The EPIRARE project aims to build consensus around registering rare disease patients in Europe. Over 30 months, it will explore establishing a common minimum dataset for rare diseases and develop policy scenarios for an EU-wide rare disease registry. The project involves 10 partners and is coordinated by the Italian Ministry of Health's National Institute of Health. It will examine the legal basis, data quality standards, and sustainability of a future EU rare disease registry platform.

1. www.eurordis.org
EPIRARE:
Building Consensus and Synergies for the
EU Registration of Rare Disease Patients
Yann LE CAM
Chief Executive Officer
EURORDIS

2. The EPIRARE project
General Objectives:
To build consensus and synergies to address the regulatory,
ethical and technical issues associated with the registration of
rare disease patients in Europe.
To explore the feasibility of registration of minimum data set
common to all rare disease
To elaborate possible policy scenarios for EU policy on rare
disease patients registries
To prepare the feasibility of a future EU registry platform (legal
basis, governance framework, option for sustainability, …).
2 The EPIRARE Project

3. The EPIRARE project
A 30-month project
Coordinated by the
Istituto Superiore di Sanità (ISS) (Italian Ministry of Health)
+
2 private organisations
10 Associated Partners:
8 public institutions
Total budget of 1.1M€
(60% of which from the European Commission)
3 The EPIRARE Project

4. The EPIRARE project
Organisation of the work:
WP1- Coordination of the project
WP2 - Dissemination of the project
WP3 - Evaluation of the project
WP4 - Legal basis
WP5 - Policy Scenarios on the scope aims, governance and
sustainability of registration of RD patients
WP6 - Common data set and disease specific data collection
WP7 - Data quality, validation and data sources integration
WP8 – Current needs of EU registration on RD and platform
facilities serving registration need
4 The EPIRARE Project

5. The EPIRARE project
WP1- Coordination of the
project
WP8 – Current needs of EU
registration on RD and
platform facilities serving
registration need
WP6 - Common
data set and WP4 - Legal basis
disease specific WP7 - Data quality,
data collection validation and data
sources integration
WP5 - Policy Scenarios on
the scope aims, governance
and sustainability of
WP2 - registration of RD patients WP3 -
Dissemination of Evaluation of
the project the project
5 The EPIRARE Project

6. The EPIRARE project
WP8 – Current needs of EU registration on RD and platform
facilities serving registration need
A survey to be conducted through existing registries, in order to collect
information on existing registration initiatives within the interests not
only of academicians and private companies, but also of the patients.
Addressed aspects: scope and aims, legal base for collection of data,
measures for data protection, organisational and financial support,
number of patients registered, unmet needs, data collected, means of
collection and quality of data and data sources.
A survey, conducted by EURORDIS, will also address experience and
expectations of patients organizations regarding patient registries run
by academic groups, industry or public administrations.
The information collected will be used to identify the services necessary
to improve the quality, promote and facilitate the use of the registry
platform and to report appropriately to the public and other
stakeholders.
6 The EPIRARE Project

7. The EPIRARE project
WP4 - Legal basis
• This WP will assess the current transposition of the Data
Protection Directive and in particular the transposition of
Art. 8 of the Directive,
• will consult EUCERD Member and other national policy
makers and
• will set out the elements (e.g.: scope of data collection, the
nature of data to be collected, the data sources to be used)
to generate a policy option (best practice model) which can
be assured and implemented by national policy makers /
institutions.
7 The EPIRARE Project

8. The EPIRARE project
WP6 - Common data set and disease specific data collection
• This WP defines a common data set with correlated
Standard Operating Procedures, which is independent
of the registered rare disease, and of other disease-
specific modules, in order to provide information
consistent with the agreed scope of the registers which
is useful for public health actions and for other aims.
8 The EPIRARE Project

9. The EPIRARE project
WP7 - Data quality, validation and data sources integration
This WP assesses:
a) the internal and external validity of existing data as well as the use of
primary or secondary data sources and completeness of follow-up.
b) the need for performing an external quality control scheme to
monitor compliance of platform registration activities to inclusion
criteria
c) the need for the transnational pooling of collections on RD patients,
in order to attain sufficient statistical power for clinical and public
health investigations
c) the necessary data source integration and completeness of reporting
to get reliable results with respect to different aims and data analysis
and ways to assess it.
d) the opportunities offered by the collaboration of patients and POs in
increasing the completeness of case registration.
9 The EPIRARE Project

10. The EPIRARE project
WP5 - Policy Scenarios on the scope aims, governance and
sustainability of registration of RD patients
• This WP addresses the scope, aims, governance and
ownership of RD patient registration and develop possible
policy scenarios.
• Consensus will be build toward an agreed “common data set”
for all RD registries and databases
• Different options ensuring the long-term sustainability of the
RD registers without affecting the independence and scientific
value of the registration activities and products will also be
assessed.
• This work will be conducted by EURORDIS – ISS and all
project partners - in close relation with the EUCERD, and it will
support a specific workshops on “registries and data bases”.
10 The EPIRARE Project