Six key messages from Rare Disease Day 2014 toward better care

We are breaking the isolation and despair of children and adults amongst the most vulnerable citizens in our society today.

Join Together for Better Care is the precise and strong common message launched by patient groups and stakeholders from 83 countries and regions on Rare Disease Day 2014!

In hundreds of cities, thousands of patient groups and hundreds of thousands of volunteers all mobilised to successfully generate massive media attention and policy-makers engagement.

From Rare Disease Day 2014, focusing on partnering to improve care for all, six key messages have emerged to shape our future actions:

1/ Now is the right time to launch “The International Voice of Rare Disease Patients” embedded in the Rare Diseases International network.

By bringing together all 6000 different rare diseases across Europe, EURORDIS – Rare Diseases Europe has created a critical mass of 30 million people with rare diseases who can no longer be ignored. We help identify and address the common issues patients and their families face. We call for public attention and social justice. We help shape a favourable environment to generate positive actions.

Most of the patients groups throughout the world we invited to answer our survey responded with enthusiasm; and 96% of the 100+ respondents are willing to join in this international initiative. By bringing together rare disease national alliances, rare disease specific international federations or networks and isolated patient groups from six continents through the Rare Disease Day annual awareness campaign and the RareConnect multi-language platform of online patient communities at global level, EURORDIS already forges de facto an international movement for rare diseases.

This movement will be enhanced with the upcoming launch of EURORDIS – Rare Diseases International, the network of rare disease patient advocates, to build our capacities through information and experience exchange and through collaboration, in order to speak with one voice at the global level, on behalf of an even greater critical mass of millions of People with Rare Diseases.

Our determination is as strong as our long-term ambition to turn rare diseases into a public health priority at national, European and global levels.

The National Organization for Rare Disorders (NORD) motto changed from its pioneering times: “Out of the Darkness into light” to “Alone we are Rare. Together we are Strong” while the EURORDIS motto is “The Voice of Rare Disease Patients in Europe”. All three of these slogans are valid to describe the rise of rare disease patients around the world from ignorance to recognition, from isolation to unity, from silence to voice.

As the situation of rare disease patients improves over the next years and decades, we cannot create fortresses of access to care from which the poorest patients in rich countries would be excluded, nor from which patients from emerging countries or developing countries would remain excluded. The life of one person has the same value as the life of any other – in any part of the world. Solidarity does not end at our borders. Solidarity should not be merely a concept displayed on the screen of our computers when making information available worldwide, while real care is inaccessible to many, as if it were a precious object in the locked window of a jeweller’s.

2/ The European approach for a comprehensive, integrated and long term strategy stimulates similar approaches in more countries.

In Europe, the 2008 Commission Communication Rare Diseases: Europe’s Challenges followed by the 2009 Council Recommendation on an action in the field of rare diseases, and the 2011 Directive on Patients’ Rights to Cross-Border Healthcare completed the 1999 EU Regulation on Orphan Medicinal Products, establishing a comprehensive and integrated EU strategy for research, diagnostics, treatment and care.

This structured strategic approach to the specific research and public health challenges of rare diseases is inspiring other regions in the world: Canada, Brazil, Mexico, Russia, Australia, New Zealand are amongst countries joining those who are already engaged: the USA, Taiwan, Japan, Singapore, and South Korea.

3/ The year 2014 is a turning point to initiate and deepen more structured actions for the next 10 years.

EU Member States’ plans or strategies on rare diseases will be consolidated while being increasingly integrated into European common approaches, with European Reference Networks and European Research Infrastructures providing new opportunities for translating important scientific breakthroughs into innovative treatments, and advances in information technology into knowledge generation. All of these efforts are aimed at better care. The two EU Programmes Health for Growth (2014-2020) and Horizon 2020 are expected to support long term actions to reach these objectives, while the Innovative Medicines Initiatives – IMI 2 will provide new opportunities for public-private partnership in pre-competitive areas for the health industry. At the same time, the International Rare Diseases Research Consortium (IRDiRC) is federating the strategies of all major funders of rare disease research across the world with the aim to create diagnostic tools for most rare diseases and 200 new approved rare disease therapies by 2020.

4/ Medical Care and Social Care need to be brought closer.

Each rare disease affecting patients is complex and requires multidisciplinary high level medical and paramedical competences. Each Person Living with a Rare Disease has both medical and social challenges to face. Patients need to be placed at the centre of a holistic approach. People with Rare Diseases are not a kaleidoscope with sharply-cut facets in different colours: the geometry of fragmented public policies separating prevention and primary care from hospital care; medical diagnostics from social diagnostics; medical care from social support and services; social services and support from compensation for incapacities; with layers of responsibilities between local, regional and national authorities. This is simply non-sense: Non-human sense! Non-Policy efficiency sense! Non-Cost Effectiveness sense! Care is much more than a diagnostic tool or an innovative treatment. Care comprises all these different aspects to put patients at the centre with respect and kindness; to empower patients to master their life and engage to the maximum of their possible decisions and actions.

5/ The financial and economic crisis is not a reason to stop acting in favour of People with Rare Diseases; to the contrary!

In tough times, the principle of social justice calls to increase action in support of the most vulnerable members of our society, including the elderly, people affected by neurodegenerative disorders, people with learning and behavioural disorders, poor and isolated people, and people living with rare diseases.

There are numerous policies and actions which do not cost much in terms of new resources at regional and national levels and yet which can make a huge difference. Quality information and orientation, engaging therapeutic education, efficient organisation of multidisciplinary centres of expertise, good practices of diagnostics and care, mutualisation of expertise at national / European / International levels, and much more. The economic challenges oblige all stakeholders to be smarter than ever in the optimal use of rare resources. These low-cost actions need to be performed first and permanently. Rare diseases, at the margin of mainstream public health or healthcare systems, offer a goldmine of innovation and new paradigms transferable to all health policies and sectors.

Solidarity and creativity in caring about each other contribute to making our society a better place to live for everybody.

6/ Overall, and this may be the main message to take from this Rare Disease Day 2014 dedicated to “Care”: These goals can be achieved only through empowered patient advocates partnering with all stakeholders and policy makers, reaching out across society at large, to defend the core values in which our civil society actions are rooted. Rare Disease Day is an essential action which simultaneously offers the aim, the method and the tools toward achieving empowered rare disease patient groups around the world!

