STATE OF PLAY OF REGISTRIES IN EUROPE

Transcription

1 STATE OF PLAY OF REGISTRIES IN EUROPE D. Taruscio, S. Gainotti, L. Vittozzi, F. Bianchi, M. Ensini, Posada Italian National Centre for Rare Diseases - Istituto Superiore di Sanità, Roma (Italy) National Council of Reseach, Pisa (Italy) EURORDIS Istituto de Salud Carlos III, Madrid (Spain)

2 Background More than 500 RD registries in the EU (Orphanet and other sources) No uniform standards for the storing and management of data Registries set up for 20% of rare diseases, more registries for the same RD Need to increase data sharing and exchange Need to harmonise existing regulations (EU, national and regional) The EU Council Recommendation on Rare Diseases (adopted in June 2009) recommends, among other topics, the implementation of registers and databases for epidemiological purposes. Therefore, many initiatives may appear in the coming years.

3 Co-funded by the EU Commission (DG SANCO) Duration: 30 months (April 2011 October 2013) Coordinator of the project: Italian National Centre for Rare Diseases Italian National Institute of Health (Istituto Superiore di Sanità) - Rome, Italy

4 The project is organised in 8 Workpackages WP1 - Coordination of the project WP Leader: Domenica Taruscio National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome (Italy) WP2 - Dissemination of the project WP Leaders: Domenica Taruscio, Fabiola Gnessi National Centre for Rare Diseases, Istituto Superiore di Sanità (Italy) WP3 - Evaluation of the project WP Leaders: Rumen Stefanov Information Centre for Rare Diseases and Orphan Drugs, BAPES (Bulgaria); Franco Cavallo - University of Turin (Italy) WP4 - Legal basis WP Leaders: Angela Brand, David Townend- University of Maastricht (Netherlands)

5 The project is organised in 8 Workpackages WP5 - Policy scenarios on scope, aims, governance and long-term sustainability WP Leader: Yann Le Cam, Monica Ensini - EURORDIS WP6 - Common data set and disease-specific data collection WP Leader: Fabrizio Bianchi - National Council of Research Pisa (Italy) WP7 - Data quality, validation and data sources integration WP Leader: Manuel Posada de la Paz - Istituto de Salud Carlos III (Spain) WP8 - Current needs of existing registries on rare diseases WP Leader: Sabina Gainotti - National Centre for Rare Diseases, Istituto Superiore di Sanità (Italy) Steering Committee \ Advisory Board

6 EPIRARE Objectives General objective To build consensus and synergies to address regulatory, ethical and technical issues associated with the registration of RD patients and to elaborate possible policy scenarios. Specific Objectives To identify the needs of the EU registries and databases on RD To identify key issues to prepare a legal basis To agree on the Register and Platform Scope, Governance and long-term sustainability To agree on a Common data set, disease-specific data collection and data validation To identify tools and other facilities supporting the operation of the platform users

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8 Survey on Activities and needs of RD registries in the EU Selected Results

9 Scope of the survey Aims and scope of existing RD registries Sources, data collected, methodology and quality issues Data protection and ethical issues Governance, communication and data sharing Financial sustainability Needs, expectations, opinions on the platform

10 EPIRARE SURVEY: RESULTS 272 records 254 participants 22 non active registries 233 active registries 220 considered for analysis

11 Geographical coverage and target population

12 Aims of the registry Frequency Percent Valid Percent Natural history of the disease ,4 60,7 Epidemiological research ,4 70,8 Clinical research (patient recruitment for clinical ,9 61,2 trials) Disease surveillance ,4 55,7 Treatment evaluation (efficacy) 94 41,8 42,9 Treatment monitoring (safety) 73 33,1 33,3 Mutation database 94 42,7 42,9 Genotype-phenotype correlation ,1 53,4 Social planning ,2 Healthcare Services planning 74 33,6 33,8 Other (specify): 18 8,1 Total valid ,5 Missing 1 0,5 Total 220

