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Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases [RD-ACTION] [677024] - Joint Actions
Coordination by lead INSERM

Start month:1 - End month: 36

Task 1.1 : Organisation of the Joint-action kick-off meeting.
Leader (lead applicant): Ana Rath [Inserm]
Start date: M1 End date: M6
It implies preparing a detailed workplan containing a detailed des...
Task 1.1 : Organisation of the Joint-action kick-off meeting.
Leader (lead applicant): Ana Rath [Inserm]
Start date: M1 End date: M6
It implies preparing a detailed workplan containing a detailed description of all activities of the project, milestones and deliverables to be approved during the kick off meeting.
Task 1.2 : Monitoring of the activities and overall quality of the project
Leader (lead applicant): Ana Rath [Inserm] Contributors: WPs leaders
Start date: M1 End date: M36
The Steering committee composed of WPs leaders will monitor the progress achieved (compliance with the milestones and timetable validated during the kick-off meeting) and address the possible difficulties and opportunities arising during the project. They will also process the information coming from the evaluators, the international advisory board and from the CEGRD. Dissemination issues will also be discussed and validated by the Steering Committee.
Task 1.3: Ensure communication and information exchange amongst Joint action participants
Leader (lead applicant): Sylvie Maiella [Inserm], Contributors: WPs leaders/project managers
Start date: M1 End date: M36
An internal newsletter will be edited every two months in order to ensure a smooth communication among WPs. Where necessary in between newsletters, emails and conference calls will be organized. It aims to inform the partners on the conclusions of the Monitoring meeting. It will also ensure circulation of information, among all partners, relating to each team’s activities and outputs in order to facilitate the acquisition of comprehensive knowledge regarding the big consortium. Two annual meetings will be organised after the kick-off in Y2 and Y3, in order to allow Management Board to meet. A private space intended to allow JA partners to share documents will be created in the JA website.
Task 1.4 : Intermediary for all communication with the Chafea and the DG SANTE
Leader (Inserm): Ana Rath [Inserm]
Start date: M1 End date: M36
The project coordinator will act as the official representative towards the Chafea and DG SANTE. The project coordinator will provide them two interims and a final report, assisted by the Project Manager and the Financial Officer.

Dissemination by lead EURORDIS

Start month:1 - End month: 36

Task 2.1 : To set up and maintain the Joint Action dissemination tools
Task Leader (lead applicant): Sylvie Maiella [Inserm] Contributors: All partners
Start date: M1 End date: M36

• A website...
Task 2.1 : To set up and maintain the Joint Action dissemination tools
Task Leader (lead applicant): Sylvie Maiella [Inserm] Contributors: All partners
Start date: M1 End date: M36

• A website containing information on the action will publish information on the partners of the JA, on the JA progress from the different stakeholders and, at the end of the contract, the layman brochure of the final report.
• A leaflet promoting and explaining the JA activities will be prepared and translated in all partners languages
• The State of the Art 'Report/Resource' will be disseminated/promoted via JA tools

Task 2.2: To produce the Orphanews newsletter
Task Leader (lead applicant): Ana Rath [INSERM], Contributors: all
Start date: M1 End date: M36

Twenty electronic issues of the twice-monthly Newsletter of the Rare Diseases Community - Orphanews - will be produced per year. This will amount to a total of 60 issues during the whole duration of the JA. A section dedicated to this JA will be included in Orphanews in order to communicate timely the progresses to the 15,000 registered readers. The Editorial Board of the new version of Orphanews will be composed at least of WP2 contributors.

Task 2.3: To hold the reference European Conference on Rare Diseases and OrphanProducts in 2016
Leader: EURORDIS, Contributors: All partners
Start date: M17 End date: M17

The European Conference on Rare Diseases and Orphan Products (ECRD) which will be held in May 2016 in Edinburgh will be the 8th ECRD. The ECRD is a major dissemination tool and represents an important platform for policy promotion that covers all areas of relevance for the Rare Disease Community at large. As such, this Conference is considered as a priority event by all stakeholders active in the field of rare diseases and has been officially mentioned in the “Commission Communication on Rare Diseases: Europe’s challenges”, in the Governance and Monitoring Chapter.
The ECRD 2016 Edinburgh will involve all stakeholders relevant to the Rare Disease Community at large. The Program Committee in charge of developing the Conference’s program comprises of a representative from all main stakeholders groups, patients, national decision-makers/national authorities, European policy makers, Members of the CEGRD industry representatives, researchers, academics, learned societies and medical experts. In 2016, more than 800 participants are expected to attend the ECRD (in Berlin in 2014 there were 768 participants representing 43 countries).
The program of the Conference, including all the different sessions within the specific themes, is focused around the main structuring measures impacting on the rare diseases field that are taken and implemented at national and European levels, such as the ones deriving from the CEGRD recommendations, the Council Recommendation on rare diseases, as well as from other pieces of legislation, e.g. the Cross-Border Healthcare Directive and the various national transposition laws.

