Toward a European Platform for Rare Diseases Registries Research Centre European Commission ......

Disclaimer: The contents of this presentation are the views of the author and do not necessarily represent an official position of the European Commission. © European Union, 2013

Simona Martin

Joint Research Centre

European Commission

Toward a European Platform

for Rare Diseases Registries

2 EPIRARE International Workshop – Rome – 21-22 October 2013

The Joint Research Centre within the European Commission

President

José Manuel Barroso

Director-General (Department)

Dominique Ristori

Joint Research Centre

28 Commission Members

DG Research & Innovation (RTD)

Commissioner

Máire Geoghegan-Quinn

Research, Innovation & Science

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The Joint Research Centre within the European Commission

Established 1957.

7 institutes in 5 countries.

2822 permanent and

temporary staff in 2012.

1443 scientific publications

in 2012.

European Commission

Directorates General

Directorates Institutes

Units Scientific Units


To provide scientific and technical support for the conception,

development, implementation and monitoring of EU policies

Close to the policy-making process, it serves the common interest of

the Member States, while being independent of private or national

special interests

The Mission of the Joint Research Centre

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Institute for Health and Consumer Protection

Public Health

Policy Support

C. Nicholl

Molecular

Biology and

Genomics

J. Kreysa

Nano-

Biosciences

H. Stamm

Systems

Toxicology

M. Whelan

Chemical

Assessment

and Testing

P. Aguar

Director K. Maruszewski


IHCP Policy Support Areas

Genetically Modified Organisms

Nanotechnology

Public Health

Food and Consumer Products

Chemical Assessment &

Alternatives to Animal Testing

Healthcare Quality

Nutrition

Disease registries

Behavioural Sciences

Medical Devices


Operates as the interface between research and EU policy

Core values: integrity, transparency

Activities are focused on the Commission’s policy priorities

The Joint Research Centre


Communication from the Commission to the European

Parliament, the Council, the European Economic and Social Committee

and the Committee of the Regions on “Rare Diseases: Europe’s

challenges” (2008)

Council Recommendation on an action in the field of rare diseases

(2009)

Directive 2011/24/EU on patients’ rights in cross-border

healthcare

Legal Framework


1. To improve recognition and visibility on rare diseases

2. To support policies on rare diseases in the Member States

3. To develop European cooperation, coordination and regulation

for rare diseases

European Commission’s Strategy in the Field of Rare Diseases


Based on the specificities of rare diseases:

limited number of patients

limited knowledge and expertise

fragmentation of data sources

across the Member States

European Added-Value


EPIRARE, RD-CONNECT, PARENT JA, EUCERD JA, ORPHANET JA

outcomes

Inputs from health care providers, patient representatives (EURORDIS), researchers, government public health agencies, etc.

EU Health Programme

Framework Research Programmes


Key instruments for:

increasing knowledge on RD

supporting

• clinical research

• epidemiological research

post-marketing surveillance of orphan drugs

supporting

• health services planning

• social services planning

improving the

• quality of care

• quality of life

• survival of patients

Rare Diseases Patient Registries


No single institution / no single country has sufficient numbers of

patients to conduct clinical and translational research

Geographic dispersion of rare diseases patients – major impediment

to patient recruitment into clinical trials

Rare Diseases Patient Registries


Variability, fragmentation, difficulties in registration due to:

differences in stakeholders’ needs and objectives

lack of common standards

landscape of RD patients registration changing in the MS (national plans,

little cross-talk with other initiatives)

inconsistency in financial sustainability

Need for collaboration and data exchange (usually transnationally)

due to:

scarcity of cases

research progress (study designs – natural history, biomarkers, valid

endpoints) – interoperability with other research infrastructures

(biobanks, genetic databases)

EPIRARE / EURORDIS


1. RD registries need to be internationally interoperable as much as

possible and the procedures to collect and exchange data need to be

harmonised and consistent, to allow pooling of data when it is

necessary to reach sufficient statistically significant numbers for clinical

research and public health purposes.

EUCERD Recommendations (1)


3. Collected data should be utilised for public health and research

purposes.

3.1. The use should be maximised to support policy development

at local, regional, national and international level; facilitate clinical

and epidemiological research and monitoring of care provision and

therapeutic interventions.

3.2. Pooling of data across data collections including internationally

should be encouraged to reach a critical mass for data analysis.

Data should be made accessible to groups with legitimate

questions such as researchers and policy/decision makers.

EUCERD Recommendations (2)


European Commission

addressed to all RD registers in Europe (developed 2011, implemented 2012)

80% in favour of an EU platform

73% in favour of an EU portal

Main services expected (39% - 69%) Technological tools (IT tools, networking tools) Specific expert advice (legal, quality, privacy, ethics) Resources (model documents, quality control systems, access to useful data)

SURVEY

EPIRARE


Directorate-General Health and Consumers

(DG SANCO)

Directorate-General Joint Research Centre

(DG JRC)

Development and maintenance of the

European Platform on Rare Diseases

Registration


Principal goal of the Platform

To enable data analysis within and across many rare

diseases and to facilitate clinical trials and other

studies and research


1. Promote interoperability of existing registries

2. Support for new registries

3. Act as a hub providing access to all data collection

in the field of RD

4. Provide IT tools to maintain already existing selected data

collection

Main Objectives


Activities will be developed

Taking into account outcomes of the projects funded by the Health

Programme and Framework Research Programmes

Ensuring collaboration with national registries

Establishing collaboration with IRDiRC

Establishing collaboration with the Global Rare Diseases Patient Registry

and Data Repository (GRDR)

Establishing collaboration with the Cancer Registries (ENCR)

Methodology


To develop and maintain communication tools with existing registries

and stakeholders

To create and make available tools to support the development

of new registries

To provide training for stakeholders willing to establish new registries

and those managing standalone existing registries

To agree on Minimal Data Set to be collected by all RD registries

To stimulate networking and collaboration between RD registries

stakeholders

Tentative Tasks


Platform for communication with stakeholders – information website

and interactive communication platform for exchange of experiences

Act as a hub providing access to all data collection in the field of RD

Advisory group composed of experts from MS

Tentative Deliverables (1)


Stimulation of networking and collaboration between RD registries

stakeholders; organisation of workshops and consensus mechanism

to harmonise procedures/protocols for improving use/quality of RD

registry data; definition of appropriate governance models

Training workshops for stakeholders interested in the development

of new registries and in improving registration in existing registries



Support package for existing registries (IT tools to improve

interoperability, set of guidelines on management, sustainability

and technical aspects of registries)

Support package for new registries (IT tools to establish new registry,

set of guidelines on management, sustainability and technical aspects

of running new registries)

Development of statistical data, visualisation and reporting tools

for illustrating and comparing RD data across the EU



Maximizing access to RD patient data by establishing transparent

and user-friendly services

Maximizing utility of knowledge generated by individual registry

based on communication and connectivity between registries

(EPIRARE/EURORDIS)

The Platform is intended to fulfill the aims of

Toward a European Platform for Rare Diseases Registries Research Centre European Commission ......

Documents

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