Rare Disease Therapies: Unlocking Europe’s Potential

 The 2008 Commission Communication Rare Diseases: Europe’s Challenges, the 2009 Council Recommendation on an action in the field of rare diseases, and the 2011 Directive on Patients’ Rights in Cross-border Healthcare complement the EU Regulation on Orphan Medicinal Products (EC) No. 141/2000, establishing a comprehensive and integrated EU strategy for rare disease research, diagnostics, treatment and care.

2014 is a turning point for the next decade.

After 15 years of actions promoting rare diseases as a public health and research priority, 2014 opens a new phase for actions on rare diseases in Europe: a more structured, systematic approach with a few clear common objectives optimising synergies and outcomes and ensuring a long-term impact.

National plans for rare diseases will be consolidated and increasingly integrated into common European approaches. European Reference Networks for rare diseases should progressively bring together Centres of Expertise and national experts as well as diagnostic laboratories; all sharing common missions of data collection, creation and maintenance of registries, best practices for diagnosis and care, telemedicine, and clinical trials. This vision is clear and outlined in the respective EUCERD Recommendations.

The challenge lies in ensuring that this vision is well-conceived and properly funded in ongoing calls, in order to ensure that European Research Infrastructures on Rare Diseases will be integrated and geared toward development of diagnostics and/or therapies. This will permit a comprehensive and sustainable leading European platform of world-class potential to be developed.

While conceived as information systems to manage patients’ data, European Reference Networks and European Research Infrastructures provide additional opportunities to translate research into innovative treatments, and information technology into knowledge generation, ultimately leading to better patient care.

  • EU Programmes for 2014-2020 Health for Growth and Horizon 2020 are expected to support actions to achieve these objectives.
  • Innovative Medicines Initiatives (IMI 2) – will increase its multiyear budget and duration and recognises that rare diseases are a strategic area for more pre-competitive collaboration and public-private partnership, aiming for progressive patient access to medicines.
  • International Rare Disease Research Consortium (IRDiRC) – aims at developing diagnostic tools for most rare diseases and 200 new therapies for rare diseases by the year 2020. The consortium and its widely shared aims provide an opportunity to synergise the potential of main public and private funders around the word through common policies.


In this context, a few stakeholders, including some Member States’ payers, niche pharmaceutical companies, and patient groups, have criticised the EU Regulation on Orphan Medicinal Products. They claim that the Regulation is responsible for the high prices of some orphan medicines, the market exclusivity incentive blocks entry of innovative products, and that there is a need to fragment ultra-rare from rare diseases. Most, if not all, of this criticism, stems from misconceptions or short-sightedness.

However, there is overall a broad and robust consensus across the majority of patients, industry, academia, Member States, and the European Commission that there is no need to revise the EU EU Regulation on Orphan Medicinal Products. The rare disease and orphan medicine community needs stability, predictability and clarity in order to deliver better outcomes.

Nevertheless, there is a well-recognised need to address issues such as: insufficient scientific and medical knowledge for most rare diseases; insufficient knowledge on natural history and a lack of a wider range of endpoints or patient relevant outcomes; low success rate (or bottleneck) from designation to market authorisation; high R&D costs of rare disease therapies due to lack of innovative design or statistical methods and rigid regulatory pathways; gaps between EU centralised regulatory procedures and national health technology assessments or pricing and reimbursement decisions; poor access to new medicines for patients as well as outstanding delays and discrepancies across Member States resulting in a ‘life lottery’ for millions of rare disease patients in Europe.

We know how to address these challenges. Innovative solutions have been developed over the last five years through intense multi-stakeholder dialogue, public consultation, mandated experts groups and consensus opinions. These now need to be piloted, supported, and, if positive, expanded.

This 20th Workshop of the EURORDIS Round Table of Companies aims at “Unlocking Europe’s Potential in Rare Disease Therapies”. This exciting event will gather Experienced and knowledgeable chairpersons, speakers and panelists from the European Commission, European Medicines Agency, pharmaceutical industry and patients’ representatives to discuss these issues in Brussels on 26 February 2014.

2014 is a turning point for rare diseases in Europe and a busy agenda awaits EURORDIS!

2014 begins with the celebration of a milestone: EURORDIS now has over 600 member patient organisations (606), located throughout 56 different countries, including 526 full members in 26 EU countries, and representing over 4000 different conditions! We extend a warm welcome to our newest members. In addition, EURORDIS has adopted a membership re-assessment process to regularly review that its existing members still fulfill all criteria; its implementation starts in 2014. To learn more about the criteria for joining EURORDIS and about the re-assessment process, consult the EURORDIS Membership information section of our website section of our website, available in seven languages. As our movement grows, we look forward to standing shoulder-to-shoulder with all EURORDIS members in our mission to build a strong pan-European community able to speak with one voice, to act together and to engage with all stakeholders to create positive change for all people living with rare diseases.

We hope to see many members at the upcoming capacity-building Membership Meeting as well as the European Conference for Rare Diseases and Orphan Products-ECRD 2014 Berlin taking place in Germany 8-10 May, expected to be a milestone in 2014 by bringing to the surface the many achievements of the dynamic multistakeholder rare disease community in Europe while beating the drums of future policy priorities.

EURORDIS will expand its outreach in Central & Eastern Europe throughout 2014 including more patient groups, supporting efforts in the region to raise awareness, create national alliances, and promote rare disease policies. Also, we will continue to provide our website & eNews in Russian and offer Russian interpretation at ECRD 2014 Berlin.

Three strategic initiatives will strengthen rare disease community building:
- “Common Goals & Mutual Commitments between National Alliances in Europe & EURORDIS: An agenda between 2014 & 2020”: through this recently adopted initiative EURORDIS will foster the convergence and collaboration with and between the National Alliances and all its member organisations
- “Rare Diseases International”: will be launched as an informal global network of rare disease patient organisations able to speak with one global voice. Turning rare diseases into an international movement is a current priority for EURORDIS.
- “RareConnect”: with its 50 international moderated social forums, which are rapidly growing, EURORDIS will scale up this platform in 2014 and expand its utility, creating more online rare disease communities and topic groups, extending translations from 5 to 7 languages adding Portuguese and Russian, developing new functions, and exploring partnerships, in particular with academic researchers.