Task 2.4: To support national and European integration through national workshops
Leader: EURORDIS, Contributors:, ISS, UNEW.
Start date: M9 End date: M36

This task aims at supporting the development of the content of the national workshops to be organised by National Alliances, in close collaboration and with the support of national authorities, at least one in every Member State. The overarching goal of the national workshops and their substantial added-value is that they will ultimately facilitate the integration of rare diseases-related activities at national and European levels.
These workshops have the specific objectives:
1. To disseminate at national level the JA activities and the Recommendations discussed and adopted by the CEGRD, and previously by the EUCERD. As well as to facilitate their appropriation by different actors at national and local levels.
2. To accompany the implementation of these recommendations in the specific national context
Evaluation by lead MUW

Start month:1 - End month: 36

Task 3.1 : Evaluation of the Joint action achievements
Leader (lead applicant): Medical University of Vienna; Contributors (applicants involved): Eurordis, INSERM, UNEW
Start date: M1 End date: M36 ...
Task 3.1 : Evaluation of the Joint action achievements
Leader (lead applicant): Medical University of Vienna; Contributors (applicants involved): Eurordis, INSERM, UNEW
Start date: M1 End date: M36

Overall Joint action evaluation will be based on indicators measuring the process, output, outcome and impact. (please refer also to section 2.2)
In particular:
- European Conference on Rare Diseases (ECRD). Process indicators will include: well defined steps necessary in the overall preparation of the conference (i.e., the nomination of a program and an organising committee, meetings and conference calls of these committees, the development of a conference website and of other information tools like stakeholder-tailored flyers), the range of different themes and topics of the ECRD including accompanying satellite meetings and tutorials, as well as the coverage of the different stakeholders participating in the program committee and the conference. Output indicators will include the number of invited lectures, the number of oral presentations and posters selected from submitted abstracts, and the production of further information material like newsletters or an online conference report. Outcome indicators comprise, inter alia, the total number of participants, as well as by stakeholder groups. Impact indicators will include the degree of dissemination of the final conference report, the coverage of the conference in classical media as well as in social media. On-site participant satisfactory surveys for each session, as well as a more general online participant satisfactionory survey will provide information on the impact of the conference, and information on the general organisation of the conference and the quality of the content.
• Conference on sustainable health systems for RD. Process indicators will include: well defined steps necessary in the overall preparation of the conference, preparatory steps conducted (literature review, analyses, preparatory workshop, eventually establishement f specific working groups). Output indicators will include one analysis on epidemiological data on RD and one review on sustainable health systems carried out, policy briefs delivered. Outcome indicators comprise, inter alia, the total number of participants, as well as by stakeholder groups. Impact indicators will include the degree and quality of the dissemination of the conference conslusions and, inter alia, the workshops participants’ satisfaction (86 expected), by means of survey during and/or after the meeting
- To evaluate the testing phase of the master-file with Orpha-codes and the related guidelines, a set of common indicators for all participating countries will be developed including process indicators (like, inter alia, compatibility with and easy integration into existing health information and coding systems and applicability of the guidelines) and output indicators (like, for instance, the number of single RD entities registered using the master file, the number of more specific codings and the ratio of correct and incorrect coding entries). The workshop addressing the information about the strategies and tools to implement the Orpha codes in the European countries will be evaluated by means of a set of specifically developed indicators including outcome indicators (for instance the number of participants and the number of Member States represented), output indicators (like information materials provided in the workshop intended for the distribution within the Member States and/or a workshop report) and – if applicable – impact indicators (like decisions on the further implementation of Orpha codes in individual Member States). The assessment by indicators will be accompanied by an online user satisfactory survey for all participants.
- All workshops organized in the context of the Policy Development for RD and Integration with other relevant initiatives will be evaluated by online participant satisfactory surveys
Orphanet, the European database for rare diseases by lead INSERM

Start month:1 - End month: 36

Task 4.1 : Coordination of the Orphanet consortium
Task Leader (lead applicant): Ana Rath (INSERM) Contributors (applicants involved): All WP4 members
Start date: M1 End date: M36

26 associated p...
Task 4.1 : Coordination of the Orphanet consortium
Task Leader (lead applicant): Ana Rath (INSERM) Contributors (applicants involved): All WP4 members
Start date: M1 End date: M36

26 associated partners in this JA and 14 collaborating partners are involved in the Orphanet consortium activities. The completeness, consistency and quality of the final database largely depend on the efficacy of the coordination of these partners. The INSERM is coordinating the Orphanet consortium since 2000. The coordination of Orphanet consortium activities includes:

