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Making rare the priority


Virginie Bros-Facer of EURORDIS-Rare Diseases Europe reflects on the progress that has been made in tackling rare diseases and considers the challenges that lie ahead


A rare disease is so-called in Europe when it affects less than one person in 2,000, but this figure enters into the tens of millions when taking into account the more than 6,000 rare diseases that are currently known. Largely genetic in origin, often chronic, degenerative or life-threatening, and commonly mis- or undiagnosed, rare diseases are characterised by a wide range of disorders and symptoms that vary not only between diseases but also between patients suffering from the same disease.

EURORDIS-Rare Diseases Europe was established in 1997 to advocate on behalf of the more than 30 million people living with a rare disease in Europe. Non-governmental and patient driven, the organisation works to raise the profile of rare diseases, improve access to information, treatment, care and support, and promote scientific and clinical rare disease research, particularly in relation to orphan drugs and therapies.

The rare disease landscape has made significant strides forwards in the two decades since EURORDIS was founded: gone is the near ignorance that surrounded rare diseases just 20 years ago; in its place, national rare disease strategies, specialised centres of care and a strong patient community – backed by a global recognition of rare diseases as a public health priority.

EURORDIS has been instrumental in driving this progress, but is now looking to new ways to improve the lives of people with rare diseases which put patient engagement – in research, in healthcare services, in medical and social care, and in the lifecycle of medicinal products – at their heart.

Speaking to Pan European Networks, Virginie Bros-Facer, EURORDIS’s research infrastructure project manager and the chair of RD-Connect’s Patient Advisory Council, reflects on what has already been achieved and outlines the work still to be done.

How far would you agree that rare diseases are sufficiently recognised as a public health priority in Europe?

EURORDIS, its members and other patient organisations have for many years been advocating for rare diseases to be put at the top of the policy agenda – both nationally throughout Europe and at the European level itself. I think we can say that since 1999 rare diseases have been recognised by the EU as a public health priority.

That achievement has been made possible by several actions undertaken by EURORDIS and others, among them the adoption of the 2008 commission communication on rare diseases, as well as the 2009 council recommendation on an action in the field of rare diseases. EURORDIS also promoted the implementation of the 2011 EU directive on patients’ rights in cross-border healthcare and supported the development of national rare disease plans in most of the member states. But it’s crucial that we do not stop here. As patient advocates, we must continue to promote strategies to ensure that rare diseases remain on the agenda and continue to be recognised as a public health priority in Europe and around the world.

To this end, there are several initiatives taking place globally which aim to make rare diseases a priority on the international stage – for instance, the NGO Committee for Rare Diseases, which brings together knowledge and experts to promote rare diseases as a priority in global health, research and also social and medical care, within the framework of the United Nations and the rare diseases-related Sustainable Development Goals (SDGs). The NGO Committee was initiated in 2014 by EURORDIS and the Ågrenska Foundation, Sweden’s National Competence Centre For Rare Diseases, and approved by a vote of 27 CoNGO (Conference of NGOs in Consultative Relationship with the United Nations) member organisations that same year, before being launched in October 2015 and then formally inaugurated at the UN Headquarters in New York, US, in November 2016. It is still a relatively new initiative, therefore, but is nonetheless a very important one.

Rare Diseases International, another EURORDIS initiative, brings together national and regional rare disease patient organisations from all around the world, as well as international rare disease-specific federations, and together they create the global alliance of people living with a rare disease – whatever their nationality and whatever their disease. Its mission is to act as a strong, common voice with which to advocate on behalf of all people living with a rare disease and to give those people, and their families, the tools they need to advocate for themselves at an international level.

Part of my role at EURORDIS involves working with the undiagnosed community to recognise their needs as a specific group of people within the wider rare disease landscape. Undiagnosed Diseases Network International (UDNI) was founded in 2014 to address the unmet needs of undiagnosed patients at the global level and is supported by the NIH Common Fund and the Wilhelm Foundation in Sweden, a patient group set up by two parents who lost their three children to an undiagnosed brain condition. UDNI members join on a voluntary basis and receive no specific funding, but they organise conferences where they meet and share best practices and also models for data sharing to try and solve complex undiagnosed cases. Again, UDNI is helping to keep the conversation around rare diseases going at a global level.

Funds dedicated to rare disease research have increased over the last few decades – what, then, is holding back scientific knowledge and understanding of rare diseases?

The science is advancing at a very significant pace thanks to the discovery of new disease-causing genes and also new therapeutic targets for rare diseases – which are being monitored by the International Rare Diseases Research Consortium (IRDiRC), a consortium of research-funding agencies and other interested parties which work together to accelerate research through collaborations – but despite these important developments, several challenges remain, one of which is fragmentation of the research effort.

To improve this, and it very much can be improved, it’s crucial that we as a European community create an integrated ecosystem in the field of rare disease research that will enable the successful translation of research efforts into concrete benefits for patients. It’s also important that we make better use of the data and resources that already exist to enable faster progress.

Clinical trials need to be designed to take into consideration the specificities of rare diseases. IRDiRC has a taskforce in place which is working to design clinical trials that will enable the more effective translation of therapies for small disease populations, and there are a number of European projects which are attempting to do the same. Again, that can only achieved by having a co-ordinated effort across the different European countries and beyond.

