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Project “Building Consensus and synergies for
the EU Registration of Rare Disease Patients”
(EPIRARE)
Deliverable 10.2
Final Report on the implementation of the project
activities
(Activity period: 16 April 2011 – 15 April 2014).
Grant Agreement n. 20101202
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Contents
I. Detailed description of all activities performed ............................................................................ 3
A. Activities performed and milestones achieved during the project ........................................ 3
1. Work Package 1 (WP1) “Coordination of the project” ......................................................... 3
2. Work Package (WP2) “DISSEMINATION OF THE PROJECT” .................................................... 6
3. Work Package 3 (WP3) “Evaluation of project” ................................................................... 7
4. Work Package 4 (WP4) “Legal basis” .................................................................................. 9
5. Work Package 5 (WP5) “Policy scenarios on the scope, aims, governance and
sustainability of registration” ..................................................................................................... 11
6. Work Package 6 (WP6) “Common data set and disease-specific data collection” ............. 13
7. Work Package 7 (WP7) “Data quality, validation and data integration” ............................ 14
8. Work Package 8 (WP8) “Current needs of EU registries on RD and platform facilities
serving registries needs” ............................................................................................................ 16
B. Scientific publications resulting from the project. .............................................................. 17
II. Deviations from the initial work program .................................................................................. 17
III. Achievement of the objectives ................................................................................................ 18
A. Comparison of planned and actually achieved deliverables and date of delivery ............... 18
B. Evaluation report ................................................................................................................. 18
IV. Further considerations ............................................................................................................. 25
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I. Detailed description of all activities performed
A. Activities performed and milestones achieved during the project
1. Work Package 1 (WP1) “Coordination of the project”
The goal of this WP is to manage the project and to make sure that it is implemented as planned.
This goal was achieved mainly with the organization of physical meetings and call conferences
addressing specific management issues and discussing progresses in the preparation of deliverables.
Much activity was devoted to the revision of documents sent by partners in order to suggest
adaptations to reach a coherent presentation and the unity of intents of the dissertation of the project
matters. Within the responsibility for assuring the project implementation according to original
plans, much activity was also devoted to assist the development of activities in WP6. Moreover, this
WP cared for the adaptation of the project plan and the implementation of adaptive activities to
address external unforeseen developments which changed substantially the situation framework in
which the EPIRARE project was conceived and to save the effectiveness of the project action and
deliverables. Finally, WP1 contributed to the dissemination of the information on the EPIRARE
activities.
Finally, the request has been submitted to EUCERD, as foreseen in the contract agreement, for the
establishment of an EUCERD Working Group on Registries and databases, with EPIRARE acting
as its scientific secretary (Annex 1). This request has never been answered by the EUCERD
Secretariat, nor has been put in the Agenda of the several EUCERD meeting for discussion with
EUCERD members.
a) 1st Year (16 April 2011-15 April 2012)
Call conferences:
1st EPIRARE Call Conference, April 28, 2011
2nd EPIRARE Call Conference, December 21, 2011
Project meetings:
preliminary meeting with a restricted group of WP leaders, precisely WP5, WP6 and WP7 in
Rome, June 3, 2011, in preparation of the kick off meeting;
1st meeting of the WP Leaders and the Advisory Board, Rome, July 11 and 12, 2011;
technical meeting of the WP leaders to comment on the results of the EPIRARE survey, Rome,
January 23, 2012
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Participation in the following meetings to disseminate information on the EPIRARE activities:
Participation in the EMA-EUCERD workshop: Towards a public-private partnership for
registries in the field of rare diseases, London, 4 October 2011
b) 2nd Year (16 April 2012-15 April 2013)
3rd EPIRARE Call Conference, June 18, 2012
2nd meeting of the WP Leaders and the Advisory Board, Brussels, May 23, 2012, in
conjunction with ECRD meeting. (Annex 2)
3rd Meeting of the WP Leaders and the Advisory Board, Rome, 10 October 2012, in
conjunction with the 1st International Workshop on Rare Diseases and Orphan Drug Registries
(Annex 3)
Meeting with Samantha Parker, Advisory Board member – Rome,10 July 2012
Adaptive activities
While waiting for the decisions of EUCERD and the European Commission regarding the
establishment of a Working Group on Registries, and due to the developments occurring in
some EU Countries regarding RD registries, WP1, upon request of the national experts,
established a Working Group including these external experts and undertook an urgent activity
(“Accelerated Action on Common Data Elements”) promoting information sharing among
the experts involved in planning and implementation of national institutional Registries on
rare diseases. This activity was undertaken in order to promote coherence between EPIRARE
debate and deliverables and the national decision making regarding national RD registries, as
well as to facilitate consistency of data collections among the national registries. For this
activity, the WP1 collected information and carried out a comparative analysis of the Common
Data Elements being planned in the national registries.
EPIRARE Call Conference with the newly established CDE Working Group, 18 June, 2012 (Annex 4)
EPIRARE Call Conference with the newly established CDE Working Group, July 12, 2012 (Annex 5)
Meeting 8 October 2012 with the experts involved in national institutional RD registries
(Annex 6)
Following the presentation at the EU Parliament of the revision of the Directive 95/46/EC on
the protection of individuals with regard to the processing of personal data and on the free
movement of such data,WP1 has also been working, together with WP4 and WP7, on the preparation of a formal request of amendments of the Draft Regulation to the EU Parliament
(Deliverable 2.3) and of a petition to the EU Parliament (Deliverable 2.4), in order to preserve
the collection and sharing of scientific data of patients with rare diseases, at national and
international level.