As declared last year by Herman van Rompuy, President of the European Council, “In the European Union, rare diseases are now one of the main priorities for public health and research policies. With the constructive support of EURORDIS, several policy initiatives have been established over the past decade”. After 15 years of relentless efforts to create this rare disease community and promote the cause of people living with rare diseases, 2014 is a turning point as we enter a new phase over the next 5 to 10 years, as national rare disease strategies will be enhanced and deepened while being increasingly integrated into European common approaches. European Reference Networks of Rare Diseases and European Research Infrastructures will provide new opportunities for translating research into innovative treatments and information technology into knowledge generation, toward better care. These goals can be achieved only through empowered patient advocates partnering with all stakeholders and reaching out across society at large.

A main and foremost key advocacy priority for EURORDIS is to continue supporting the development of national rare disease plans/strategies throughout Europe and beyond, a cornerstone to turn our vision into real change for patients and families. As these plans/strategies develop, the advocacy activities become more technical and require refocusing, while enhancing an exchange of best measures across Europe. EURORDIS’ active participation in the new European Commission Expert Group on Rare Diseases (succeeding the European Union Committee of Experts on Rare Diseases) with its EURORDIS Policy Action Group will be essential in reaching that goal. Monitoring the State of the Art of rare disease policies, developing Recommendations & the follow- up on their implementation are two 2014 challenges for: Centres of Expertise, European Reference Networks, Cross-border Healthcare, registries, access to orphan drugs, coding of rare diseases, social policy and services, as well as national plan indicators. Monitoring the implementation of the EU Directive on Patients’ Rights on Cross-border Healthcare, supporting the development of an EU Platform on Rare Disease Registries, participating in new long-term infrastructure projects on registries, biobanks, and –omics, and supporting clinical research are other areas EURORDIS will pursue.

Rare diseases are now a sustainable policy and budget priority in EU policy programmes through 2020 – particularly the 3rd EU Heath Programme (Health for Growth) and the 8th EU Research and Technology Framework Programme (Horizon 2020); stimulating an ambitious implementation is another key advocacy priority for EURORDIS in coming years.

EURORDIS will continue to be extremely vigilant on the future EU Regulation on Data Protection; essential issues are at stake for people living with rare diseases. As the policy debates and voting come to a close in 2014, we need to be certain that this EU legislation will protect citizens from abusive use of their health information while not being detrimental to health research; if not, EURORDIS will take initiatives to promote the right trade-off for a fair public health policy.


The European Medicines Agency’s Committee for Orphan Medicines (COMP) held its 150th meeting in 2013. EURORDIS has actively participated in the designation of over 1200 orphan medicines to date, including protocol assistance, paediatric studies and overall clinical development up to marketing authorisation. New in 2014, EURORDIS is actively engaged in the International Rare Disease Research Consortium (IRDiRC) leading the Therapeutic Scientific Committee to reach the goal of 200 new orphan medicines by 2020, while co-leading the Stakeholder Forum of the European HTA Network and other related Working Groups on Patient Reported Outcomes in partnership with relevant learned societies.

As more products enter the developmental pipeline, it is crucial that mechanisms are in place to ensure equitable access across Europe.

Earlier, Wider, Equitable, Sustainable Access to Medicines are thus key words for 2014 and EURORDIS has forks in different fires for improving access to medicinal products and services, including plans to promote and participate in dialogue around Medicine Alternative Development Pathways, and contributing to pilots for Common HTA Assessment Reports as well as for the Mechanism of Coordinated Access (MoCA) to orphan medicines to promote Member State collaboration around a common value for new orphan medicines. Similarly, EURORDIS will promote European collaboration on pricing based on value, volume, and post-Marketing Authorisation data generation, also exploring Managed Entry Agreement and Equitable Pricing mechanisms for improving access

An Access Campaign will be launched in 2014 to assess the difficulties patients currently experience in getting medicines and medical care and to promote targeted solutions. EURORDIS is adopting a Working Paper addressing the impact of the economic crisis on people with rare diseases as countries across Europe tighten spending on health and other areas.

New and innovative EURORDIS website sections dedicated to medicines associated with position papers and capacity building sessions are now in place for 2014. The section on Pharmacovigilance & patient reported adverse events created in 2013 will be promoted through 2014. A new section on Compassionate Use exploring how patients with no adequate treatment might be eligible to access a medicine on a compassionate use basis will be available from February 2014. Shortages of Medicines and how to address the related challenges is another area of focus.

In parallel, the EURORDIS Summer School Session 2014 on Medicines Development, Clinical Trials, EU Regulatory Affairs and HTA will train an additional 40 patient advocates. The 250 alumni are regularly further supported by eLearning training modules, regular webinars on specific topics, monthly reports and exchanges.

It is time in 2014 to create a EURORDIS Panel of Experts. Respect and influence of EURORDIS opinions are growing, while the complexity of policy issues to be addressed demands greater input from a variety of experienced and committed leaders in the fields.

Rare Disease Day 2014

EURORDIS continues to increase resource allocation to coordinate Rare Disease Day and is looking forward to wide participation all around the world in 2014 to promote rare diseases as an international public health priority. The website has been revamped to offer more information and be even more user-friendly. As always, EURORDIS is organising a Policy Event for the occasion. To be held on 25 February 2014 in Brussels, this multi-stakeholder gathering will reflect the Rare Disease Day 2014 theme of Care by putting the focus on Improving Access to Rare Disease Care: The Vision of Patients.

Rare Disease Day will also be celebrated by the 3rd EURORDIS “Black Pearl” Gala Dinner to promote the cause and support for rare diseases and featuring our first Rare Disease Day Ambassador, Sean Hepburn Ferrer. The impressive roster of 15 high level Honorary Patrons includes European Parliament President Martin Shultz, Her Highness Princess Anne de Ligne, the First Ladies of Croatia, Macedonia and Malta, Health Ministers and Ambassadors from the United Kingdom, Germany, France, Denmark, Ireland, Luxembourg, Monaco, and Canada; and the unique support of our Gala Committee and corporate partners. This event will be the occasion to recognise outstanding international achievements and commitment to rare diseases through the increasingly prestigious and significant EURORDIS Awards 2014.

