1. European Fragile X Network Council of European Federations Paris, 14 & 15 October 2014 Synthesis for Berlin EFXN Berlin, November 8, 2014

2. First half day : common for CNA meeting and CEF meeting CNA is COUNCIL of NATIONAL ALLIANCES (for RARE DISEASES) Today, 32 national agencies are members of EURORDIS (29 for rare disease) Since its creation, EURORDIS has encouraged and supported the creation of National Alliances for Rare Diseases. CEF is COUNCIL of EUROPEAN FEDERATIONS (for RARE DISEASES) A European Federation is a network of national patient organization for a specific rare disease. Our network EFXN is one, so we had to be represented. The Council of European Rare Disease Federations provides a platform for the exchange of experiences and information across federations working for different diseases or group of diseases.

3. RARE CONNECT RARE CONNECT IS A SOCIAL NETWORK started in 2010 (with joined initiative of Eurordis and NORD) It provides a way to communicate between people impacted by the same rare disease, even with different languages, due to translation services. Today, 66 disease communities have their own moderated forum. The value added is that these forum are moderated, data are reliable. All sensitive data on patients are maintained and secured by Eurordis and NORD. 80 000 visitors per month today. By 2020 RareConnect aims to be a platform which: 1. Has 300,000 members from 2,000,000 unique visitors annually 2. Provides over 200 disease specific communities and thousands of discussion groups on issues of relevance to rare diseases 4. Has become a reference discussion platform internationally for rare diseases 5. Has become a useful survey platform to find out what RD patients think about specific issues

4. RARE DISEASE INTERNATIONAL An ambitious project, presented by Yann LE CAM In its first phase, RDI will be an informal network of rare disease patient organisations interested in building the global alliance representing patients & families of all nationalities across all rare diseases. It is a EURORDIS Initiative. Should be an independent - legally registered organisation within 3-5 years. Before formal organisation, EURORDIS will: Bring together global POs for the launch of RDI Organise RDI meetings, facilitate creation of & participate in the governing Council of RDI Provide resources & office support in order to manage the initial RDI Action Plan The mission of RDI can be summarized in : “To be a strong common voice on behalf of people living with rare diseases around the world”.

5. Organisation of Centers of Expertise and European Reference Networks by Therapeutics Areas The main objective is that all rare disease have a home somewhere in the world, ou in Europe for european countries. Although this approach is mainly focused for very rare diseases,more than Fragile X, some ideas can be interesting. For example if we look at slide 6 of the presentation : New emerging landscape for Rare Diseases: European Patients’ Academy on Therapeutic Innovation Connecting Big Data revolution for RD Integration of Research Infrastructure and transitional research pathway focused on RD Centres of Expertise accreditation to ‘connect up’ European Reference Networks to ‘level up’ of expertise and knowledge Today, for Fragile X, it happens that different Reference Centres or expert organisations have some exchanges in specific circumstances, like clinical trials. May be they could have more permanent common ressources.

6. European Committee for Medicinal Products A common procedure for all european countries This approach tries to associate, more than in the past, patients to the different steps of the procedure to authorize a medicine. See the annouce of EMA on 09/26/2014 : Patients to discuss benefit-risk evaluation of medicines with the CHMP Not any patients can be invited to participate, an idea of the selection criteria : Patients (or carers) with personal experience and knowledge of the particular disease/condition under evaluation will be invited to participate Assessment of any potential conflicts of interest Contact via the EMA network of eligible patient organisations, other European or national organisations or individuals who have expressed an interest to participate in the Agency’s work Need to be able to understand and communicate in English. I asked the question : Can the patient be represented by one parent or guardian when he has a mental retardation or a lack of autonomy to decide himself :The response is : yes.

7. Second day Mainly focused on Registries Long discussion animated by Dr Anil Mehta of University of Dundee It is quite impossible to summarize in a few minutes this long presentation, started with intellectual and philosophical considerations to establish the debat. Main ideas : it is very important to use numbers and figures in a rigorous analysis way, taking into account what kind of information is expected and for which usage, and to use them in a ethical way to get the consent of patients to be registered. We must be able to answer the following questions : Who owns the collected data? Who owns the analysed /processed data? (IP issue) Who has permission to do what with each type? Consent is key but is inadequate, insufficient, ill-understood The data and examples presented by Dr Mehta wre mainly extracted from his speciality : the cystic fibrosis (in french Mucoviscidose) and show big differences of age of diagnostic and age of death according to the countries, even inside Europe.

8. Last presentation and conclusion Concerning the registry activity, Dr Anil Mehta also tackled the software aspects, and gave precisions on what kind of solutions he used. A white paper on OpenApp Registry was given to all participants. The last presentation, by Anna Kole, was dedicated to new resources in registry development, presenting the state of the art of this thematic. My personal global impression First of all, I have been happy to be able to represent our nertwork, as Jörg wished. It was an opportunity to get a lot of interesting information, and to refresh my understanding of all these european or international entities, also to meet persons. As other times in this world of rare diseases, I felt a little alone to be concerned by a disease which impacts autonomy,and may cause an intellectual deficiency. Most of the other participant are in a different situation, they often are patient themselves, but they have the ability to act by themselves. They do not always perceive this difference spontaneously.