1. Ensure smooth communication and information exchange related to Orphanet database activity through a Supplement edited with the RD-action newsletter, and bi-monthly management board conference calls.
2. Provide day to day technical support to the partners
3. Perform the annual Orphanet user’s survey and the Orphanet annual activity report

Task 4.2 : Maintain and expand the rare diseases database
Task Leader (lead applicant): Annie OLRY (INSERM) Contributors (applicants involved): All WP4 and WP5 members
Start date: M1 End date: M36

During this task, the inventory and classification of RD annotated with genes cross-referenced with other resources will be expanded and maintained. A definition for all RD to be included in the content model of ICD11 and SNOMED CT will be produced and the professional encyclopaedia of RD will be further populated and updated.
The aim of the Orphanet nomenclature and classification is to provide the RD community, from healthcare to research, with a well-structured hierarchy specific for RD with different degrees of granularity so as to allow linking data coming from healthcare (i.e. clinical diagnosis in health records) to data coming from research (i.e. genetic entities in databases). The Orphanet nomenclature is at the centre of a rich network of relations inside the Orphanet database and its ontological expression (ORDO, for Orphanet rare diseases ontology), comprised of genes interrelated with other resources (HGNC, OMIM, UniProt, ensembl, Reactome, IUPHAR, Genatlas), epidemiological data (prevalence, incidence, age of onset, age of death, geographical distribution), medical terminologies (MeSH, MedDRA, SNOMED CT, ICD10, UMLS) and resources (OMIM, and, in the near future, HPO). It is therefore considered as a standard nomenclature for rare diseases, and promoted as such by the IRDiRC. This nomenclature is intended to multiple uses (codification in health information systems, registries, research databases…). Therefore this task is interrelated with WP5 for it provides the core nomenclature to be adapted to patient codification needs.
The Orphanet database is completed by producing textual information for each rare disease. In the context of this JA, a new, decentralized organization will be established with two goals: a) to have a definition for every RD in the Orphanet database, and to expand and update the encyclopaedia, and b) to disseminate high-quality articles produced by others in order to provide complete, useful and timely information to physicians and patients, as well as to other actors in the field of information, such as help-lines and national contact points. In order to achieve the first goal, the core editorial activities will be progressively transferred from the central facility at the INSERM to other participating countries, starting at M18 with Ireland, The Netherlands and Slovakia, and to others that manifest the interest and the possibility to assume this task. This transfert will be facilitated by the tools developed in Task 4.3. Translations of all or part of the website will be encouraged as a national effort in each country. To achieve the second goal, partners in WP4 will contribute identifying and assessing relevant articles according to Orphanet’s quality standards that will be published in the website for transparency.

Task 4.3 : Develop the necessary tools to track changes of the Orpha nomenc
Steering, maintaining and promoting the adoption of Orphacodes across MS by lead DIMDI

Start month:1 - End month: 36

Task 5.1: To define and set the necessary strategy and tools to implement the Orpha codes in the European countries.
Task Leader: Remy Choquet, [BNDMR, APHP,France] - Contributors: All WP5 contribut...
Task 5.1: To define and set the necessary strategy and tools to implement the Orpha codes in the European countries.
Task Leader: Remy Choquet, [BNDMR, APHP,France] - Contributors: All WP5 contributors
Start date: M1 End date: M36

Some MS have already started the work of introducing the Orphacode in their registries or health information systems, and others have expressed their interest adopting them. Different approaches have already been implemented and start producing results, raising problems and bringing solutions that are of interest for all MS. A coding nomenclature alone is not enough to guarantee that the patient data will be comparable from a member state to the other. Along with the right and quality assessed nomenclature of rare diseases (Orphanet), it is required to provide the coders with the right instructions and clear objectives of coding. Also, given the nature of the rare diseases patients and the celerity of new discoveries, it is required to handle uncertainty in diagnoses and frequent updates of the nomenclature.
All MS use morbidity and mortality recording systems. Morbidity recording systems utilize, for the generality of diseases and for the majority of countries, ICD classification. Only in a few countries other systems like SNOMED CT are utilized. The Orpha code classification is specifically dedicated to rare diseases and is used only in few countries. Taking into account these ongoing experiences, the contexts, the prerequisites, the methods to implement specific monitoring systems of RD patients will be defined.
In this part of the work, we will use a bottom-up approach to reach a consensus in defining guidelines to implement RD monitoring in MS. Starting from the existing experiences, a set of rules and guidelines will be produced in order to support the MS in implementing RD monitoring systems and the use of Orpha codes.
A steering group, comprised from the contributing institutions, will be set up by the task leader. The steering group will identify the common denominator of already existing approaches in the different countries and based on that will define:
• A complete review of current coding systems actually in place in member states and actual plans. This review should give a clear overview of possible strategies and planning as to identify RD patients in each MS. This review will help in setting the master file. (deliverable D5.1)
• The level of granularity of Orphacodes that are essential for all systems working with Orpha codes (registries, centres of expertise, others). Additional level of detail may be used but does not have to be used right from the start. (deliverable D5.2)
• A data exploitation plan, with clear objectives to be addressed by the coding investment (deliverable D5.2)
The Steering group will work during the three-year length and will meet face-to-face at each JA annual meeting and will set up a series of distant meetings. A virtual working space will be shared. A workshop will be organized during year 3 in order to present the results of the whole WP and to promote their use in countries.

