European Workshop: "Gaining Access to Rare Disease Research Resources" in Paris on 4 & 5 May, 2007

This workshop is a part of the Capoira project (The Capacity Building for Patient Organisations in Research Activities).

The aim of the workshop was to foster the participation of patient organisations in research activities by increasing their knowledge, skills and capacities in the areas of EU-funded health research projects.

Participants were delegates of European patient organisations in rare diseases.

Report:

Rare disease patients are among the most vulnerable populations. Rare disease patients are attracting less research attention because of their small population size and the current lack of expertise and knowledge base.

Patient organisations could play an important role here because they have the expertise on their disease. They know better than anybody what it is to live with their disease, 24 hours/day, 365 days/year.

Generally it was stated that patient organisations could play a role in improving healthcare for the community by:

• Promotion and funding of research (finding funds for the research in MM by several means: organisations of fundraising events, finding private funds or by applying for funding at the European Commission: see next page)
• Supporting the development of therapies and drugs (by participating in negotiations in the regulatory process of drugs)
• Providing ready access information about our disease to the media
• Awareness raising and knowledge sharing on the disease (via website, organisation of workshops, congresses in which the medical community can be brought together and knowledge can be shared…)
• Identifying the needs of patients and communicating them to the medical and research community
• Advocating for patients at local, national and international levels
• Making clinical studies known to our patient community

Patient organisations can participate in research activities by increasing the knowledge, skills and capacities in 2 areas:

1.   Clinical trials: a patient organisation can play an important role in making the existence of clinical trials known to the patients e.g. by publishing the information on the organisations’ website. Patient organisations can also contribute by disseminating research results to patients and families, health professionals and even the scientific community.                                                                                                

2.   EU-funded rare disease policy and projects. A presentation was given on “Rare diseases in the 7th Research Framework Programme”. Framework Programmes (FP) for EU research are the European Union’s main instrument for funding research in Europe. They consist of a budget, allocated to activities and projects over a number of years. The 7th Framework Programme has just been set up and will last until the year 2013. Previous Research Framework Programmes, organised by the European Commission, have supported rare diseases research in the past. An example of a success story is a project of FP5: the set up of the EuroBioBank, a European network of DNA, cell and tissue banks on rare diseases. Also FP6 funded many research projects for rare diseases. Participation in Framework Programmes, organised by the European Commission, gives access to funding for a research project and they are open to a wide range of organisations and individuals, from research institutes to small and medium sized enterprises, researchers and disease specific patient groups. Of course a solid and specific research project has to be presented when applying for a funding through the FP7 and this is the specialisation of the medical and research community in our disease. Once this project has been outlined, the patient organisation can apply for funding through the FP7. That shows again the importance of the close collaboration we need to have with our medical community. We, as patient organisation, have to communicate the needs of our patients to the medical world. We have to bring our disease constantly in the spotlight and draw without stopping the attention of the scientists to our disease and the need for research. In collaboration with them, a research project could be set up and funding can be requested at the European Commission by means of the FP7.

At the workshop, some patient organisations testified about their experience and how they obtained the necessary funds for research in their specific disease (among them “The European Prader Willi syndrome research project” and “The Jennifer Trust” for research on Spinal Muscular Atrophy). Thanks to the funding they obtained from the EC, scientists could do some break-through research on their disease, which was a tremendous step forward in the treatment of these serious illnesses.

Also scientists and researches witnessed and all of them, without exception, emphasised the importance of setting up a “database”. Before even thinking of setting up a research project, this is the first step to do. It is an unavoidable step for the development of new projects. According to them, patient organisations have a major role here in organising this database.

What is meant by this database?

This database would be a registry of patients from across Europe, living with - in our case - multiple myeloma. As we are confronted with a rare disease, this database could help in help in:

• Gathering a sufficient number of cases to be studies: this databank should be the reliable and lawful collection, management and analysis of data across many countries thereby having sufficient numbers of people with MM.
• Sharing and transferring data between different countries and centres (pan-European). The comparisons between countries would allow studying the influence the different health care (treatments) and social care policies and their impact on the lives of people living with MM. It could give scientists a better knowledge on the possible causes of our disease.
• Stimulating an international collaboration, enabling the medical expertise to focus on our disease and to develop the best practice across the EU.
• Having a common set of data (clinical, research…)

All the information in the database should be followed up at regular intervals (e.g. every 2 year)

What should be the structure and content of such a database? (this are just some ideas, many more are to be suggested!)

• The history of the patient (age, gender, past diseases, general health information, environmental and professional history,…)
• Demographic, diagnostic and developmental information
• Every-day behaviours (smoking,…)
• Info on the development and progress of the disease
• Info on the treatment the patient had and the outcome of the treatment
• Info on the medical centre where the patient is treated
• …

Ideas should now be put together to see how such a databank could be organised. One possibility is that local national patient organisations set up a questionnaire among their members and that in a later phase, the information is gathered in a European registry.

This may seem a very ambitious project. Also, there are a lot of ethical questions to take into account (privacy of the patient, who will have access to this information, etc…).  During the meeting, Eurordis gathered the different viewpoints of the patient organisations and will try to come up with some guidelines, taking into account those ethical and practical problems.                                            
At the workshop 2 important upcoming events were announced:

• The first “Rare Disease Day”.

The initiative comes from Eurordis, but they count on the collaboration of the rare disease patient organisations. Eurordis would be the coordinator and the patient organisations have the role of local actors.

The date chosen for this yearly event is the last day of February: February 29th (every 4 years when it is a bissextile year “ A unique day for unique people”) or February 28th (during the other years).

The goal of this European Rare Disease Day is to increase the awareness for rare diseases. To draw the attention of the media, the general public, the European and National authorities and policy makers to the situation of people living with rare diseases.

This day could be chosen for the organisation of special (fund-raising) events around our disease, for communication with the press, for information days…

The first Rare Disease Day will be on February 29th,2008 !

• On September 14th, 2007, the “European Conference on Research policy on rare diseases” will take place in Brussels. Those who are interested can already block this date in their agenda.

We would like to thank Eurordis for the organisation of this useful and very interesting workshop.

Very remarkable was the solidarity felt among the different patient organisations dealing with rare diseases. We all agreed that this workshop narrowed the gap between between civil society and the scientific community. The workshop helped patients and their representatives to understand the concepts, vocabulary, policies and instruments of health research activities at EU-level. It might be a stepping-stone for patients and patient groups from all over Europe to start contributing concretely to research policy development in Europe.