Anyone with a rare disease should benefit from cutting-edge research – Dr Daria Julkowska

You are the coordinator of E-Rare-3, an EU-funded project identifying rare disease research needs. What do you think are the economic barriers to developing new treatments and diagnostics for rare diseases?

‘The fact that there are very few patients means there is relatively less interest from pharmaceutical companies. Developing therapies takes years of work and requires a lot of investment that might not be covered by the use of the drug by a few patients. On top of that, even if a drug passed all the clinical tests, there is no system for ensuring that it will be available in every country because each has its own national system for reimbursement.

‘It is also challenging to gather enough patients to run clinical trials and, in the case of genetic diseases which are often diagnosed in childhood, there is the added challenge of performing trials with children.’

What is being done to improve this?

‘We have seen progress but we are still far from finding a solution to the problem of national regulations and pricing systems. However, in Europe, we’ve seen important advancement thanks to the actions of patient organisations like EURORDIS - Rare Diseases Europe. Patient groups have helped to mobilise regulators, the European Commission and Member States to look at improving research, diagnosis and treatment of rare diseases.

‘The International Rare Diseases Research Consortium has been instrumental in connecting researchers in this field. A lot has changed over the past 20 years but there is still a long way to go.’

How can the development of new drugs and diagnostics be accelerated?

‘One major advance is the launch of the 24 European Reference Networks (ERNs) this year. These were created through collaboration between the European Commission and EU Member States to improve the speed and accuracy of diagnosis, improve and harmonise the management of patients in the EU, and support health professionals in sharing information and data. They are designed primarily to improve care but also have significant potential in research.

‘I see a major opportunity in ERN as healthcare specialist centres (are) creating and expanding, for example, patient registries for rare diseases. This would be a major catalyst for drug development by helping experts to access information about patients and the natural history of disease. It would also be an enormous information resource for companies, helping them to establish collaborations for designing new clinical trials to improve their understanding of the safety and efficacy of the new drugs.’

How do you ensure that patients get equal access to innovative therapies?

‘This is the most complex challenge. There will be no solution unless we get countries to work together on issues that are a national competence – such as the delivery of health services. Having the ERNs is an important start: patients in one country will have access to specialists in another one, without having to travel unless strictly necessary. Sooner or later this will lead to questions about whether those patients have access to the treatments available in one European country but not reimbursed in another. For us, equal access should be a priority. This has also been advocated by EURORDIS and its members in their recent reflection paper.’ 

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‘There will be no solution unless we get countries to work together on issues that are a national competence.’ 

E-Rare-3 is coordinated by E-Rare, which was launched 11 years ago to connect organisations that fund rare diseases research. What contribution has it made so far?

‘E-Rare has established an ecosystem for research funding in European countries and is now extending to Canada, Japan and the United States. This includes countries such as France, Germany and Italy where systems are very well developed, as well as those with much less activity in the rare diseases field.

‘The second major achievement was to create a community of rare diseases researchers. A decade ago, we all knew collaboration was essential if you want significant results but the network was missing. We have created sustainable collaborations among this community.

‘While it is too soon to point to a specific drug that is now on the market, we are pleased that almost EUR 100 million has been invested in rare disease research and this is delivering real results – new diagnostic guidelines and treatment protocols have been products, and new therapeutic approaches are going into clinical trials.’

How do you choose which rare disease research to fund at E-Rare?

‘There are very few exclusions – only when there is already a specific funding stream for certain diseases. For example, rare cancers are covered by other funds so we exclude those. Our community of rare disease experts evaluates proposals very rigorously and we keep the patient voice at the table at all times.’

What is the role of patient groups in E-Rare?

‘We have collaborated with EURORDIS since its foundation and, since 2014, they have been a full partner in the E-Rare consortium. We very strongly encourage researchers to cooperate with patient organisations where possible and welcome co-financing from patient organisations for research projects. We also have a patient observer on our evaluation board.’

What’s next for E-Rare?

‘Our major goal is to have (support from the) European Joint Programme Cofund for rare diseases. This would help to coordinate national research and innovation programmes in the field, bringing together not just funding but also huge scope for capacity-building. Our objective would be to close the gap between research and patients. We have been working on this for more than a year and, if all goes well, the European call could be launched this November and begin work in January 2019.’

What is your view of the future of rare disease research? 

‘It depends on the reaction of Member States to the ERNs – which are just beginning but have huge potential. This field is very special because researchers, health professionals and patients are very passionate, highly-motivated people. This gives me reason to hope we can make the most of the opportunities we have.’

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