Task 5.2: Specification of the required resources for coding RD consistently across Europe
Task Leader: Stefanie Weber, [DIMDI , Germany], Contributors: All WP5 contributors
Start date: M13 End date: M24

Within the second year of the project a master file will be created and populated with preexisting data from countries. It will be further specified according to the guidelines and granularity results from year 1.
The master file will be defined bringing together the current experiences of implementation in countries already using the Orphacodes, and will probably combine the definition of a significant subset of codes needed for interpretation at the European level, their alignments with ICD-10 national extensions and the minimum multi-hierarchical classification structure derived from the Orphanet central resource. (Deliverable 5.3).
Guidelines on
Policy Development for RD and Integration with other relevant initiatives by lead UNEW

Start month:1 - End month: 36

This WP will build on the work previously developed within the Eucerd Joint Action (EJA) intended to support the implementation of the EC recommendations on rare diseases at the MS level, by establish...
This WP will build on the work previously developed within the Eucerd Joint Action (EJA) intended to support the implementation of the EC recommendations on rare diseases at the MS level, by establishing position papers and recommendations issued from high-level multidisciplinary working groups in which all the stakeholders were represented. During this WP a methodology will be developed in order to prioritize areas for which there is still need to foster implementation of policies. A pre-selection of topics are proposed below as areas in which substantial unmet needs remain with respect to rare diseases and / or where a cycle of ongoing or updating of current recommendations will be required over the period of the Joint Action. For all of these subject areas, synergies will be assured with other funded initiatives and their leadership engaged. These topics largely correspond to Operational Actions defined under the Commission Communication (COM 2008 679), where work remains to be carried out (Operational actions related to improving recognition and visibility of RD will primarily be addressed by WP4 and WP5).
These topics include, but are not limited to, the following:
Thematic Priority Proposed for WP6
European Reference Networks (ERNs)
Centres of Expertise and healthcare pathways
Objective of the Commission Communication underpinning this work:
5.1: Improving universal access to high-quality healthcare for rare diseases in particular through development of national/regional centres of expertise and establishing EU Reference network

Registries, databases and data collection (including quality, and access and sharing)
Objective of the Commission Communication underpinning this work: 5.11 : Registries and databases

Integration of RDs into Social Policies and Specialised Social Services
Objective of the Commission Communication underpinning this work: 5.2 Access to specialised social services

Genetic testing/Next Generation Sequencing; Genetic Counselling; neonatal screening, Primary Prevention of rare congenital anomalies
Objective of the Commission Communication underpinning this work: 5.9 Quality management of diagnostic laboratories; and
5.10 Primary prevention

Coordinated approaches to pricing and innovative mechanisms to improve access to rare diseases therapies, including HTA
Comprehensive information systems (Help-lines, information points)
Objective of the Commission Communication underpinning this work:
5.3 Access to Orphan Drugs
5.4 Compassionate use programmes
5.5 Medical devices
5.6 Incentives for Orphan Drug Development

Comprehensive information systems (Help-lines, information points)
Objective of the Commission Communication underpinning this work: Mentioned in 5.2, as above.

E-health
Objective of the Commission Communication underpinning this work: e-health

The WP may also explore, as deemed necessary by the Consultative Group, partners and the Expert Group, topics beyond the immediate scope of the Commission Communication, where these are deemed to meet the changing needs of the field: suggested topics in this category include Best Practices / guidelines on diagnostics, Public Health Indicators and care and Methodology for assessing the Socio-economic Burden of Illness of Rare Diseases.
The precise scope of work in the above areas will form the basis of annual workplanning to reflect current and changing priorities over the course of the JA.

Task 6.1 : Implement a robust policy methodology to support the work of the Expert Group on Rare Diseases
Task Leader (Kate Bushby, UNEW) Contributors (MUW, FPS Health, WIV-ISP, BAPES, MoH CY, MoH Fr, NKCVO, INSERM, EURORDIS, UKF, INERP, OVGU, PTE, SE, OPBG, Veneto, ISS, VULSK, HDIR, Poznan University, DGS, UKCL, FISABIO-Salud P�blica, CIBER, ISCIII, WADOH via the Consultative Group)
Start date: M1 End date: M12
The partners in WP6 together with the Orphanet team and EURORDIS will be constituted to form a Consultative Group to support