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Promoting Implementation of Recommendations on Policy, Information and Data for Rare Diseases [RD-ACTION] [677024] - Joint Actions
Project abstract

Rare diseases (RD) have been identified as one of the paradigmatic fields in which actions conducted at the European level constitute the adequate response to their specific problems: poor recognition leading to diagnostic delay and inappropriate management including adapted social services, poor health outcomes, social burden, limited knowledge on natural history and pathophysiology leading to an insufficient development of new therapies. The low prevalence and the specificity of RD make that a global, multi-stakeholder approach, intended to gather specific expertise and to build shared strategies is necessary to address these issues.
The general objectives of RD-Action are to:
▪ Support the further development and sustainability of the Orphanet database, the biggest global repository of information on RD
▪ Contribute to solutions to ensure an appropriate codification of RD in health information systems
▪ Continue implementation of the priorities identified in Council Recommendation 2009/C151/02 and the Commission Communication (COM 2008 679) on RD, with a view to ensuring the sustainability of the recommended priority actions and to support the work of the Commission Expert Group on Rare Diseases (CEGRD).
This JA will expand and consolidate the achievements of the former JAs on RD supported by the European Commission: the Orphanet JA and the EUCERD JA. More precisely, this proposal has the ambition to help member states to implement the recommended measures adopted or to be adopted by the CEGRD and to produce the data necessary for countries to do so. Interactions between the production of data at the Orphanet database level and the implementation of policy priorities including codification will be strengthened during this JA.RD-Action large geographical coverage is key to success as it will promote the transfer of European recommendations into national policies and the collection of information and concerns from MS to the CEGRD, thus to the European Commission.

Summary of context, overal objectives, strategic, relevance and contribution of the action

Rare diseases (RD) have been identified as one of the paradigmatic fields in which actions conducted at the European level constitute the adequate response to their specific problems: poor recognition leading to diagnostic delay and inappropriate management including adapted social services, poor health outcomes, social burden, limited knowledge on natural history and pathophysiology leading to an insufficient development of new therapies. The low prevalence and the specificity of RD make that a global, multi-stakeholder approach, intended to gather specific expertise and to build shared strategies is necessary to address these issues.
The general objectives of RD-Action are to:
▪ Support the further development and sustainability of the Orphanet database, the biggest global repository of information on RD
▪ Contribute to solutions to ensure an appropriate codification of RD in health information systems
▪ Continue implementation of the priorities identified in Council Recommendation 2009/C151/02 and the Commission Communication (COM 2008 679) on RD, with a view to ensuring the sustainability of the recommended priority actions and to support the work of the Commission Expert Group on Rare Diseases (CEGRD) and to support implementation of the newly established ERNs
This JA expands and consolidates the achievements of the former JAs on RD supported by the European Commission: the Orphanet JA and the EUCERD JA. More precisely, this project has the ambition to help member states to implement the recommended measures adopted or to be adopted by the CEGRD and to produce the data necessary for countries to do so. Interactions between the production of data at the Orphanet database level and the implementation of policy priorities including codification are being strengthened during this JA. RD-Action large geographical coverage is key to success as it will promote the transfer of European recommendations into national policies and the collection of information and concerns from MS to the CEGRD, thus to the European Commission.

Methods and means

Methods and means:
The governance of the action is organised into three levels in order to gather specific expertise and to build shared strategies to address the specific issues of RD:
- a General assembly,composed of one member per designated authority, which is the decision-making body of the consortium in charge of review and steer the project.
- An Executive committee composed by the 7 sub-projects leaders in charge of the supervision, communication and cross-talk promotion
- Sub-projects teams in charge of executing and monitoring the tasks and establish cross-talks with the other Workpackages (WPs).
- Workgroups established ‘à la carte’ according to the need identified

Fig.1 RD-ACTION governance and stakeholders interactions

The executive committee of RD-ACTION composed of all Workpackage leaders has met every two months to discuss the advancements of the project and the potential mitigating actions to be taken in order to ensure on-time delivery of the deliverables. All meeting reports are available on the internal website, here

All partners of the action are kept informed on all progresses, issues and identified risks through the internal newsletter, RD-ACTIONews which is sent every two months and through the internal website.
The General public can also keep-up with the project progresses through the public website, www.rd-action.eu, where news are regularly posted as well as all material produced by the different WPs and also through Orphanews, the RD-ACTION public newsletter which is issued every two weeks. An informative RD-ACTION leaflet for all audiences is also available on www.rd-action.eu.
Orphanet Report Series covering topics relevant to RD are also regularly published on www.orpha.net.