The petition text was published in an on-line petition site (http://www.change.org/p/don-t-stop-
research-on-rare-diseases-2) providing explanations in 9 languages
(http://www.epirare.eu/petition.html) and, with the collaboration of the project partners, requests
for support were disseminated to patient associations in Europe.
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In order to support the activities of WP6 and the definition of Common Data Elements (CDE), a
study of indicators relevant as potential platform information output was carried out building on
previous work of other EU-funded initiatives and other international initiatives. Following this
step, a list of candidate variables for the definition of a set of CDE was defined. With this basis,
a questionnaire was designed to carry out an on-line survey of registries aiming to assess the
frequency of use of these candidate CDE, the survey was launched and the data collection was
concluded in about one month. The analysis of the data collected was carried out in the
following year.
Participation in the following meetings to disseminate information on the EPIRARE activities:
6th TREAT-NMD Curators’ & 5th TGDOC Meeting, September 29 and30, 2012, Istanbul,
Turkey
European Conference on Rare Diseases, Brussels, 24-25 May 2012 (Oral communication)
15th European Health Forum Gastein – Bad Hofgastein (AT), 3-6 October 2012 (Poster)
Meeting of the Parent Joint Action – Brussels, 13 June 2012
Meeting of RD –Connect, Sitges (Spain), 25-27 January 2013, with poster presentation
EB-CLINET Register Workshop. Wien (Austria), 4-5 April 2013, with an oral presentation.
c) 3rd Year (16 April 2013-15 April 2014)
The 4th Meeting of the Project Partners and Advisory Board was organized to take place in Rome
on 29 April 2013 (Annex 7).
The analysis of the results of the survey of Registries on CDE was carried out and preliminary
results were presented at the 4th project Partners and Advisory Board meeting. This analysis was
the basis for the definition of the set of CDE proposed for the EU Platform of Rare Disease
Registries and for the organization of the variable in modules with different use options.
(Deliverables 9.1 and 9.3)
Participation in the following meetings to disseminate information on the EPIRARE activities:
EURORDIS Membership Meeting. Dubrovnik, 30 May-1 June 2013
Participation in the 2013 Transnational Summit on Trustworthy Use of Data for Health,
Brussels, 3-4 June 2013. Organized by the International Medical Informatics Association
(IMIA)
4th International Symposium on Disorders of Sex Development. Glasgow, 7-9 June 2013, with
oral presentation
Meeting on Lesch-Nyhan Disease. Paris, 15 June 2013, with an oral presentation
The 8th ICORD International Conference on Rare Diseases and Orphan Drugs. St Petersburg
(Russia) 1-2 November 2013, with oral and poster presentations
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2. Work Package (WP2) “DISSEMINATION OF THE
PROJECT” The goal of this WP is to ensure that the results and deliverables of the are made available to the
target groups.
a) 1st Year
The WP2 has created:
the official logo of the project which is used at any public appearance and document;
promotional printed material to be distributed during the project meetings and conferences,
including a printed leaflet (Annex 8).
the project website (www.epirare.eu) which describes the project and its work packages, its
structure and its collaborating partners. The website is also regularly updated with information
on the project activities.
The project web site included a section dedicated to the establishment of a network of additional
collaborating partners, open to all experts interested to be involved in the preparation of the
documents, so that the deliverables could be prepared taking into consideration the views of a
wide range of experts. Moreover, it was expected in this way to increase the project impact by
disseminating its deliverables to an audience beyond the usual known circuits. Requests of
participation in this network were received during the whole duration of the project and the list
of partners, published in the website, was continuously updated.
b) 2nd Year
Organization of the International Workshop “Rare Diseases and Orphan Drug Registries”,
Rome, 8-9 October 2012 (Annex 9)
Preparation, upon request of the European Commission, of a poster to be presented at:
o Gastein Conference, October 2012
o EUPHA/ASPHER conference. Malta, November 2012
c) 3rd Year
Organization of the 2nd International Workshop “Rare Diseases and Orphan Drug Registries”,
Rome, 21-22 October 2012 (Annex 10)
Organization of the EPIRARE Workshop “National Registries of Rare Diseases” Rome, 4-5
March 2014 (Annex 11)
Preparation and publication of a short video (Half of a Score), in English language, to promote
registration of rare disease patients. This video is published on YouTube in two versions: a short
spot, addressed to RD patients and edited with subtitles in French, German, Italian and Spanish;
and a longer version with the spot followed by interviews to industry, patient association and
institution representatives (S. Parker, Y. Le Cam, D. Taruscio, respectively) explaining why
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patient registries have a peculiar importance for rare diseases. This longer version was prepared
to target physicians and the Members of the EU Parliament. Links to all videos can be found in
the EPIRARE website page http://www.epirare.eu/video.html).
Preparation of pen-drives, pre-loaded with the different versions of the short video “Half of a
Score” and their distribution at the EU Parliament Lunch Debate organized together with WP5
(see WP5 activities).
Establishment of a Twitter account (@EPIRARE; https://twitter.com/EPIRARE). Through this
account as well as other communication channels (other websites, conferences etc), information
of the project activities, and in particular the video “Half of a Score”, has been disseminated.
The messages we posted have been re-twitted very effectively and the success of this
communication system prompted us to go on disseminating information on the project and
resulting activities even beyond the conclusion of the project.