Throughout 2014, EURORDIS will continue to provide up-to-date information for patient advocates and patients & their families. Our website and eNews will continue to provide reliable useful information and serve as a voice for the EURORDIS rare disease community to come together and share our news, our strength, our actions, and our commitment. EURORDIS TV and our Social Media on Facebook and Twitter will be highly supported to make our communication lively and interactive. Information that facilitates capacity-building and empowerment are especially emphasised. The recently launched EURORDIS InfoHub will be fine-tuned to ensure an optimal performance, allowing users to find the information they need.

Cross-Cutting support

The contribution of EURORDIS Volunteers is impressive in terms of high level competences, personal skills, intense and long term commitment, and diversity of diseases, countries and languages. As the number of Volunteers grows rapidly, EURORDIS will recognise this unique feature for a European Civil Society Organisation by adopting a Charter of EURORDIS Volunteers, at its General Assembly 2014, including mutual commitments and best practices to support volunteers; by launching a new section on the EURORDIS website; and by systematically including more volunteers in all activities.

The team of 30 staff, reorganised and strengthened in 2013, will remain stable in 2014 with the addition of a fund-raising manager. After the consolidation of our offices in Paris and Brussels in previous years, our office in Barcelona, dedicated to RareConnect & Social Media, will be consolidated in 2014.
The development priority in 2014 will be the elaboration and submission of new projects aligned with the above strategic priorities as well as new initiatives in fund raising to grow and diversify our private resources.

Thus, we look forward to sharing an active, productive 2014 together with all our friends in the rare disease community.

Animal research: ‘Caterina Simonsen deserves our full support’

Just before Christmas 2013, Caterina Simonsen, a 25-year old women with a complex history of rare diseases posted on Facebook a ‘Thank you’ message for those involved in animal research as well as the animals used. It was only a few days after the Italian Telethon television action 2013, which brought together more than 30 million euro for research in the rare disease area. With her message, Caterina stressed also the importance of animal reserach that is part of the basic research that is needed to find a cure for unmet medical needs, like most of the more than 7.000 rare diseases in the world.

As a result of this Facebook message, Caterina got more than 30 death threats and 500 cruel insults. It must be absolutely clear, that we – as rare disease community – are not only grateful to Caterina for her message but that we also fully support her in the follow up of the things that will most probably happen to her in the future.

It should also be noted, that Caterina is not the first patient who is hit by actions and publicity from individual persons and groups who say they defend the rights of animals. But at the same time, some of their actions are completely illegally directed to researchers and patients and the scientific community as a whole. It’s therefore also more than encouraging that Catharina received more than 15.000 likes on Facebook, shortly after the death threats came.

From the patient community, we should strongly condemn the fact that certain activist groups or individuals use violent, non democratic methods in pursuit of political objectives putting other peoples life at threat.

We also have to stress that individual patients cannot be held responsible for laws who ask the testing of all kinds of products on animals, among them medicines and vaccines for humans as well as animals. Also national, EU and international institutions fund research to solve unmet medical needs and for that research, among them animal research is sometimes necessary. This research is a societal responsibility and if anything we should blame other stakeholders for not assuming the responsibility to communicate about the reasons behind, thus making patients the easy targets of other peoples disapproval.

Caterina’s Facebook message

Caterina's Facebook message

When veterinary student Caterina posted an update on a Facebook page supporting the use of animals in medical research, she was trying to say how lucky she felt to be alive. The Padua native suffers from four rare genetic pulmonary diseases that require her to use breathing tubes and experimental medication to thin the mucus in her lungs in order to breathe. Her extreme illness makes her quickly immune to treatments, and, as a result, she has been in a number of medical trials as doctors search for ways to help her live longer. At 18, her doctors told her she couldn’t be cured, but this year, she had survived another birthday and simply wanted to say thanks. “I am 25 thanks to genuine research that includes experiments on animals. Without research, I would have been dead at nine. You have gifted me a future.”

Catarina’s comments, triggered a flurry of hate comments from animal-rights extremists. “You could die tomorrow, I wouldn’t sacrifice my goldfish for you,” a poster named Giovanna wrote on the Facebook page. Another wrote, “If you had died as a child, no one would have given a damn.”

Andrew Blake
The news around Catarina, reminded me of Andrew Blake, who died in 2002 aged 39. He was the founder and director of Seriously Ill for Medical Research (SIMR), a campaigning group that supports the humane use of animals in medical research.

Confined to a wheelchair from the age of 17 with an incurable – and untreatable – neurological disease, Blake started SIMR in 1991 in response to a terrorist attack by animal rights extremists. In June 1990 a bomb was placed beneath the car of Dr (now Professor) Max Headley, a physiologist at Bristol University who was working on pain and pain relief; Headley was unhurt in the explosion, but a 13-month-old baby boy was injured. Andrew Blake felt intuitively that the bomb was also directed to him.

Appalled by this incident, and discovering, to his astonishment, that the seriously ill had no formal voice in the debate about vivisection, Blake founded SIMR; at the time he wrote to Dr John Bleby, spokesman for a pro-research group of scientists: “Being disabled and on the front line of potential research benefits makes me realise the debt of gratitude I owe people like you.” Blake’s decision to take up such a high-profile role was not, however, universally welcomed. He became the target of (mostly anonymous) hate mail from self-styled animal lovers.

For Blake, the case for animal research was clear: ‘The use of animals has improved the lives of humans so much. It’s as simple as that.’ He pointed out that ‘insulin was first isolated from the pancreas of dogs by Frederick Banting and Charles Best at the University of Toronto in 1921’, and is now used to treat millions of diabetics across the world. And how dialysis machinery, used to remove toxic waste from people suffering from kidney disease, was a ‘direct result of work on rabbits and dogs’.

