresponding to those given by those who were not first-time users. 93% of respondents were either very satisfied or satisfied with Orphanet. Around 12% of those answering the survey are regular users, whereas 44% were visiting Orphanet for the first time, the remaining 44% visited either over twice a month, or over twice a year.
The first part of the survey aims to find out more about our users, which services and types of data they use and what they think generally of Orphanet. The second part of the survey asks more specific questions about different services and data. The detailed results can be found in a dedicated Orphanet Report Series.
Orphanet report: List of medicinal products for rare diseases in Europe
The Orphanet report was published in October 2019, and is now accessible on the Orphanet’s website. The report is providing the list of orphan medicinal products in Europe with European orphan designation and European marketing authorization as well as the list of medicinal products intended for rare diseases in Europe with European marketing authorization without an orphan that have received a European Marketing Authorisation (MA) at the date stated in the document.