3. Work Package 3 (WP3) “Evaluation of project” The goal of this WP is to verify if the project is being implemented as planned and reaches the
objectives
Beside the activities related to the WP scope, WP3 has been actively promoting the EPIRARE
project, in fact we used many Rare Diseases activities to make the project familiar to all
stakeholders. The WP3 has also contacted many medical specialists, who treat and follow up rare
diseases patients, so they could also help disseminate the overall project. Finally, WP3 is actively
taking advantage of its own information tools (website, social networks profiles, ect.), in order to
ensure more visibility of the EPIRARE project.
Communication with patient associations and patients themselves (electronic, paper, personal):
Collaboration with the medical societies
Collaboration with the National Advisory Board for Rare Diseases at MoH
Active use of all rare diseases raising-awareness event in Bulgaria (e.g., Rare Disease Day,
different charities, etc.
Publications relevant to the project
Iskrov G, et al. Challenges to orphan drugs access in Eastern Europe: The case of Bulgaria.
Health Policy (2012), http://dx.doi.org/10.1016/j.healthpol.2012.08.013
Miteva Ts, Iskrov G, Stefanov R. Review of the epidemiological registries in Bulgaria, (2012)
http://www.raredis.org/?page_id=2044&mel=5&smel=52&lang=en
Iskrov G, Miteva Ts, Stefanov R. Rare diseases and orphan drugs: challenges and priorities.
Pediatrics (2012). (In print)
Iskrov G, Miteva Ts, Popova , Stefanov R. BAPES – 7 years of deliberate actions in rare
diseases field in Bulgaria and Eastern Europe (poster). Presented at Third National Conference
for Rare Diseases, 14-15 September 2012, Plovdiv, Bulgaria (In print)
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Iskrov G, Miteva Ts, Popova , Stefanov R. diseases – an important priority area on EU level
(poster). Presented at Third National Conference for Rare Diseases, 14-15 September 2012,
Plovdiv, Bulgaria (In print)
a) 1st Year
The WP3 collaborated to the spreading of the EPIRARE survey of RD registries amongst Bulgarian
registries.
Participation in the following events to disseminate information on the EPIRARE activities:
Stefanov R. Rare diseases in Eastern Europe – from terra incognita to a public health priority
(presentation). Presented at Second All-Russian Rare Diseases Conference, 21-22 April 2011,
Saint Petersburg (Russia)
Stefanov R. Overview of the European activities on rare diseases (presentation). Presented at
Bulgarian Gastroenterology Society Board Meeting, 11 June 2011, Borovets (Bulgaria)
Stefanov R. Overview of the European activities on rare diseases (presentation). Presented at
Second National Conference for Rare Diseases, 9-11 September 2011, Plovdiv (Bulgaria)
Stefanov R. Overview of the European activities on rare diseases (presentation). Presented at
Rare Diseases Summer School for Health Policy Makers, 11-18 September 2011, Sunny Beach
(Bulgaria)
Stefanov R. Rare diseases in Eastern Europe – from terra incognita to a public health priority
(presentation). Presented at Rare Diseases Summer School for Health Policy Makers, 11-18
September 2011, Sunny Beach (Bulgaria)
Iskrov G. Information Centre for Rare Diseases and Orphan Drugs – projects and plans
(presentation). Presented at Rare Diseases Summer School for Health Policy Makers, 11-18
September 2011, Sunny Beach (Bulgaria)
Iskrov G. Information Centre for Rare Diseases and Orphan Drugs – projects and plans
(presentation). Presented at Third annual seminar for medical student for rare deseases, April
2012, Plovdiv, Bulgaria
Stefanov R. Overview of the European activities on rare diseases (presentation). Presented at
Rare Diseases Summer School for Health Policy Makers, 6-13 April 2012, Halkidiki, Greece
b) 2nd year
Preparation of the project monitoring and evaluation strategy (M15).
c) 3rd Year
Collection of data for the project evaluation and preparation of the EPIRARE project evaluation
Report (Deliverable D10.3)
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4. Work Package 4 (WP4) “Legal basis” The goal of the WP is to assess the ground, contents and most suitable amendments to allow the EU
registration of individual subjects’ health data. It builds upon the results of other European
experiences and addresses the requirements of rare disease research aiming to improve healthcare
and service management.
The work of WP4 is based on the results of the other Work Package works, and on the results of
different European projects on Rare Diseases (i.e. EUROCAT), biobanking (i.e. BBMRI), Public
Health (i.e. PHGEN II), data protection, with the addition of the specific requirements of Rare
Diseases healthcare, management and surveillance.
a) 1st Year
WP4 participated in the preparation of the questionnaire on current and future needs of the existing
registries (prepared by WP8).
WP4 looked at the legal and ethical concerns of patients, at their right to good quality care and
equity set out in the EU Council conclusions on common values and principles in EU health
systems (2/6/2006), and at a high level of health protection as established by the EU Treaties, in
combination with the new grounds offered by the Council Recommendation on Rare Diseases
(2009).
WP 4 assessed the current transposition of the Data Protection Directive (EU Directive 45/96), in
particular the transposition of Art. 8 of the Directive, and consulted EUCERD Member and other
European as well as national policy makers, and 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.
WP4 drafted the 1st draft of the legal report entitled “The Legal and Ethical Framework of EU Rare
Disease Policies. The Right to Health of Rare Disease Patients and the Legislative Framework for
Rare Disease Registries in EU Policy Documents” (Authors: Tobias Schulte in den Bäumen, Peter
Schröder-Bäck)
Participation in the following events to disseminate information on the EPIRARE activities:
Rare Cancers Roundtable 12 March 2012 in Brussels (Statement by Angela Brand)
b) 2nd Year
WP4 drafted the 2nd draft of the legal report entitled “The Legal and Ethical Framework of EU
Rare Disease Policies. The Right to Health of Rare Disease Patients and the Legislative Framework
for Rare Disease Registries in EU Policy Documents” (Authors: David Townend, Tobias Schulte in
den Bäumen, Peter Schröder-Bäck, Manuel Posada and Angela Brand).