And then there is ‘experimental autoimmune encephalomyelitis’, a laboratory-induced disease given to rats, mice and guinea pigs, which allows researchers to develop ‘life-transforming treatments for multiple sclerosis’. Or the polio vaccination, developed using animals in the 1950s and tested on monkeys to make sure it was safe, which has saved thousands of children’s lives. ‘There are about a million people alive today who would have caught polio if they had not been vaccinated’, said Blake.

Andrew Blake was supported in his fight by Vicky Cowell from the UK and her daughter Laura who had Cystic Fibrosis. Laura died in 2011 at the age of 25. Her mother had then already transformed the Seriously Ill for Medical Research (SIMR) organisation into Speaking of Research ( where new, fresh and energetic people like Tom Holder entered.

Other incidents in Italy

Italy is already for some time a target country for European animal activists. In the summer of 2012 they forced the closure of an animal breeding facility. And in April of this year, they destroyed an animal lab at the University of Milan. The Italian scientific community is lacking pro-research organisations like they have in the United Kingdom with Understanding Animal Research and Speaking of Research.

Positive action is needed now

Maybe it is a good idea if some of the money, that has been collected for the Italian Telethon Action 2013 will be devoted to public information on animal research in honour of the Facebook message of Catarina Simonsen. For content of this publication, they can certainly count on the assistance of similar groups in Europe, like Understanding Animal Research in the UK, GIRCOR in France, the Basel Declaration in Switzerland and the SID in the Netherlands. Positive action is needed now in order to counterbalance these death threats.

This blog is written by dr. Cees Smit, a patient with severe hemophilia and policy advisor of EGAN ( He received an honorary doctorate from the College of Deans from the University of Amsterdam in 2003 for his work on hemophilia, biotechnology and patient participation

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Update from CORD 2013 Fall conference

I recently had the privilege to represent EURORDIS at the Canadian Organization for Rare Disorders (CORD) 2013 Fall Conference, the equivalent to our own annual EURORDIS Membership Meeting.

I attended this meeting at the time when CORD is driving forward their advocacy efforts for a Canadian (Federal) regulatory framework on orphan medicines. Canada is close to having a Canadian regulatory framework for orphan medicines. The legislative text is ready but it is not yet known when Health Canada will adopt it.

The CORD Fall Conference was also the first opportunity to discuss a Canadian plan for rare diseases. To date, CORD has focused their advocacy efforts primarily on orphan medicines. As Canada does not have a significant pharma or biotech industry, the primary issue is access to orphan medicines, (rather than development of treatments). Thus, emphasis has been on accessing treatments and our Canadian friends are now beginning the journey to develop, adopt and implement a rare disease plan, using the European approach as their model. The EU Council Recommendation, the EURORDIS-EUROPLAN methodology, the EUCERD Recommendations, and specific EU country national plans are the triggers for new developments in Canada. In this dynamic, EURORDIS is providing the strategic approach, the blueprint for content, and feedback from real-life experiences from different Member States.

EURORDIS has long supported the efforts of CORD to develop its national alliance by empowering Canadian RD patient groups to join forces for advocacy purposes. Canada has some strong RD patient groups and they are starting to come together to speak with one united rare disease voice.

Providing advice and support to promote rare disease and orphan medicine policies in Canada, interacting with CORD via our presence in the COMP, IRDiRC, the ECRD and other initiatives, reflect the commitment to work together on behalf of people living with a rare disease that was forged through the EURORDIS-CORD Partnership Memorandum of Understanding signed in January 2013.

About the CORD 2013 Fall Conference

About 100 participants attended the two-day CORD Fall Conference on 29-30 September and speakers included national competent authorities, researchers, company executives and patient advocates. Amongst the topics covered were regulatory policies in place for orphan medicines and other rare disease treatments (including priority review for fast tracking new products; special access for medicines not yet authorised; the Health Canada Clinical Trials database; and more). Other speakers presented an overview of gene therapy; newborn screening (in Canada each province decides which conditions will be screened); social media; the experience of rare diseases in Canada for patients, clinicians and researchers. Small group sessions were held on key topics: Regulatory & Access environment for Therapies; Research on Rare Diseases; Centres of Expertise and Reference Networks; Access to Health Care and support Services; and Empowerment of Patient Organisations.

I was asked to give a key-note address and invite you to take a look at it here (get link).

Interestingly, some ongoing innovative policy initiatives in the EU to improve access to medicines, such as the Mechanism of Coordinated Access to Orphan Medicinal Products (MoCA) were inspired by the experience of Canada in establishing a mechanism for pan-Canadian negotiation between volunteering provinces on the price and volume of vaccines in order to optimise their negotiation capacities.



Data Protection Lunch Debate: 26 September 2013

Just before the controversial legislation proposed for protecting personal data in the European Union (the General Data Protection Regulation) went to vote in the European Parliament LIBE Committee (Civil Liberties, Justice and Home Affairs) in October 2013, stakeholders gathered at the European Parliament for a Lunch Debate hosted by MEP Marielle Gallo and organised by EURORDIS. The Draft Report issued by MEP Jan Philipp Albrecht (Group of the Greens/European Free Alliance, Germany) on 16 January 2013 has stirred controversy and led to fundamental disagreements that are delaying the process of adopting the new legislation.

The Debate allowed participants to take stock of the current situation and review progress made, with particular emphasis on the Articles of the lengthy Regulation relevant to health, medical and scientific data.

In her welcome address, MEP Marielle Gallo (European People’s Party, France) observed that when it comes to data protection, the media are focused on Internet data, virtually ignoring the horizontal effect the new Regulation could have on scientific and medical research.

MEP Baroness Sarah Ludford (Alliance of Liberals and Democrats for Europe Party, UK), Shadow Rapporteur for the draft Data Protection Regulation, gave a summary of the work-in-progress, particularly Articles 7, 81 and 83, which are specific to health and medical data. Baroness Ludford evoked a “risk-based approach” favourable for health and medical research, and confirmed that the concept of “one-time consent” has been introduced, though a precise definition has not yet been formulated. There is also the concept of “Exceptions to consent” that could provide exemptions for health and medical research purposes. The right balance must be made in order to respect privacy and data sensitivity while allowing much-needed research to flourish in order to better understand and treat rare diseases. Baroness Ludford reminded the audience to compare the current legislation to where it was when it was first drafted. Progress has been made.