Work performed during the reporting period


Achievemtns 2015-2018:
- Organisation of the ECRD 2016. The conference has been held in Edinburgh from 26 to 28 May, it brings together over 80 speakers and more than 800 participants, covering six themes of content over two days: from the latest research, to developments in new treatments, to innovations in healthcare, social care and support at the European, national and regional levels. The focus in 2016 was on Game Changers in Rare Diseases.
- EUROPLAN National conferences/workshops were organised in 19 countries to promote the implementation of national plans for rare diseases and facilitate the integration of EU rare disease policies and recommendations into the national system, (http://www.rd-action.eu/europlan-rd-national-plans-conferences-reports/)
- Organisation of 10 workshops (see below)
- Publication of Literature narrative review “Sustainable Health Systems for Rare Diseases” and publication of six policy briefs on Resilience, Primary prevention, Actions on educational programmes, Health systems financial sustainability, integrated care and Patient Empowerement (http://www.rd-action.eu/leaflet-and-documents/)

- Orphanet database evolutions in order to adapt to the community needs and to be transparent and traceable
The annual update of the information of expert resources linked to the professionals registered in the Orphanet database was launched at the end of May 2016, in May 2017 and in May 2018.
Release of the Orphanet curation platform at curation.orpha.net
- Organisation of the Orphanet evaluation
1. Organisation of the Annuals Orphanet users satisfaction survey
2. Launching of Orphanet stakeholders satisfaction and utility survey
3. Setting up of an internal evalutaion process
- Facilitation of Orphanet sustainability through decentralisation of editorial activites, production of a Sustainability plan and Analysis of compatible legal models. The OrphaNetWork Operating committe was also set up in order to reach tne same level of corporate culture and knowledge across the Orphanet Network.
- For Steering, maintain and promoting adoption of Orphacodes across MS (http://www.rd-action.eu/leaflet-and-documents/)
1. Review of the technical existing implementations of RD coding to have a clear overview of specifications strategy of the required resources for coding RD consostently across MS
2. preparation of Standard procedures and guide for the coding with Orphacodes to facilitate the implementation of Orpha Codification into Health Inofrmation Systems
3. Preparation of a master file and implementation manual for statisticla reporting to ensure data sharing and exploitation at the EU level and ensure consistency in codification with Oprhacodes amongts MS
4. Specifications for an integrated coding application with Orphacodes to facilitate the practicla implementation of Oprhacodes in MS
5. Recommendations for routine maintenance of codification resources for RD for standardisation of long-term maintenance of the codification system in MS
6. A final workshop set the scene of RD coding situation in Europe and focused on the WP5 legacy and the future perspectives of Orphacodes’ use. Starting from the resources developed during the RD-action, the issue of RD coding was tackled from the perspectives of all the relevant stakeholders involved: WHO, Orphanet, JRC, ERNs. Examples of orphacodes’ use at regional/national level (Generalitat Valenciana-Spain, Portugal, Ireland) have been presented as well. The agenda and the presentations are available (http://www.rd-action.eu/wp-content/uploads/2018/07/WS-Codification_final_presentations.zip).

- Establishment of a Task Force on Interoperable data-sharing within the ERN framework. The scope of the TF is to define, by the time of the launch of the first wave of ERNs, the elements needed to provide a long term vision in the form of a European interoperability roadmap for data sharing in the framework of operations of ERNs. More immediate goals have been to build

The main output achieved so far and their potential impact and use by target group (including benefits)

All major RD-ACTION outputs are available on the website: www.rd-action.eu

The actions of the project are intended to meet the needs of patients and their relatives, healthcare professionals,researchers, industry and policy makers.
The projects targets experts and policy-makers to support them in their work delivering recommendations and position documents on RD policy. Patients are not only ultimately taking benefit from these policies, but are involved, through their patient organizations, in them.
The JA works with experts, patients, policy-makers, people involved in codification and in registries, industrials, and all the stakeholders in the field.

As far as Orphanet database is concerned, it is a strategic element in national policies for RD. The nomenclature and classification of RD are the basis for codification in health information systems. The Orphanet encyclopedia is intended to help professionals in their clinical practice, but patients and their relatives also
benefit from it. The high-quality directory of expert resources and patient organizations is of help both for health professionals and for patients, improving referrals and patient orientation. Directory of resources related to research promotes networking and collaborations. Industrials can identify experts and resources by this mean. Directory of orphan designations and drugs linked to their indications and to rare diseases is also an important piece of information for patients, healthcare professionals, researchers and pharma industry. Production of reports (ORS) containing compiled data and analysis is of help for policy-makers, and for experts in the CEGRD. Data is delivered through the Orphanet website, which has 82,000 pages views/day from more than 200 countries, as well as massive datasets for free re-use in machine-readable formats through Orphadata (approximately 17,000 downloads/month) [figures from the "Orphanet-2015 activity report" ]. The Orphanet website is currently available in 7 languages, but the textual information is available in many more languages.
The IT evolution of the database during this JA will allow to translate the website in virtually every EU language,depending on MS translation capability.