WP4 also monitored the progresses in the parliamentary discussion on the draft Regulation on the
General Data Protection and analysed the text of the Parliamentary Rapporteurs providing advice on
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how to reduce the unnecessary impact of new data protection rules on rare disease research and rare
disease patients’ right to care. Therefore, WP4 provided substantial and legally qualified input for
the preparation of a formal request of amendments of the Draft Regulation to the EU Parliament, in
order to preserve the collection and sharing, for health purposes, of scientific data of patients with
rare diseases, at national and international level. (Deliverables 2.3 and 2.4)
WP4 participated in the following events to disseminate information on the EPIRARE activities:
Final Meeting of PHGEN II 18-19 April 2012 in Rome: Presentation by Domenica Taruscio on
RDs and EPIRARE (please, see ppt under annexes), Contribution of EPIRARE to the PHGEN
II “European Best Practice Guidelines on Quality Assurance, Provision and Use of Genome-
based Information and Technologies” (Declaration of Rome, please, see under annexes)
EU Flagship Pilot Project IT Future of Medicine (ITFoM): case study on RDs (Associated
Partner: Domenica Taruscio)
European Science Foundation (ESF) Forward Look on Personalised Medicine: Contribution of
EPIRARE (please, see under annexes invited publication on RDS from Domenica Taruscio)
EUPHA statement with feedback from EPIRARE and EUROCOURSE on the Data Protection
Directive
First International Workshop “Clinical Practice Guidelines on Rare Diseases” in Rome 23-24
February 2012:
o Angela Brand has participated to the Round Table “Future steps for international
collaboration”.
c) 3rd Year
WP4 drafted the final legal report entitled “The Legal and Ethical Framework of EU Rare Disease
Policies. The Right to Health of Rare Disease Patients and the Legislative Framework for Rare
Disease Registries in EU Policy Documents” (Authors: David Townend, Tobias Schulte in den
Bäumen, Peter Schröder-Bäck, Manuel Posada, L. Vittozzi and Angela Brand). (Deliverable 2.1)
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5. Work Package 5 (WP5) “Policy scenarios on the scope, aims, governance and sustainability of registration”
Specific objective of WP5 is to define the scope and a governance model for registries, representing
the interests of relevant stakeholders in strategic decisions. The WP will work in close relation with
EUCERD supporting a working group on "registries and data bases" co-chaired by ISS and
EURORDIS.
The WP5 addressed the scope, aims, governance and ownership of rare disease (RD) patient
registration based on the results of the WP6 and WP8 and gathering the perspectives and
expectations of stakeholders (with a specific focus on RD patients) in order to discuss and develop
possible policy scenarios.
a) 1st Year
WP5 participated in the preparation of the questionnaire on current and future needs of the existing
registries (prepared by WP8) and in the analysis of the EPIRARE Survey results regarding the
survey sections:
Governance
Financial Sustainability
Communication, data access and sharing.
In order to gather the needs and expectations of one of the main stakeholders from registries, WP5
has designed an on line survey specifically targeted to patients. The topics touched by the Patient
Survey, fully overlapped with the topics proposed by the EPIRARE Survey of registry holders, but
the patient survey was much shorter (14 questions, compared with 64 questions of the survey of
registries). The questionnaire was translated into 6 languages: English (EN), French (FR), Italian
(IT), German (DE), Spanish (ES), and Portuguese (PT). The questionnaire can be accessed at:
https://www.surveymonkey.com/s/3KBY96V .
b) 2nd Year
With the aim to gather the perspectives and expectations of stakeholders, WP5 has organized a
Patient Advocates Capacity Building Workshop during the EURORDIS Membership Meeting,
2012 (Brussels, May 23rd). The three hours long workshop was titled “Registries, Biobanks, and
Research: patient contribution to operational models of national and international initiatives”
(moderators: Beatrice de Montleau, AFM-Téléthon and John Dart, Debra International) (Annex
12).
The full program of event and the presentations of the workshops can be found at:
http://www.eurordis.org/content/learning-each-other-eurordis-membership-meeting-2012-brussels.
The workshop was attended by 22 registered patient representatives from 9 different European
countries plus Russia, but the actual audience was finally much more numerous.
The survey on the needs and expectations of patients was launched and data were collected during
the whole year. A preliminary analysis of the data collected until end of September was performed
to be presented in the project meetings.
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The draft deliverable on scope, governance and sustainability of a platform for RD registries has
been presented to the final partner meeting for discussion.
c) 3rd Year
The survey targeted to patients was closed and the results analysed and presented in a Project
deliverable. A booklet (The Voice of Rare Disease Patients) was also printed and distributed at
EURORDIS events (available at: download.eurordis.org.s3.amazonaws.com/the-voice-of-rare-
disease-patients.pdf ; accessed on October 1, 2014).
The deliverable on scope, governance and sustainability of a platform for RD registries was
finalized. (Deliverable 3)
Organization of events
Joint EPIRARE/EUCERD-JA Workshop on RD data collection and European Registry Platform,
Paris (France), 22-23 April 2013
Organization in the EU Parliament, together with WP2, of the “LUNCH DEBATE on Data
Protection: Potential Impact of the Revision of the Current Legislation on Medical Research in the
Rare Diseases Field”. Brussel, 26 September 2013.