Solicitor Alexander Denoon, of the firm Lawford Davies Denoon, asserted that the proposed Regulation is already damaging to the European research environment. Projects are being abandoned or driven to more favourable jurisdictions (such as Australia, Canada, Japan or the USA) due to fears that stringent legislation will hamper health and medical research – including crucial post-marketing authorisation studies for medicines.

In addition to consent, the concept of pseudonymised data is critical. Alexander Denoon emphasised that Article 83 should not be limited to pseudonymised data. It must be pointed out that pseudonymised data did not even appear in the original proposal. Other concerns involve proposed stipulation that Member State law could be applicable to certain exceptions involving consent. However, by definition, a Regulation is uniformly applicable within all the Member States (MS) and therefore is considered a stronger and more harmonious legislation than a Directive. To relegate certain decision-making back to the MS level undercuts the strength and benefits of the Regulation.


John Dart, EURORDIS Deputy General Secretary and Chief Operating Officer of DEBRA International, presented the perspective of the patient, taking the example of epidermolysis bullosa, a group of heritable cutaneous disorders, characterised by painful blistering, erosions, and chronic ulcers of the skin and mucous membranes. Mr. Dart urged the audience to avoid undue delays in diagnostics, research and treatment development.

The Question and Answer session brought specific observations and concerns to the fore. Amongst topics was the transfer of data. Concern was expressed over whether protection would follow data transferred to countries outside of the EU jurisdiction.

The take-home message, delivered by academic lawyer David Townend (Maastricht University and a EPIRARE project Work Package leader), emphasised the need to avoid hampering medical research and the establishment and maintenance of rare disease registries. He questioned whether “consent” was an appropriate and adequate safeguard and wrapped up with the warning that we do not wish to look back in ten years and see that the proposed data protection legislation has deterred medical and scientific progress.

Given the potentially detrimental impact of the proposed Regulation on health and medical research, rare disease patient representatives are suggesting that a viable alternative could be to have a separate legislation specific to data protection in the areas of health and medical research. A precedent for this has already been set. Directive 2006/123/EC (the so-called “Bolkestein Directive”) on general services in the internal market removed health and medical services from the general legislation, recognising that health services differ from other general services, and eventually leading to a specific piece of legislation for healthcare services. Perhaps legislation specific to health and medical data needs to take a similar path.

On 21 October 2013, the LIBE committee overwhelmingly voted in favour of the new data protection regulation, paving the way for the rapporteur Jan Philipp Albrecht to begin negotiations with the Council and the Commission to try to reach a common agreement on the Data Protection package before the European elections in May 2014. The amendments agreed to by the LIBE Committee need to be scrutinised ahead of the vote in plenary scheduled for December 2013 as at this writing it is still not clear what impact the new legislation will have on health and medical research.

Continued reimbursement of enzyme therapies for Fabry disease and Pompe disease in the Netherlands

The recent decision of the minister of health, welfare and sports (VWS) to continue reimbursement of enzyme therapies for Fabry disease and Pompe disease in the Netherlands is very good news for patients and doctors. It is a relief that a long period of uncertainty has ended.

In brief: In July last year a fierce discussion was unleashed after publication of a draft report by the Dutch Healthcare Insurance Council (College voor Zorgverzekeringen (CVZ)) concerning reimbursement of enzyme therapy for Pompe and Fabry disease, both rare metabolic diseases. The CVZ stated in the draft report that the cost-effectiveness analyses showed an unfavourable outcome and that reimbursement of these medicines was no longer justified. Although this was a draft advice addressed to the Minister of Health, Edith Schippers, it caused a wave of public protests. Patient organisations, healthcare professionals, politicians and other parties argued that patients would suffer and would unjustifiably have to stop their treatment.

Now, more than a year later, after careful considerations and discussions with all stakeholders, the Health Minister has decided that reimbursement should be continued. In her letter, Ms Schippers indicated that she has negotiated with the pharmaceutical companies involved to reach a cost reduction agreement. She also acknowledged the expertise of the two centres in the Netherlands, the Erasmus MC, Rotterdam, for Pompe and the AMC, Amsterdam, for Fabry, allowing them to continue their research.

What remains are the broader issues about costs of orphan drugs: it is very likely that as a result of increasing personalised medicine many more orphan drugs will become authorised in the near future. So far, no system in the EU has been developed to negotiate, at an early stage, pricing for orphan drugs. In addition, there are concerns about the evaluation of effectiveness, specifically after marketing authorisation. For Fabry disease, the launch of two products at the same time, leading to fragmentation of data in registries from the pharmaceutical companies, has greatly contributed to the slow process of understanding the effectiveness in the real world situation. In Fabry disease, after more than 10 years of authorisation, it is still unclear which patients benefit from enzyme therapy and which patients don’t. Large, systematic studies in sub-groups of patients are still lacking. Many factors have contributed to this situation, including the difficulties to monitor effectiveness, the variability in disease including diagnostic challenges, the European Medicines Agency asking companies to set up drug registries, the lack of transparency concerning the evaluation reports, the lack of drive from healthcare professionals to set up independent research, and so on. Awareness of these problems has gradually grown and it would be unjust to blame just one of the players. However, now that we know that these problems exist, they should not be neglected. I am convinced that international discussions are urgently needed to address both orphan drug pricing and effective, fast and transparent evaluation of orphan drugs.


Carla Hollak



Positive Dutch decision on Pompe and Fabry

On Thursday October 3, 2013, the Dutch Minister of Health, Mrs. Edith Schippers, announced that the treatment of patients with the disease of Pompe as well as Fabry’s disease can be continued, at least till 2017 for Pompe and till 2016 for Fabry. With this decision, a long period of waiting for these patient groups came to an end.

In the summer of 2012 a large societal debate took place after a negative advice from the Dutch Health Care Insurance Board (CvZ) not to reimburse the treatment of these patients anymore (except for the juvenile variant of Pompe’s disease) because of their unacceptable cost-effectiveness. In a meeting of the appraisal committee (ACP) of the same CvZ, this decision was upheld and the Minister of Health was advised to go on with the treatment. Early 2013 the Minister responded with the answer that she wanted to continue treatment in 2013, but that she would start negotiations with the companies (Genzyme and Shire) that produced the products (biologicals) for the two diseases on the price of their products.

