Brussels, 23 May 2012Madrid, March 4-5, 2013 Domenica Taruscio Director National Center for Rare Diseases Istituto Superiore di Sanità Rome (Italy) [email protected]

Brussels, 23 May 2012Madrid, March 4-5, 2013

Domenica TaruscioDirector

National Center for Rare DiseasesIstituto Superiore di Sanità

Rome (Italy)

[email protected]

Taruscio


NEPHIRD co-funded by DG SANCO( 2001 – 2004)


EPIRARE www.epirare.eu

Co-funded by the EU Commission (DG SANCO)

Duration: 30 months (April 2011 – October 2013)

Coordination of the projectNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome (Italy)

EvaluationWP Leaders: Rumen Stefanov Information Centre for Rare Diseases and Orphan Drugs, BAPES (Bulgaria); Franco Cavallo - University of Turin (Italy)


The project core Workpackages

WP4 - Legal basis WP Leaders: Angela Brand, David Townend- University of Maastricht (Netherlands)

WP5 - Policy scenarios on scope, aims, governance and long-term sustainabilityWP Leader: Yann Le Cam, Monica Ensini - EURORDIS

WP6 - Common data set and disease-specific data collectionWP Leader: Fabrizio Bianchi - National Council of Research Pisa (Italy)

WP7 - Data quality, validation and data sources integrationWP Leader: Manuel Posada de la Paz - Istituto de Salud Carlos III (Spain)

WP8 - Current needs of existing registries on rare diseasesWP Leader: Sabina Gainotti - National Centre for Rare Diseases, Istituto Superiore di Sanità (Italy)


Background

More than 600 rare disease registries (Orphanet and other sources)

No uniform standards for the storing and management of data Registries set up for 20% of rare diseases, often more registries for

the same disease

Need to increase data quality, data sharing and exchange

Need to harmonise existing regulations (EU, national and regional)

Interoperability


Activities funded by the EU

There are a number of projects (around 60) based on networks of researchers and clinicians to foster research and healthcare on a single rare disease or on a group of related rare diseases

EPIRARE project (April 2011-October 2013),aims at building consensus and synergies for the development of a EU platform for rare disease registries. The Cross Border PAtient Registries iNiTiative (PARENT Joint Action), started in 2012 and aims to assist in the establishment of registries to enable the analysis of secondary data for public health and research purposes

RD-Connect project is aiming at establishing an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research (Specific WP on database and registries).


EPIRARE ObjectivesGeneral 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 1. To identify the needs of the EU registries and

databases on RD2. To identify key issues to prepare a legal basis3. To agree on the Platform Scope, Governance and

long-term sustainability4. To agree on a Common data set, disease-specific

data collection and data validation5. To identify tools and other facilities supporting

the operation of platform users


www.epirare.eu


A structured network of relations - I

Extended EPIRARE network: a number of Institutions, Associations, organizations and experts have been included in the EPIRARE partnership; they participate in consultations at appropriate steps of preparation of documents

Updated list of existing / active registries in EU 1st International Workshop on RD and OD

Registries (Rome, Oct 8-9, 2012; Scientific Committee members and participants)

Advisory Board (EUCERD members and other experts)

EPIRARE WG on on-going national registry initiatives

Relations with and collaboration in other EU Projects (EUCERD-Joint Action, RD-Connect, IRDiRC, EUROPLAN, PARENT Joint Action, EUROCAT Joint Action)


• Survey on the features and needs of existing registries

• Survey on the expectations and views of patients on registration

• Survey of the features of the national registries being planned or reviewed in the participating countries plus GRDR.

• Survey on the feasibility of the “EPIRARE” Common Data Elements : on-going

Activities carried out

Sabina Gainotti et al.EPIRARE WP8 Leader


Scope of the survey among registry holders

• 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

We collected information from 220 different registries:I will show some results


Type of registries in the EPIRARE survey

History of disease

Epidemiological research

Clinical research

Disease suveillance

Treatment evaluation

Geno-pheno/Mutation

Treatment monitoring

Social planningHealth service planning

Case-based

Hospital-based

Population-based

a group of RDs

all/several RDs

one RD

Bianchi et al.EPIRARE WP6 Leader

Data made available to:

Anonymous De-identified Identifiable Total

Public Authorities 43 (53,7%) 8(10%) 5(6,2%) 51(63,7%)

Public Institutions 46 (57,5%) 13(16,2%) 5(6,2%) 60(75%)

Private institutions/citizens 24(30%) 5(6,2%) 1(1,2%) 30(37,5%)

Companies/Industries 25(31,2%) 8(10%) 3(3,7%) 33(41,2%)

Patients Associations 37(46,2%) 6(7,5%) 1(1,2%) 41(51,2%)

Other (specify) 17(21,2%)

Frequency Percent Valid Percent

Other registries 101 45,9 51.0

Biobanks 32 14,5 16.2

Centres of expertise 67 30,4 33.8

None of them 59 26,8 29.8

Other (specify): 17 7,7

Valid

Total valid 198 90

Missing System 22 10

Total 220

Data sharing:

Current funding: Frequency Percent Valid

Percent

No specific funds 57 25,9 28,4 Regional Authority 28 12,7 13,9 National Authority 55 25 27,4 University/Research Institute 27 12,2 13,4 Hospital 17 7,7 8,5 Patients Association 28 12,7 13,9 Foundation 23 10,4 11,4 Industry/Industrial Association 26 11,8 12,9 EU Commission/ EU Agency 13 5,9 6,5 Information not available 4 1,8 2,0 Other (specify): 15 6,8