Participation in events to disseminate information on the EPIRARE activities
INSERM Workshop #227: Data-sharing in biomedical and health research: legal protection, ethical
issues and governance - March 24-26, 2014 ◘ Bordeaux, France
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6. Work Package 6 (WP6) “Common data set and disease-specific data collection”
Specific objective of WP6 is to define a common data set, which is independent of the registered
rare disease, and 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.
a) 1st Year
WP6 has carried out a statistical analysis of data collected with the EPIRARE Survey and regarding
the questions of interest of WP6.
WP6 carried out a review of the literature on existing and published common data elements of
registries.
b) 2nd Year
A survey of data elements collected by RD registries (Survey on CDE) has been carried out in
collaboration with the EPIRARE Coordinating Team. Data were collected during 1st March 2013 to
15 April 2013.
c) 3rd Year
The data collected with the Survey on CDE were analysed in collaboration with the EPIRARE
Coordinating Team. The final report on the overall results and their bearings on the definition of
common data elements was prepared by the EPIRARE Coordinating Team. WP6 made an in-depth
statistical analysis of the dependence of collected data elements on the general scope of registries,
which is described in a separate report.
Participation in events to disseminate information on the EPIRARE activities
WP6 deliverables and the activities of the EPIRARE project have been discussed with the
participants of some Summer Schools on rare diseases in Rome, Turkey and Russia.
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7. Work Package 7 (WP7) “Data quality, validation and data integration”
Specific objective of WP7 is to define the criteria for a quality assessment of data, data sources and
procedures in the registries, to prepare a quality assurance system.
a) 1st year of activity of the project.
Preparation of the first draft report on quality RD registries, addressed to analysis of the state of art
of quality questions: Rare Diseases Registries: Data quality, validation and data sources integration.
Report based on the literature knowledge
The IIER contributed to the development of the questionnaire used by WP8 to carry out the
EPIRARE survey, which was sent to more than 500 registries all over the world. During this period
we suggested questions regarding quality and validity for our own use as well as other important
questions to be analysed by other Partners. We also promoted the questionnaire among the Spanish
RD registries, which led to Spain being the country with the highest number of responses sent to
this survey.
Dissemination of the survey among Spanish RD registries
b) 2nd year of activity of the project
Analysis of the survey. Contribution to the criteria useful for extracting conclusions: After receiving
questionnaires responses, we proceeded to the data cleaning process and then evaluating the
responses, taking into account the quality of the global answers provided by each individual
registry. We had an important role in the analysis designing and developing of the general survey
and also concentrated our resources in the main tasks of WP7. This work has involved attending
work meetings in Rome, teleconferences, and many contacts through e-mails interchanging ideas
and results.
Contribution to the report of the survey and its dissemination: We have finally contributed to the
survey report by writing and making oral presentations in several meetings but mainly in the past
EPIRARE meeting organized back to back with the ECRD held in Brussels.
Final report on quality RD registries, addressed to analysis of the state of art of quality questions:
Rare Diseases Registries: Data quality, validation and data sources integration. Report based on the
literature knowledge. Dated in April, 2012.
Data protection and petition to the EC: We also contributed to the data protection work package
from the perspective of the epidemiology criteria and the challenges that this new directive could
produce in our topic RD registries. This report was used to the elaboration of the final report of that
petition. (Deliverable 2.2)
Collaboration with other WPs developments: During the second year we contributed to the
development of several WPs but mainly WP8 and the Common Data Elements definition.
First draft report on guidelines for data sources and quality of RD Registries in Europe: section
Quality Criteria - Benefits from the assessment report by the EU Scientific Committees (WP4),
corresponding to deliverable Data Quality, Validation and Data Source Integration in Rare Disease
Registries (WP7).
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c) 3rd year of activity of the project
First draft report on guidelines for data sources and quality of RD Registries in Europe: section
Quality Criteria - Benefits from the assessment report by the EU Scientific Committees (WP4),
corresponding to deliverable Data Quality, Validation and Data Source Integration in Rare Disease
Registries (WP7), date in March, 2013
Draft report on Quality assurance plan for the international Platform for rare diseases registries and
databases.
Receiving questions and comments to these two documents
Final deliverable report on Data Quality, Validation and Data Source Integration in Rare Disease
Registries (WP7), date in Feb, 2014 (Deliverable 4)
Participation in events to disseminate information on the EPIRARE activities
An average of 15 conferences and lectures about rare diseases in Europe were provided by our
Institute of Rare Diseases Research in Spain. In all of these lectures, EPIRARE was introduced to
attendees’ as well main details about progresses and impact to this project in the European policies.
In addition, we are responsible of two rare diseases master courses in Spain where we also
introduced EPIRARE project among pupils.
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8. Work Package 8 (WP8) “Current needs of EU registries on RD and platform facilities serving registries needs”
Specific objective of WP8 is to identify the conditions, expectations and needs of the current
registries and to define the services and contents which help in performing activities of interest of
the platform users.
a) 1st Year
In collaboration with WP5, WP6 and WP7, a draft questionnaire for the survey of the RD registries
situation and needs was developed on the basis of a literature review, and revised after discussion at
the project kick-off meeting. The draft questionnaire was prepared in electronic format and tested
with the collaboration of a few registrars, finalized and made publicly available in the web. The
survey was then launched disseminating the invitations to participate in it to lists of RD registries or
projects available in the web (e.g.: Orphanet, Treat NMD, DGSanco and DGResearch projects,
EURORDIS) and by asking to the CNMR network of contact for further dissemination. The access
to the questionnaire was not restricted to the e-mail addressees nor password-protected.