Price arrangements and future treatment evaluations

These price arrangements have now been made with the two companies and will not be made public. A similar procedure of price negotiations is performed in as well the United Kingdom as well as the Netherlands when governments fear that price arrangements are necessary because of too high prices or too unfavourable cost-effectiveness analyses. The formulated periods till 2016 (for Fabry) and 2017 (Pompe) are chosen, because the Dutch government wants more treatment evaluations of these products to see how patients will respond on these products in the long run.

The letter from the Dutch Minister of Health is carefully worded and she acknowledges the expertise already present in the two reference centers for these disease, the Erasmus MC in Rotterdam for Pompe’s disease and the AMC in Amsterdam for Fabry’s disease. She also is grateful in her letter to the respective patient groups for their patience in waiting on this decision. Both patient groups – as well as the physicians – have responded positively on the letter from the Minister.

Reference is made also to the National Plan for Rare Diseases that will be made public later this month in the Netherlands, followed by a two-day conference (organized by, as part of the total European Plan for Rare Diseases. Also other important initiatives are mentioned, like E-Rare, Orphanet, special databases developed for rare diseases, etcetera.

During the FIGON Dutch Medicine Days on October 1 and 2 in Ede, The Netherlands there was also a ‘look back’ discussion on the Pompe and Fabry discussion that took place in the Netherlands in the last two years.

Untransparant price negotiations

In my own presentation for this debate, I discussed the price negotiations. Personally, I’m not that happy with negotiations that are not transparent for the public. It’s quite a strange situation that we had a large public debate on this issue, which now ends with a untransparant message about the price negotiations. From a competition point of view this can be understood, but it will lead also to the public perception that the prices were indeed too high from the side of the companies.

In my opinion, the price of new drugs coming on the market and especially those for rare diseases, is also heavily influenced by the ongoing public and governmental requirements for clinical research, authorization and reimbursement.

Ongoing administrative requirements

When we look to the European situation in the past 10 – 15 years, we have seen a new European Clinical Trial Directive around the year 2000, a revised European Clinical Trial Regulation being discussed now, a new European Animal Research Directive being implemented now, new transparency requirements for clinical trial data from EMA being discussed now as well as the upcoming of the HTA-sector which requirements on cost-effective analysis in the final reimbursement phases of drugs. Especially, where Europe now has 27 Member States these procedures are not harmonized over Europe in a way that we have one dossier for all Member States. So, a drug manufacturer or an academic pan-European study project has to deal with different situations in the different Member States and in different languages as well.

All the work that is needed to fulfill these administrative requirements is incorporated in the price of new drugs or treatments coming on the market. For commercial products it is possible to incorporate these costs in the price, but for academic research or spin-off biotech companies from universities it is much more difficult to earn this money back.

So, in my opinion there is an urgent need for the community of patient groups at large, and for the rare disease community in particular to start the debate about the large administrative burden that is reflected in the price of orphan drugs.

Especially in a period of economic crisis, it cannot be true that the cost of regulatory requirements of new drugs is rising, while access to these drugs is becoming more and more difficult because of its often high price.

This Cath-22 situation has to be stopped, Act Up now!

Cees Smit, October 7, 2013

Rare Diseases: Challenges and Opportunities for Social Entrepreneurs

Social entrepreneurship is a fast growing sector that is starting to make significant inroads into rare diseases.

From the creation of the National Organization for Rare Disorders (NORD) in the USA, to the launch of the biopharma company Prosensa in the Netherlands, the BLACKSWAN Foundation in Switzerland, PatientCrossroads in the USA, Protein Technologies and the Myrovlytis Trust in the UK, and the Genetic Alliances in the USA and the UK, social entrepreneurs have been leading the drive to find treatments for the myriad rare diseases affecting hundreds of millions of people worldwide.

So what is a social entrepreneur? According to Ashoka, the global fellowship of social entrepreneurs, social entrepreneurs are men and women with system changing solutions for the world’s most urgent social problems.

Yet very little has been written about how social entrepreneurs are tackling rare diseases, which is why a group of us decided to put together a book on the topic.

Called ‘Rare Diseases: Challenges and Opportunities for Social Entrepreneurs’, the book is a collection of 13 chapters by leading experts in the sector.

It examines the topic from the business angle, considering the drug development process and providing case studies of successful orphan drug companies. It also looks at rare diseases from the perspective of the patient, analysing the growing rare disease patient movement, with an example of a successful patient group that uses social enterprise techniques, and chapters on key requirements for helping patients with rare diseases through registries and centres of excellence.

There is no unique model of social enterprise in the rare disease space. Some of us, such as the AKU Society, have gone for the single rare disease, patient group, charitable model. Others, such as NORD or the Genetic Alliances, have gone for the umbrella model, representing a broader segment of society and focusing on changing the overarching government policies that affect rare disease patients. Yet others, such as Prosensa and Protein Technologies, have adopted a more commer­cial approach as businesses focusing on drug development.

This diversity is what makes up the strength of the rare disease sector, because all share the same vision: a better life for rare disease patients.

Indeed, these social entrepreneurs generally fall into two categories: patients, parents and relatives frustrated by the lack of interest in rare diseases and wanting to make a difference; and researchers, scientists and clinicians wanting to help patients that nobody else is caring for, yet also fascinated scientifically by what these rare diseases teach us about the human body.When this frustration or fascination is turned into effective action, a social entrepreneur is born.

We put together the book as a toolkit for social and business entrepreneurs who are interested in the world or rare diseases. As we searched the internet for any similar books, we found that books on rare diseases are as rare as the diseases themselves. Until now, apart from the academic medical literature on specific rare diseases, very few books have been published about the wider aspects of rare diseases.

