www.rd-action.eu

This presentation is part of the project / joint action ‘677024 / RD-ACTION’ which has received funding from the European

Union’s Health Programme (2014-2020).

The content of presentation represents the views of the author only and is his/her sole responsibility; it can not be considered

to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or

any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use

that may be made of the information it contains.

RD-ACTION mission, state of play and support to ERNs

Ana Rath and Victoria Hedley

www.rd-action.eu

Objectives• 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).

• Promote, catalyse and trigger multi-stakeholder debates around RD

www.rd-action.eu

Key overarching messages

• Nomenclature and classification of RD need to be maintained, expanded, updated and aligned with other terminologies, including ICD-10, ICD-11, SNOMED CT and OMIM;

• Appropriate codification of rare diseases in national health systems is fundamental to improve care and research and to foster equal access to diagnostic care and treatment for people living with rare diseases across the EU;

• Recommendations of the CEG-RD - adopted by consensus by EU MS, the EC and other stakeholders - need to be further promoted and implemented in MS;

• Multi-stakeholder debates around RD are necessary at national level to support the integration on EU policy developments across EU MemberStates.

www.rd-action.eu

RD-Action at the cross-roads

• National plans and strategies

• Opportunity to wrap up different initiatives

– Codification: HIS, registries

– Registries: JRC

– Research: ELIXIR, RD-Connect, H2020, EJP?

– Best practices

– Joint Actions: JASeHN, JARC

• Context and momentum of ERNs!

www.rd-action.eu

Orphanet database

Codification

Policy

Guidance & ToolsCodification

& exploitation

ImplementationEU policies

CEGRD recosPolicy guidance

www.rd-action.eu

RD-ACTION & ERNs- Year 1

• RD-ACTION WP6 (Policy &Integration) inherited mantle of theEUCERD Joint Action

• Under 1st year of RD-ACTION, focuson providing more hands-onsupport to (primarily) the RD field,to implement Addendum– Workshops and meetings to identify

leading figures

– Matchmaker tool (2016)

– Support in bringing teams together

www.rd-action.eu

WP6 Thematic Priorities

ERNs

E-Health and data sharing

Therapy development

Registries and Data Platforms

Best Practices/

guidelines on diagnostics

Genetic testing/Next Generation Sequencing

Centres of Expertise and

healthcare pathways

• ERNs

• E-Health and data sharing

• Registries and Data Platforms

• CEs and healthcare pathways

• Genetic testing/Next Generation Sequencing (and Genetic counselling)

• Coordinated approaches to pricing and increased access to therapies.

• Translation of research to care and back again

• Public Health Indicators

• Methodology for assessing the Socio-economic Burden of Illness of rare disease

• Primary Prevention of rare congenital anomalies (in fact secondary and tertiary)

• Integration of rare diseases into Social Policies and Specialised Social Services

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From the ‘Theoretical’ to the ‘Actual’

• As ERNs are established & evolve, dedicated guidance is important to support and also to ensure a baseline compatibility and interoperability (at many levels) between the ERNs

• Worked with the ERNs to try to add value in key areas:– Established a TF to support Interoperable data-sharing within the

framework of the operations of ERNs

– Efforts to establish what ERNs require from an IT Platform

– ‘Mapping’ to see how the published Tender specs meet this vision

www.rd-action.eu

European Patient Advisory Groups

www.rd-action.eu

Workshop on Sharing Data for Virtual Care in ERNs

• Preceded by meeting of the ERNsand BoMS

• Explored options for ‘virtual consultations’ & garnered practical advice on organisation & execution of efficient & effective virtual consultations

• Highlighted ELSI around data ‘sharing’- especially in view of the new GDPR- and shared some existing good practices around consent in RD

• Clarified how patients might enter/ be ‘referred’ to the expertise of the ERN for virtual care

• Shared experiences and began to identify recommendations on the standardisation of data in the RD field

www.rd-action.eu

Future Workshops

Using standards and embedding good practices to promote interoperable data sharing in ERNs (Finalised dates: April 26-27th, Brussels)

Indicators and Outcome Measures to demonstrate the impact and efficacy of ERNs

Generation, Appraisal, Use and Dissemination of Clinical Practice Guidelines in ERNs

Exploring the potential for Centres of Expertise and ERNs to provide integrated care for RD (2018)

How might ERNs support the development of orphan medicines? (One or Two meetings)

Goal: work with the ERNs to find shared solutions to common challenges, avoid re-inventing wheels, providing support in meeting myriad goals & responsibilities. Need to Flexible and adaptive as well as strategic

www.rd-action.eu

THANK YOU FOR YOUR ATTENTION!

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