A meeting with all WP leaders has been organized (Rome, January 23, 2012) to discuss the survey
results and prepare their analysis.
b) 2nd Year
All these activities resulted in the preparation of the first draft report on the survey results aiming at
a descriptive and bivariate analysis of all responses. In the analysis and discussion of the results, a
section is dedicated to the definition of the registry needs, as appearing from the sample studied.
The draft survey report, has been presented and discussed during the EPIRARE meeting held in
Brussels on May 23, 2012. During the Brussels meeting, all WPs presented specific elaborations of
the results regarding the domains in their competence.
The results regarding the registry needs have been the basis, together with a provisional analysis of
the needs of other identified stakeholders of the platform for RD registries and databases to develop
a draft document, circulated to the Advisory Board members for comments, depicting a model for
the Platform of RD Registries, including relevant outputs, useful functions and tools of the
platform.
An early report with all survey replies was fed back to responding registries.
c) 3rd Year
Consultations were carried out among the project partners, advisory board members, the extended
network of additional EPIRARE partners and other stakeholders regarding the deliverables in
preparation. The comments received were assessed and considered for the revision and finalization
of the Report on the Survey of the situation and needs of RD Registries (Deliverable D1.3) and for
the Report on the platform model (Deliverable D5).
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B. Scientific publications resulting from the project. Some results of the EPIRARE project have been or are being published in scientific peer-reviewed
journals. Here is a list of the publications already published or in an advanced stage of preparation.
Domenica Taruscio D, Gainotti S, Vittozzi L, Bianchi F, Ensini M, Posada M. EPIRARE survey on
activities and needs of rare disease registries in the European Union. Orphanet Journal of Rare
Diseases 2012, 7(Suppl 2):A22
Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov
R, Steinmueller C, Swinnen E, Van Oyen H. National Registries of Rare Diseases in Europe: An
Overview of the Current Situation and Experiences. Public Health Genomics. 2014 Sep 9. [Epub
ahead of print]
Vittozzi L, Gainotti S, Mollo E, Donati C, Taruscio D. A model for the European platform for rare
disease registries. Public Health Genomics. 2013;16(6):299-304
Taruscio D, Gainotti S, Mollo E, Vittozzi L, Bianchi F, Ensini M, Posada M. The current situation
and needs of rare disease registries in Europe. Public Health Genomics. 2013;16(6):288-98.
Santoro M, Coi A, Lipucci Di Paola M, Bianucci AM, Gainotti S, Mollo E, Taruscio D, Vittozzi L,
Bianchi F. Characterization and classification of Rare Disease Registries by using exploratory data
analysis. Public Health Genomics. 2014 accepted.
Taruscio D, Mollo E, Gainotti S, Posada M, Bianchi F, Vittozzi L. The EPIRARE Proposal of a Set
of Indicators and Common Data Elements for the European Platform of Rare Disease Registries.
Arch. Public Health. 2014;72:35 doi:10.1186/2049-3258-72-35.
Taruscio D, Mollo E, Rocchetti A, Vittozzi L. Towards a European Platform of Rare Disease
Registries: data elements used by European registries. In preparation.
A draft summary of the deliverable report by WP7 is already on course for publication.
II. Deviations from the initial work program
Due to substantial and unforeseeable changes occurring in the external situation relevant to the
project. Some adaptations were carried out. Indeed, the presentation to the EU Parliament of the
Draft General Data Protection Regulation, rendered most activities, which were planned on the
Directive on Personal data protection, irrelevant. Therefore the activities had to be modified so that
the project could deliver significant results and influence as far as possible the parliamentary
discussion in favor of the needs of RD patients.
Moreover, many member states started to plan their national institutional registry and asked to be
informed and be assisted in sharing information among the national experts involved in these
registries in different countries. Therefore some activities were added to this aim, considering that
this action was in the project objectives and in the interest of the European Commission.
Another new activity was represented by the organization of a scientific workshop. Indeed, the 3rd
project partner meeting was planned to take place in conjunction with a scientific event, in order to
facilitate the dialogue between the registry holders and the project partners at a pre-final stage of
preparation of the deliverables. Since there was no suitable scientific event in the appropriate
period, EPIRARE organized an International Workshop on RD and Orphan Drug Registries in order
18
to allow a live dialogue, beside the consultation by e-mail, between relevant stakeholder groups and
EPIRARE.
Following the lack of reply by the EUCERD committee regarding the establishment of a Working
Group on Registries, and considering the success of the first Workshop, the unspent budget
resulting from the meetings planned and not occurred was used to organize the second International
Workshop on RD and Orphan Drugs Registries to keep the contacts with the registry community, as
well as to organize the Workshop on National Registries of Rare Diseases, where the national
authorities were invite to participate, in order to facilitate the sharing of experiences and to
disseminate the results of the EPIRARE project and to highlight the important role that national
institutional registries may have in supporting or hindering the development of a common EU
framework of RD registration.
Finally, an extension of the original deadline of the project was necessary to support the final
consultation of the main project documents, which were not approved at the last project partner
meeting.
Changes in financial aspects and minor activities, consequent to these changes, which were
communicated timely with two amendments and approved, are described in the amendments
(Annexes 13 and 14).
III. Achievement of the objectives
A. Comparison of planned and actually achieved deliverables and date of delivery
The deliverables originally planned by the project were to result from complex interactions among
different WPs and from different activities. Therefore, in order to simplify the management of their
preparation, it was necessary to let prepare the different contributions as separate documents.