Please note that all royalties from the book’s sales will be donated to rare disease patient groups. So do buy it here:

-       As a paperback:

-       As an ebook for Kindle:

On the occasion of the DIA President's Award for Outstanding Achievement in World Health

Full acceptance speech of Yann Le Cam (Chief Executive Officer, EURORDIS) on the occasion of the presentation of the nonprofit Drug Information Association (DIA) President’s Award for Outstanding Achievement in World Health


Through you, Dr Su, President of DIA. I express our gratitude to each member of the DIA’s Board of Directors as well as to all members of the DIA worldwide.

It means a lot that the Drug Information Association (DIA) grants its most prestigious Award to a non-governmental organisation, a patient organisation, even more so in Europe and foremost for Rare Diseases.

It is a great honour for the European Organisation for Rare Diseases (EURORDIS / Rare Diseases Europe) and I am privileged to accept it on behalf of our 561 members in 51 countries as well as of our Volunteers and Staff.

Building on the USA’s pioneering action on Orphan Drugs, EURORDIS has forged the concept of Rare Diseases. This has allowed us to break the isolation of patients affected by severe life threatening diseases with limited hope of social recognition, care and cure, and to gather all patients affected by one of the over 6000 rare diseases into a critical mass of 30 million patients in Europe alone. These patients face the same issues of access to information, diagnostics appropriate care as well as the lack of knowledge of their diseases, the lack of research and lack of drug development. This strategy of joining forces has enabled us to turn Rare Diseases into a Public Health Priority, first in Europe, and thereafter Internationally.

Over the 15 years since it was created, EURORDIS has contributed to the adoption of several EU Regulations on Medicinal Products: the EU Regulation on Orphan Medicinal Products in 1999, EU Regulation on Paediatric Drugs in 2006, and the EU Regulation on Advanced Therapy Medicinal Products in 2007, as well as policy frameworks recognising Rare Diseases as a public priority: the EU Research Framework, the EU Health Programme, the EU Directive on Cross-Border Healthcare, the Commission Communication on Rare Diseases and the Council Recommendation on an Action in the field of Rare Diseases. Currently we are battling on the EU Regulation on Data Protection, the EU Regulation on Clinical Trials and the EU Directive on Transparency.

EURORDIS is a Civil Society organisation which stems from the HIV/AIDS activism, the knowledge advancement in genomics, the emergence of the World wide Web, the construction of the European Union, and the globalisation of our economy and social challenges.

What is probably unique about EURORDIS is that:

-      We have created a robust pan-European movement of patient organisations and patient advocates which is multi-cultural and multilingual;

-      We are professionals and enthusiasts in our strategy and ways of operation with the optimism to go beyond the problems affecting our lives;

-      We don’t only advocate in public policy and build the capacities of a growing number of patient advocates, we also take responsibility in the implementation of the regulations and policies we have advocated through our active participation in the Scientific Committees and procedural processes of the European Medicines Agency and in different EU Expert Groups on Rare Diseases, Public Health, Research, and Medicinal Policy.

-      We work through partnership with all stakeholders and we believe in value creation for all based on the principle of shared value.

EURORDIS has taken the leadership in turning Rare Diseases into an international movement, aiming to make it an International Public Health priority. We are doing this through:

-      A Strategic Partnership with the US National Organization for Rare Diseases (NORD) and in close partnership with the Canadian Organization for Rare Diseases (CORD), the Russian Patients Union and the Japanese Patients Association;

-      The Rare Disease Day, which was initiated in 2008 by EURORDIS and coordinated every year in partnership with our National Alliances for Rare Diseases in Europe and around the world, on the last day of February. This year, on 28th February 2013, over 70 countries from all continents participated ;

-      A series of conferences at the national level, the continent level with the European Conference on Rare Diseases & Orphan Products and the US Conference on Rare Diseases & Orphan Products, and at the international level with the International Conferences on Rare Diseases & Orphan Drugs;

-      The creation this year of an international movement called Rare Diseases International which is gathering National Alliances for Rare Diseases as well as International Federations for Rare Diseases – disease specific or for groups of diseases, in order to speak with one global voice on behalf of over a hundred million patients worldwide and to work with the UN system.

Over the course of this journey, DIA has been a companion and a partner.

I had the privilege to be among the first patient representatives to speak at the DIA EuroMeetings in the 1990s and the first to be a member of the DIA EuroMeeting Programme Committee, thereafter a Theme Leader and later a member of the DIA Advisory Council Europe.

All my efforts, with the support of EURORDIS colleagues Ariane Weinman and Maria Mavris, and DIA colleagues as well as the essential support of Dr Yves Juillet and other leaders in the DIA, were focused on increasing the participation of patient representatives in DIA activities, as a full stakeholder, a full actor of the drug development and regulatory processes, a partner in the value creation chain.

Over the years, we have been successful in increasing the number of patient advocates as Speakers in Sessions (12 to 15 every year), to promote them as Session Chairs, Theme Leaders, Programme Committee members. In addition, we initiated with the DIA, the DIA Patient Fellowship Programme which enables 40 patient representatives, based on an Expression of Interest and Selection, to be supported to attend the DIA EuroMeeting with registration fee waivers for all and even travel & accommodation covered for 20 of them. This programme is articulated with briefings, supporting networking activities, a well placed booth stand and an evaluation after each meeting. This programme has now been expanded to the USA at the Annual DIA Meeting. EURORDIS also has a partnership with DIA to organise the DIA Forum on Health Technology Assessment as well as on Orphan Drugs.

The DIA Philanthropy Programme has played a key role in supporting the EURORDIS Summer School for rare disease patient advocates in drug development, clinical trials and EU regulatory affairs.

More recently, EURORDIS has established a partnership with DIA which co-organised our European Conference on Rare Diseases & Orphan Products, starting with ECRD 2012 Brussels and continuing with ECRD 2014 Berlin, taking place on 8-10 May 2014. EURORDIS has also initiated a similar partnership between NORD and DIA for the US Conference on Rare Diseases & Orphan Products. This triangular partnership between EURORDIS, NORD and DIA is of mutual benefit and will offer a base for further expansion in other parts on the world.

I know what I have initiated, the strategies I have introduced and the doors I have opened but the achievements recognised with this DIA President’s Award for Outstanding Achievement in World Health belong to everyone who contributed with great team spirit inspired by common values and commitment!