Valid

Total valid 210 95,4 Missing System 10 4,5 Total 220


Specific Objectives (SO) 1: Identify the needs

A survey among registry holders: 220 filled questionnaires complying with acceptability criteria

A survey among patients: more than 2000 fully filled questionnaires up to 8 (still on going)

A consultation of other stakeholders (12/11-14/12/2012): EUCERD members; EBE-EUROPABIO WG on Registries; EU Institutions; EMA; EPIRARE extended network

Report on the current status of RD Registries and their needs

Report on the patients’ expectations and needs

Report on “Developing a European Platform for Rare Disease Registries”


SO 2: prepare a legal basis

An analysis has been carried out on the current Directive on Personal Data Protection and

on the draft Regulation being discussed in the EU Parliament

A document has been prepared on the needs of research and public health for international RD registries

A video is being prepared on the basis of the petition, to be disseminated via social networks, the web, patients associations and conferences to raise the attention on the impact of the regulation

An agreed document, requesting amendments to the draft regulation, is being prepared for the attention of the MEPs, and supporting a request for an audit in the EU Parliament

Brussels, 23 May 2012

The Briefing Paper to the EU Parliament

David Townend (WP4 Legal Basis): The Legal and Ethical Framework of EU Rare DiseasePolicies - The Right to Health of Rare Disease Patients and the LegislativeFramework for Rare Disease Registries in EU Policy Documents

Draft Briefing Paper - Data Protection Regulation (EC 25-01-2012 Version)

Manuel Posada (WP7 Data quality, validation and data sources integration):Draft Briefing paper- Epidemiological and public health considerations

Messages for a 30sec-1min video supporting registration and asking for amendments to the regulationTarget: the MEPs; clinicians; patientsChannel: hearing; social networks; web; meetings

Messages for a 2-3 page document asking for amendments to the EU RegulationTarget: MEPsChannel: hearing

To MEPs, Ministries of Justice: Link on the EPIRARE website; please sign and spread the word


SO 3: Scope, Governance and long-term sustainability

Collaboration with EUCERD and EUCERD JA WG Integration

European Reference Networks (Cross-Border Health Care Directive)

Cooperation (WG) with on-going national registry initiatives

Report on “Developing a European Platform for Rare Disease Registries”(advanced draft)Identification of main scenarios, stakeholders, model, scope and purposes of the platform

Report on “Scenarios, scope and governance” (draft)


SO 4: Common data set, disease-specific data collection

A second round of the survey among EU registries holders

A survey among on-going national registry initiatives

Analysis of stakeholders and their needs

Definitions of the platform outputs

Provisional definition of • A Minimum Set of Common Data Elements• A few Purpose-Specific Sets of Common Data Elements• Further Project - Specific Set of Data Elements

Comparison of top-down with bottom-up approach

Evidence-based definition of model reference purposes of registries


SO 4: data validation

Survey among EU registries holders

Literature survey

Document on a System of Data Quality Assurance


SO 5: identify tools and other facilities

Analysis of the context (policies and initiatives) and identification of stakeholders

Analysis of stakeholders, their needs and supporting roles

Report on “Developing a European Platform for Rare Disease Registries” (advanced draft)Definition of platform model, outputs and services (tools and facilities)


We identified with the EPIRARE survey several types of registries:

• health service assessment and planning; • natural history of the disease; • genotype-phenotype correlation studies;• safety and effectiveness assessment of orphan medicinal products

(OMP).

Further “model” purposes being considered by EPIRARE:• Patient care benchmarking• assessment of disease costs (hospitalization, treatment costs, social

support, social costs)• monitoring of screening programs

Model urposes of registries


Minimum Set of Common Data Elements: which allows basic functions of the Platform data repository

Purpose-Specific Set of Common Data Elements: a set of CEs, which is considered necessary for the platform to achieve one of its pre-defined purpose-related outputs.

Project-Specific Data Element Set: to achieve a specific aim of a time-limited study project. The definitions are agreed among the registries and databases collaborating in the study.

The Concept of the EPIRARE Platform Common Data Sets

EJA WG Integration - Luxembourg, 13 November 2012

EPIRARE Platform components and communication model

Components:• a data repository, with a separate section to support ad hoc collaborative projects; • a component of tools and resources of use to registries; • a component of predefined outputs for the funding organizations and the public; • a component for the promotion of registration and networking among patients.

External Quality Assurance System (EQAS)

Model:Participation in the platform is granted to registries and databases complying with data quality criteria.

The registries and databases participating in the platform communicate data of specified sets of common data elements (SCE) to the platform data repository, have conditional access to it and get tools and resources for their operation and sustainability. Moreover, the platform facilitates access to - or can make ad hoc data extractions of - registry specific data.

Multiple data sources


EPIRARE MEETINGS

2 International Workshop RARE DISEASE ANDORPHAN DRUG REGISTRIES

21-22 October, 2013Rome

International Summer School

RARE DISEASE AND

ORPHAN DRUG REGISTRIES

organized by

NATIONAL CENTRE FOR RARE DISEASES

ITALIAN NATIONAL INSTITUTE OF HEALTH

Rome (Italy)

16 - 20 SEPTEMBER 2013

WP 2Rare disease

databases/patient registries

Kick-off meeting, Sitges, Barcelona, 25th – 27th January 2013

WP LeaderDomenica TARUSCIO


Thanks for your attention

Visit our web site at: www.epirare.eu or write to us at: [email protected]

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