Table 1 shows the relationships between the documents actually produced and the documents with
the title originally planned. Moreover, to facilitate the orientation of the readers across the different
documents, a map showing the relations among all documents was inserted in each document.
In some cases it appeas that the final documents were delivered much later than the planned
deadline. This was due to the fact that the documents were updated following developments in the
situation or due to the need to consider the comments received in the final consultations carried out.
However, draft documents were made available in due time to allow most of the informatin
exchange necessary for coordination among the activities of different WPs.
B. Evaluation report The collection of factual information carried out by WP3 to assess the quality of the activities and
deliverables of the EPIRARE project, also indicate that the project achieved all objectives planned
originally and that all the planned deliverables were produced, met the expectations of the intended
targets and were widely accepted. Detailed information and data on the evaluation of the project
activities and deliverables are reported separately in the Document “Internal Evaluation of the
EPIRARE Project” prepared by WP3.
19
Table 1 – Deliverables of the project activities (from Annex 1 to the Contract agreement and amendments) and actual
achievements of the project.
Original
Delivera
ble
Number
Deliverable Code Planned
date (month from
beginning)
Actual date
of deliverya (month from
beginning)
Deliverable Type
and Planned
Dissemination
Degree of Completion, actual deliverables prepared
and, if necessary, additional Notes
D 1 --- 19 --- --- The current situation, the challenges and the
expectations on Patient registries and Database
This deliverable is represented by the Documents
D1.x, listed here below
D1.1 20101202_D01_01_OTH_EN_PS.pdf
35 Report -
Published in the
web
Completed. The current situation, the challenges and
the expectations on Patient registries and Databases. I -
The current context
D1.2 20101202_D01_02_OTH_EN_PS.pdf
35 Report -
Published in the
web
Completed. The Current Situation, the Challenges and
the Expectations on Patient Registries and Databases.
II - Results of the Patient Survey
D1.3 20101202_D01_03_OTH_EN_PS.pdf
35 Report -
Published in the
web
Completed. The Current Situation, the Challenges and
the Expectations on Patient Registries and Databases.
III - Activities and needs of existing RD registries
D1.4 20101202_D01_04_OTH_EN_PS.pdf
35 Report -
Published in the
web
Completed. Statistical Analysis of the EPIRARE
survey data
D1.5 20101202_D01_05_OTH_EN_PS.pdf
35 Report -
Published in the
web
Completed. Data mining on the EPIRARE survey data
20
D2 --- --- --- Analysis of the draft data protection Regulation and
definition of amendments
This deliverable is represented by the Documents
D2.x, listed here below
D2.1 20101202_D02_01_OTH_EN_PS.pdf
20 35 Report -
Published in the
web
Completed. The Legal and Ethical Framework of EU
Rare Disease Policies - The Right to Health of Rare
Disease Patients and the Legislative Framework for
Rare Disease Registries in EU Policy Documents
D2.2 20101202_D02_02_OTH_EN_PS.pdf
12 12 Report -
Published in the
web
Completed. Epidemiological and public health
considerations for the EPIRARE briefing document on
RD and data protection.
D2.3 20101202_D02_03_OTH_EN_PS.pdf
20 20 Report -
Published in the
web – Distributed
to the MEPs
Completed. PROPOSAL for AMENDMENTS to the
Draft Personal Data Protection Legislation
D2.4 20101202_D02_04_OTH_EN_PS.pdf
20 20 Report -
Published in the
web – Distributed
to MEPs and to
the EU MS
Ministries of
Justice
Completed. BRIEFING PAPER TO THE
EUROPEAN PARLIAMENT
D2.5 20101202_D02_05_OTH_CZ_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in Czech
D2.5 20101202_D02_05_OTH_DE_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in German
D2.5 20101202_D02_05_OTH_EN_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in English
D2.5 20101202_D02_05_OTH_ES_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in Spanish
21
D2.5 20101202_D02_05_OTH_FR_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in French
D2.5 20101202_D02_05_OTH_GR_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in Greeck
D2.5 20101202_D02_05_OTH_HR_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in Croatian
D2.5 20101202_D02_05_OTH_IT_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in Italian
D2.5 20101202_D02_05_OTH_SI_PS.pdf
22 22 Published in the
web
Completed. Petition “Don’t Stop Research on Rare
Diseases!” in Slovenian
D3 20101202_D03_00_OTH_EN_PS.pdf
27 32 Report -
Published in the
web
Completed.
Original title: Possible policy scenarios on Scope,
Common data set, Governance and Sustainability for
RD Patients registration.
New Title: Proposed Aims, Scope, Governance and
Sustainability options for a European Platform for
Rare Disease Registries
D4 20101202_D04_00_OTH_EN_PS.pdf
19 32 Report -
Published in the
web
Completed. Guidelines for data sources and quality
for RD Registries in Europe
D5 20101202_D05_00_OTH_EN_PS.pdf
19 35 Report -
Published in the
web
Completed.
Original title: Identification and characterization of
services and facilities of a European Platform of EU
RD Registries.
