Final Report on the implementation of the project activities · preliminary meeting with a...

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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.

http://www.change.org/p/don-t-stop-research-on-rare-diseases-2

http://www.change.org/p/don-t-stop-research-on-rare-diseases-2

http://www.epirare.eu/petition.html

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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.


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)


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)

http://www.epirare.eu/video.html

https://twitter.com/EPIRARE

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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)


Second National Conference for Rare Diseases, 9-11 September 2011, Plovdiv (Bulgaria)


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


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.

https://www.surveymonkey.com/s/3KBY96V

http://www.eurordis.org/content/learning-each-other-eurordis-membership-meeting-2012-brussels

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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.


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)


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



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


web


Diseases!” in German

D2.5 20101202_D02_05_OTH_EN_PS.pdf


web


Diseases!” in English

D2.5 20101202_D02_05_OTH_ES_PS.pdf


web


Diseases!” in Spanish

21

D2.5 20101202_D02_05_OTH_FR_PS.pdf


web


Diseases!” in French

D2.5 20101202_D02_05_OTH_GR_PS.pdf


web


Diseases!” in Greeck

D2.5 20101202_D02_05_OTH_HR_PS.pdf


web


Diseases!” in Croatian

D2.5 20101202_D02_05_OTH_IT_PS.pdf


web


Diseases!” in Italian

D2.5 20101202_D02_05_OTH_SI_PS.pdf


web


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



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


D10.1 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.

Final Report on the implementation of the project activities · preliminary meeting with a...

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