Through the development of coding guidelines and master file all routine users (collectors as well as users) of data on rare diseases will be guided in how to collect data in a standardized way thereby allowing a more reliable interpretation of the collected data. Patient groups, decision makers as well as politics will benefit as they will be able to compare more reliable data and identify patients better once the standardized way of coding is used. Investigators in clinical research will benefit from a reliable identification of RD patients in health information systems and will be able to capture data from the clinical setting. People involved in the codification will be guided in the coding process, which will make it more easy and reliable.

The project is in perfect line with the objectives of the a third Programme for the Union's action in the field of health (2014-2020), in particular those concerning RD. The aims of this project include improving coordination of the action of health professionals, patient organizations and stakeholders in areas in which the
European level provides an added value, in particular ERNs, cross-border healthcare and genetic testing, interoperability between databases and registries, and consistent codification of patients suffering from RDs. Moreover the project is exploring the issues of resilience and sustainability of health systems for RDs.
We are providing efficient support implementing EC recommendations to both the CEGRD and to MS, we will disseminate best practice guidelines and provide practical guidelines and instruments for RD codification in health information systems in order to achieve better and safer care for European citizens suffering from rare diseases. This support includes pr

Achieved outcomes compared to the expected outcomes

Major results achieved during the three years of the action and their outcomes are presented in table 1

Dissemination and evaluation activities carried out so far and their major results

RD-ACTION is using a wide variety of dissemination methods and tools to raise awareness, inform, engage and promote the outcomes of the Joint Action. Dissemination is flexible, and will take advantage of media channels, formal materials, conferences, workshops and face-to-face meetings to share information amongst relevant stakeholders.
All partners are engaged in the sharing of information within their networks.
The overall strategic approach is flexible and open to adaptation in line with constant evaluation and feedback of the methods And a dissemination plan was made available in April 2016 on www.rd-action.eu.

Online media are the most versatile and the most frequently used channel of dissemination.
- Project website (see below)
- Websites of RD-ACTION partners: all partners of the Joint Action have included at least a link to the RD-ACTION website.
- Orphanews reports the latest developments in the field of rare diseases and orphan drugs, and therefore communicate on the outcomes of RD-ACTION.
The content of the newsletter is comprehensive of all updates in the rare disease community. Each newsletter is organised thematically, which enables more focused communication of the work packages’ outcomes. This also makes it easier for stakeholders to access information particularly relevant to their field.
OrphaNews is freely available and electronic. It is designed to suit all stakeholders in the rare disease and orphan drugs community and to be easily accessible. OrphaNews is sent to subscribers (more than 12.800)
twice monthly, and all past issues are archived online at www.orpha.net.

- Partners' newsletters: those partners with newsletters are encouraged to include information on the Joint Action according to the target group of the newsletter in order to inform on the development of the project and outcomes. When communicating about RD-ACTION in other newsletters, partners must include the link to www.rd-action.eu to channel interested parties back to the website.

-Social media: the WP6 “Policy Development for Rare Diseases and Integration has a specific twitter account: @RareDiseaseEU.
This twitter account has over 900 followers. Using social media creates an engaging presence to enable interested parties to exchange information and further disseminate updates within their own networks.

- Materials: materials used to inform stakeholders of updates are made available on the RD-ACTION website and are be disseminated via the media channels aforementioned where relevant (leaflet, Orphanet Report series, posters and speakers presentations at congresses and press releases.
In order to keep the scientific community informed during year 1-2, RD-ACTION has been presented in nearly 20 events.


Conference and workshops having take place:
ECRD 2016 (http://www.rare-diseases.eu/)
3 Workshops: Sustainable Health Systems for Rare Diseases
Workshop: Exchanging Data for Virtual Care in the Framework of ERNs
Workshop: Using Standards and Embedding Good Practices to Enable Interoperable Data-Sharing in ERNs
Workshop: Indicators and Outcomes for ERNs
Workshop:How can ERNs generate, appraise and utilise clinical practice guidelines, to enhance the impact of consensus guidelines in national health systems?
Workshop:Creating a Sustainable Environment for Holistic & Innovative Care for Rare Diseases & Complex Conditions
Workshop: How ERNs can add value to clinical research in rare diseases and highly specialised domains
WP5 FInal Workshop
19 EUROPLAN National conferences

Dissemination activities related to specific WP progresses are also regularly carried out.

Evaluation activities carried out so far: Survey of the joint action partners' satisfaction, survey of the Orphanet users' satisfaction and after each congress, meeting, training, workshop organised satisfaction of the participant is assessed in order to improve the further events. Orphanet stakeholders survey. Joint ACtion Evaluation report