New title: Developing a European Platform for Rare
Disease Registries
22
D6 --- --- --- International Workshops on rare diseases and orphan
drugs Registries and databases
This deliverable is represented by the events D6.x,
listed here below
D6.1 20101202_D06_01_OTH_EN_PS.pdf
18 18 Completed. International Workshop RARE DISEASE AND ORPHAN DRUG REGISTRIES, Rome, 8-9 October 2012
D6.2 20101202_D06_02_OTH_EN_PS.pdf
30 31 Completed. International Workshop RARE DISEASE AND ORPHAN DRUG REGISTRIES, Rome, 21-22 October 2012
D6.3 20101202_D06_03_OTH_EN_PS.pdf
35 Completed. EPIRARE Workshop National Registries
of Rare Diseases, Rome 4-5 March 2014
D7 --- 3 --- --- Promotional material website, and activities intended
for dissemination at conferences and distributed to
stakeholders
This deliverable is represented by the products and
events D7.x, listed here below
D7.1 20101202_D07_01_OTH_EN_PS.pdf
3 Completed. Web site (www.epirare.eu)
D7.2 20101202_D07_02_LFT_EN_PS.pdf
3 Completed. Leaflet “EPIRARE”
D7.3 20101202_D07_03_OTH_EN_PS.pdf
30 Conference Completed. European Parliament LUNCH DEBATE
on DATA PROTECTION, Brussels, 26 September
2013 (Agenda)
D7.4 20101202_D07_04_OTH_EN_PS.pdf
Short Report on the European Parliament LUNCH
DEBATE on DATA PROTECTION, Brussels, 26
September 2013
D7.5 20101202_D07_05_OTH_EN_PS.pdf
28 Video –
Published in the
web
Completed. Short Videos in English and subtitles in
French, German, Italian and Spanish (see the links at:
http://www.epirare.eu/video.html)
23
D7.5 20101202_D07_05_OTH_EN_PS.pdf
30 Gadget –
distributed to the
MEPs and EU
MS Ministries of
Justice together
with D2.4
Completed. Personalised pen drive including videos
and proposals for amendments to the draft Data
Protection Regulation distributed with a cover letter
D7.6 20101202_D07_06_LAY_EN_PS.pdf
35 Booklet –
distributed at
patient
conferences
Completed. The Voice of Rare Disease Patients -
Experiences and expectations of over 3000 patients on
Rare Disease Patient Registries in Europe. (Ed.:
EURORDIS)
D8 20101202_D08_00_OTH_EN_PS.pdf
24 25 Conference –
Participants
EPIRARE and
EJA partners
European workshop with stakeholders to discuss the
possible policy scenarios.
Completed. EPIRARE-EJA Workshop, Paris, 22-23
April 2013
D9 --- 19 --- --- Report on common data sets and disease treatment and
other specific modules
This deliverable is represented by the Documents
D9.x, listed here below
9.1 20101202_D09_01_OTH_EN_PS.pdf
35 Report -
Published in the
web
Completed. Common Data Set and disease-, treatment
and other specific modules. I-Report on the survey on
Common Data Elements
9.1.1 20101202_D09_04_OTH_EN_PS.pdf
12 Report -
Published in the
web
Completed. Overview of the scientific literature on
Common Data Elements in the Rare Diseases
Registries setting
9.2 20101202_D09_02_OTH_EN_PS.pdf
35 Report -
Published in the
web
Completed. Statistical Analysis of the EPIRARE
Survey on Registries Data Elements
9.3 20101202_D09_03_OTH_EN_PS.pdf
35 Report -
Published in the web
Completed. Common Data Set and disease-, treatment
and other specific modules. III-Proposal for a Platform set of Common Data Elements
24
D10 --- --- --- Administrative reports
This deliverable is represented by the Reports
D10.x, listed here below
D10.1 20101202_D10_01_IR1_EN_IS.pdf
15 19 Report - sent to
the European
Commission
Completed. Interim Report
D10.2 20101202_D10_02_FFR_EN_IS.pdf
30 40 Completed. Final Report
D10.3 20101202_D10_02_EVR_EN_IS.pdf
30 40 Completed. Evaluation Report
D10.4 20101202_D10_02_SFR_EN_IS.pdf
30 40 Completed. Summary Final Report
a The date of delivery is referred to the final document. Working drafts suitable for the necessary exchanges of information and results across work
packages were made available by the responsible partners.
25
IV. Further considerations
In the light of the request of some national experts, who were involved in the development of
National Registries, for assistance in information sharing on national registries which were being
implemented or planned in Belgium, Bulgaria, France, Germany, Spain and Sweden, it appears that
the lack of reply by EUCERD to the request of establishing a Working Group on Registries lead by
the EPIRARE coordinator, has factually limited the impact of the project and has been detrimental
on the development of a coordinated EU system of RD patient registration.
EPIRARE had to activate a “Working Group on national registries” based on the voluntary
participation of national experts involved in the development of national registries. Such an
initiative allowed the sharing of information among the different initiatives, but could exert no
influence on the national decision processes. As an EUCERD Working Group, based on the
EPIRARE work and funds, as originally planned in the project program, such an initiative would
have been more authoritative to open the discussion among national authorities around a system of
“compatible”, if not coordinated, national registries, which could influence not only the decisions of
the countries already implementing them, but also other countries.
In front of this situation, while recognizing that EUCERD can have its own reasons to make its
decisions, it can be remarked that the EUCERD Joint Action, which leads the Secretariat of
EUCERD, has established a Working Group on Integration of RD initiatives, in which an area is
dedicated to the integration of registry activities, which largely overlaps with the EPIRARE work
plan and which has been set up without the consultation with or the involvement of EPIRARE. On
the other side, this initiative has limited financial and human resources to produce on its own
substantial technical and documentary work in support to its objectives and it, too, is not involving
the national authorities in the discussion regarding the vision for a system of national registries.
Therefore, the final impact of the EPIRARE deliverables should rely on the enhancing effect of a
rapid development of activities regarding the new rare diseases registry platform being developed at
the JRC, Ispra, Italy. Indeed, it is hoped that this undertaking will produce its effects before the
independent establishment of many national registries.