Policy makers at national and European level are aware of these challenges, and are already working together to create a new, specific and innovative programme for rare disease research, so I do think that in the coming years we will begin to see a better integrated and more collaborative system that links separate efforts together, makes more clinical trials possible, and more effectively translates progress in research into meaningful improvements for rare disease patients.

Are rare disease patients sufficiently engaged and empowered in the research, policy making and care processes?

At EURORDIS we have developed a number of different committees and advisory groups which are helping to integrate patients into the decision making bodies influencing rare disease research, policy and therapy development. Patients have therefore become an important and integral part of the medicines development decision making process at the European Medicines Agency (EMA), where they participate, for example, in the Committee for Orphan Medicinal Products (EURORDIS CEO, Yann Le Cam, was one of the first patient representatives to be appointed to this committee and also served as its vice-chair for six years), the Committee for Advanced Therapies, the Paediatric Committee, and the Scientific Advice Working Party. From 2007-2015, 743 patients and consumers were involved in EMA activities, and EURORDIS itself has since 2008 facilitated the involvement of 170 patient experts in protocol assistance for the EMA.

EURORDIS has also run capacity building programmes to equip patients with the skills and confidence they need to participate in other committees – for example, the European Commission Expert Group on Rare Diseases and European joint actions on rare diseases and rare cancers.

This involvement has been made possible in part thanks to the EURORDIS Summer School, which we’ve been organising for several years now and which enables patients to gain an understanding of the product development environment so that they might be able to make an impact on it.

Patients have also become more engaged in policies on healthcare pathways through the recent establishment of the 24 European Reference Networks (ERNs) for rare and complex diseases, an EU initiative which pools the expertise and resources of more than 900 healthcare units across the member states to facilitate access to diagnosis, treatment and the provision of affordable, high-quality and cost-effective healthcare. The ERNs create a clear framework for knowledge sharing and care co-ordination across Europe and effectively mean that it’s not the patient who has to travel but the expertise.

EURORDIS has played a crucial role in establishment and development of the 24 European Reference Networks (ERNs) and the creation of 24 European Patient Advocacy Groups(ePAGs) involving over 100 ePAG patient representatives and many more patient organisations. The ePAGs bring together elected patient representatives and affiliated organisations to ensure that the patient voice is heard throughout the ERN operational process.

How can we more effectively address the specific needs of the undiagnosed community?

Difficulty obtaining a correct diagnosis is the first hurdle many rare disease patients face, and it can take a number of years to overcome. In fact, some patients might never receive an accurate diagnosis. The problem with that is that late or no diagnoses often delay the start of adapted therapies or treatments and can therefore have very severe and sometimes even life-threatening consequences for patients.

Significant progress has, however, been made in improving diagnosis and access to diagnostics for rare diseases. Through our involvement in the European Commission Expert Group on Rare Diseases, EURORDIS contributed to the development of the recommendation on cross-border genetic testing of rare diseases in the European Union, which advised that obtaining an accurate and timely diagnosis is a priority for all people with a potentially genetic rare disease, and we have also found from speaking to patients that active participation in projects such as RD-Connect, which links together different resources for rare disease research, can help to improve the diagnosis experience.

There’s also been an increase in the development of specific projects across Europe to improve diagnoses for undiagnosed patients. This is thanks in part to Undiagnosed Diseases Network International, but it has also been driven by SWAN UK (Syndrome Without A Name), a national support network for families of children and young adults with undiagnosed genetic conditions run by Genetic Alliance UK. The Wilhelm Foundation, NORD and CORD (the US and Canadian organisations for rare diseases, respectively), ASrid (the Advocacy Service for Rare and Intractable Diseases’ multi-stakeholders in Japan), and Rare Voices Australia have also made really great efforts to advocate for the needs of undiagnosed patients, and through these collaborations we have seen, as an example, improved access to next-generation sequencing, which is not a means of diagnosis for all undiagnosed patients but is definitely needed for many complex rare diseases.

EURORDIS recently joined up with these groups to publish a joint list of international recommendations to address the specific needs of undiagnosed rare disease patients,which, among other things, calls on all stakeholders to recognise undiagnosed patients as a specific population within the rare disease community.

Several patient groups in Europe came together on Undiagnosed Children’s Day this April to launch SWAN Europe,a coalition which unites European and national patient organisations working to support and empower families affected by syndromes without a name. Through SWAN Europe we want to do provide a forum for information sharing, increase the visibility of syndromes without a name and the many new rare diseases which have not yet been characterised by the scientific community, and facilitate networking by providing a point of contact within Europe to support interaction between the different rare disease networks and also to support the growth of the undiagnosed community. SWAN Europe is also working towards building a platform for the undiagnosed community to have a voice in policy development in Europe.

People with undiagnosed conditions can sometimes feel quite isolated and apart from the rest of the rare disease community, so including them more fully is an important goal that we are working towards achieving.





EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 700 rare disease patient organisations from more than 60 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe. By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services. Follow @eurordis or see the EURORDIS Facebook page. For more information, visit





Virginie Bros-Facer, PhD

Research Infrastructure Project Manager

EURORDIS-Rare Diseases Europe

This article will appear in issue two of Pan European Networks: Health, which will be published at the end of August.

Pan European Networks Ltd