13 Reason for establishment

14 Informed Consent Informed consent ECRD Brussels, 25 May

15 Approval by a Research Ethics Committee Approval by a Research Ethics Committee (REC) ECRD Brussels, 25 May 2012 EPIRARE Meeting, Brussels 23rd May,

16 Main Governing Board ECRD Brussels, 25 May 2012 EPIRARE Meeting, Brussels 23rd May,

17 Members of the Governing Board ECRD Brussels, 25 May 2012 EPIRARE Meeting, Brussels 23rd May,

18 Data sharing ECRD Brussels, 25 May 2012 EPIRARE Meeting, Brussels 23rd May,

19 Initial and current funding Initial funding Current funding Frequency Percent Frequency Percent Valid No specific fund 46 20, ,9 Regional Authority 27 12, ,7 National Authority University/Research Institute 35 15, ,2 Hospital 19 8,6 17 7,7 Patients Association 36 16, ,7 Foundation ,4 Industry/Industrial Association 25 11, ,8 EU Commission/EU Agency ,9 Information not available 6 1,3 4 1,8 Other (specify) 14 6,3 15 6,8 Total valid , ,4 Missing 18 8,1 10 4,5 Total

20 Policies for long term sustainability ECRD Brussels, 25 May 2012 EPIRARE Meeting, Brussels 23rd May,

21 Quality assessment Registry checked for reliability (48,6%) Registry checked for agreement (46,4%) Registry checked for internal validity (58,2%) Quality test/surveys periodically performed (43,6%)

22 Registries main needs Frequenc y Percent Valid Percent Valid Gather financial support ,8 Update your data collection form 80 36,3 40,2 Widen the geographical coverage of the register 51 23,2 25,6 Motivate data providers ,2 52,3 Recruit new data providers 74 33,6 37,2 Assess the quality of your data 92 41,8 46,2 Improve training of the register's staff 26 11,8 13,1 Revise the informed consent form 20 9,1 10,1 Gather expert legal advice 16 7,2 8,0 Establish a more robust system of governance 23 10,4 11,6 Strengthen the relation with patients associations 40 18,2 20,1 Hire new employees 35 15,9 17,6 Gather technical help to refurbish your IT system ,6 Improve the data protection/security system 25 11,3 12,6 Communicate and publicise your results 92 41,8 46,2 Link your register with other registers 72 32,7 36,2 Link your register with biobanks and 49 22,2 24,6 bioinformatics Other (specify): 11 5 Total ,4 Missing System 21 9,5 Total

23 Useful tools Frequency Percent Valid percent Valid IT tools (e.g. Database software and secure data ,3 68,9 exchange), Legal advice 94 42,7 48,0 Model documents (e.g. Informed consent form) 92 41,8 46,9 Expert technical advice 76 34,5 38,8 Quality control systems, quality experts advice, etc ,4 56,6 Tools for networking among partners and among ,9 57,1 registries Facilitated access to useful data sources 87 39,5 44,4 Other (specify): 6 2,7 Total Missing System 24 10,9 Total

24 The EPIRARE Deliverables The current situation, the challenges and the expectations on Patient Registries and Databases Possible policy scenarios on Scope, Common data set, Governance and Sustainability for RD patients registration. Report on Common data sets and disease-, treatment- and other specific modules. Guidelines for data sources and quality of RD Registries in Europe. Identification and characterization of services and facilities of a European Platform of EU RD Registries. Best practice model of a legal instrument for a European Platform of EU RD Registries Scientific secretariat of an EUCERD WG on registries and databases (co-chaired ISS and EURORDIS) European/International Workshop with stakeholders to discuss possible policy scenarios Promotional material, website, and activities intended for dissemination at conferences and distributed to stakeholders

25 EPIRARE MEETINGS DEADLINE FOR ABSTRACTS JULY 31, 2012

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27 For contact: