Aims of the International Workshop

Transcription

1 Aims of the International Workshop Domenica Taruscio National Centre Rare Diseases National Institute for Health Rome - Italy 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

2 Results of EPIRARE project Aims of the International Workshop Presentations by Representatives of the EU Commissions: future steps European Research Infrastructures: gaps and needs for RD Results of the RD Registry Scientific Community: ABSTRACTS: oral presentions + poster sessions EPIRARE Abstract book available online on the web Abstracts will be ublished on the RARE Journal ( General discussions 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

3 Duration: 36 months (15 April April 2014) Coordination D. Taruscio, L. Vittozzi, E. Mollo, S. Gainotti National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome (Italy) WP Leaders F. Bianchi (CNR, Pisa), A. Brand (Maastricht University), Y. Le Cam & M. Ensini (EURORDIS), M. Posada ISCIII, Madrid), R. Stefanov (PABES, Plovdiv), D. Townend (Maastricht University) 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

4 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. 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

5 EPIRARE activities (1) Survey of registries - conditions and needs Survey of registries - Data elements: definitions and formats Survey of patients expectations (EURORDIS) Consultation/survey of industry expectations Informal Consultation/Information of national policy-makers Data quality, validation and data sources integration Review of policy actions and funding initiatives Liaison with US ORDR-NIH and RD-Connect (WP Registries) Liaison with IRDiRC (Scientific Interdisciplinary Committee, WG Registry and natural history) Participation to EUCERD activities 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

6 EPIRARE activities (2): to prepare a legal basis An analysis has been carried out on the current directive on Personal Data Protection and on the draft Regulation discussed in the EU Parliament A document has been prepared on the needs of research and public health for international RD registries A petition, requesting amendments to the draft regulation, has been prepared for the attention of the MEPs, and supporting a request for an audit in the Parliament A video has been prepared on the basis of the petition, to be disseminated via social networks, the web and patients associations and conferences to raise the attention on the impact of the regulation 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

7 Registry Survey VS Patient Survey : Aims of a registry (from EURORDIS) Registry reality Patient expectations 1. Epidemiological research 2. Clinical research 3. Natural history of the disease 4. Disease surveillance 5. Treatment evaluation (efficacy/safety) 6. Genetic mutations database 7. Healthcare/Social Services planning 1. Healthcare/Social Services planning 2. Treatment evaluation (efficacy/safety) 3. Natural history of the disease 4. Epidemiological research 5. Clinical research 6. Disease surveillance 7. Genetic mutations database EUCERD Rare Diseases Registration Workshop, 13th November 2012, Luxembourg

8 Main issues identified Data quality and reliability 40% registries have no quality control procedures (data entry) Communication 70% with data sources, hospitals, centres of expertise 34% with policy makers 56-77% direct contact, scientific meetings, websites, publications Networking 40% registries do not collaborate with other registries nor with biobanks 60% registries do not make available data to third parties Standardization More than 8 disease coding systems: the most used is used by 25% registries 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

9 The EPIRARE Platform concept Institutions Industry data Clinicians, Researchers Patients, public 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

10 EPIRARE MEETINGS and WORKSHOPS Third EPIRARE Meeting April, Rome EUCERD/EPIRARE April, 2013 EURORDIS 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

11 EPIRARE MEETINGS EPIRARE April, 2013 Rome EUCERD/EPIRARE April, 2013 EJA WG Integration - Luxembourg, 13 November 2012

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13 Welcome to the EPIRARE Community / Network 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

14 EPIRARE Community /Netwok Extended EPIRARE network a number of experts, Institutions, Patients Associations and organizations have been included in the EPIRARE partnership and participate in consultations at appropriate steps of preparation of documents EUCERD Members and other experts Collaboration with IRDiRC, RD-Connect, EUROPLAN, EUCERD Joint Action 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

15 Co-operation at international level to stimulate, better coordinate & maximise output of rare disease research efforts around the world 15

16 nyul/fotolia.com Yuri Arcurs/Fotolia.com IRDiRC vision and 2020 goals in rare diseases research 200 New Therapies Means to Diagnose Most Rare Diseases 16

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18 IRDiRC Executive: 32 committed members EUROPE (14) E-RARE Consortium (EU) European Commission (EU) EURORDIS (EU) French Association against Myopathies (FR) French National Research Agency (FR) German Federal Ministry of Education and research (DE) Italian Instituto Superiore di Sanità (IT) Italian Telethon Foundation (IT) Lysogene (FR) Netherlands Organisation for Health Research & Development (NL) Prosensa (NL) Shire (IE) Spanish Carlos III Health Institute (ES) UK National Institute for Health Research (UK) NORTH AMERICA (16) Canadian Institutes for Health Research (CA) FDA Orphan Products Grants Program (US) Genome Canada (CA) Genetic Alliance (US) Mendelian Disorders Genome Centres (US) National Centre for Translational Therapeutics (US) National Cancer Institute (US) National Institute of Neurological Disorders and Stroke (US) National Institute of Arthritis and Musculoskeletal and Skin Diseases (US) National Institute of Child Health and Human Development (US) National Eye Institute (US) NORD (US) NTK Therapeutics (US) Office of Rare Diseases (US) Sanford Research (US) PTC Therapeutics (US) AUSTRALIA Western Australian Department of Health CHINA Beijing Genomics Institute (BGI)

19 IRDiRC Governance Structure Executive Committee Chair Paul Lasko Scientific Committees Diagnostics Chair Kym Boycott Interdisciplinary Chair Hanns Lochmüller Therapies Chair Josep Torrent-Farnell Working Groups Ontologies, disease prioritisation Sequencing Ethics and governance Registries and natural history D.Taruscio, L.Donohue Biomarkers Repurposing, small molecules Model systems Genome / Phenome Biobanks Bioinformatics, data sharing Advanced therapies Regulatory aspects / Bottlenecks

20 RD-CONNECT: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research (Hanns Lochmüller, Newcastle University, UK)

21 Workpackage overview WP1: Coordination WP2: Patient registries WP3: Biobanks WP4: Bioinformatics Hanns Lochmüller Newcastle and TREAT-NMD Domenica Taruscio ISS and EPIRARE WP5: Unified platform Lucia Monaco Fondaz. Telethon & EuroBioBank WP6 Ethical/legal/social Christophe Béroud INSERM Marseille WP7: Impact and innovation Ivo Gut CNAG Barcelona Mats Hansson Uppsala Kate Bushby Newcastle and EUCERD/ EJARD

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23 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

24 Thank you for your attention! Domenica Taruscio 2 nd International Workshop Rare Disease and Orphan Drug Registries Roma, October 2013.

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26 IRDiRC the International Rare Disease Research Consortium Harmonised research funding initiative launched by the European Union and US NIH other countries invited to join Goals: Diagnosis for all rare diseases and 200 new therapies for RD by 2020 Governed by Executive Committee made up of representatives from each member organisation Now has 32 committed members from Australia, Canada, China, European Union, France, Germany, Ireland, Italy, Netherlands, Spain, UK, USA (+ others joining) Each member commits to spending min. 10 million USD over 5 years on research projects contributing to IRDiRC objectives Scientific input via 3 scientific committees (diagnostics, therapies, and interdisciplinary) and working groups consisting of experts from funded projects

27 IRDiRC basic principles Teams up public and private organisations investing in rare diseases research Research funders with relevant programmes >$10 million US over a 5-year period can join Small funders may form a group of funders Each organisation funds research its own way Funded projects adhere to a common framework 28

28 IRDiRC policies and guidelines IRDiRC Science Committees drafted, IRDiRC Executive Committee ratified its policy document in April 2013 All IRDiRC projects must abide by the policies and guidelines it sets out Includes policies on data sharing, publication of results, inclusion of patients, registries, biobanks November 2013

29 IRDiRC policies and guidelines RD research should be collaborative. Resources, data and results should be shared among IRDiRC research projects and made publicly available to the broader community, and duplication should be avoided. Ultimately, it is critical to the overall success of IRDiRC that datasets obtained from one project will be directly comparable to datasets obtained from another project (even if generated using a different approach or technology). Data producers acknowledge their responsibilities to release data rapidly and to publish initial analyses in a timely manner. IRDiRC members will encourage and facilitate rapid data release. Data generated from research projects, including source data, should be deposited in appropriate open or controlled access public databases. 04 November 2013

30 IRDiRC policies and guidelines RD patient registries should aim to be global in geographic scope and practice. Interoperability and harmonization between RD patient registries should be consistently pursued. Linking and data transfer into existing platforms should be considered best practice. Registries should be broad and not focused exclusively around a single therapeutic intervention or product. RD patient registries should be linked with data and biological specimens in biobanks, natural history studies and clinical trials RD biobanks should aim to be global in geographic scope and practice. Interoperability and harmonization between RD biobanks should be consistently pursued. Linking and data transfer into existing platforms should be considered best practice. Sharing and distributing of biomaterials among RD biobanks is highly encouraged. Research projects should publish their results in a timely manner in peer-reviewed scientific journals, preferably with open access. RD research should be published even where its outcomes are negative or do not show convincing results, including clinical trials 04 November 2013

31 RD-Connect objectives Overarching objectives: Contribution to the IRDiRC objectives of delivering 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020 Development of an integrated, quality-assured and comprehensive hub/platform in which complete clinical profiles are combined with - omics data and sample availability for rare disease research, in particular IRDiRC-funded research.

32 RD-Connect objectives Harmonisation and development of common standards for databases and patient registries for rare diseases by collaborating internationally to implement common registry infrastructure and data elements across a federated system. Harmonisation and development of common standards and a common catalogue for rare disease biobanks that collect and provide standardised, quality-controlled biomaterials for translational research. Development of a suite of clinical bioinformatics tools, including data mining and knowledge discovery tools for analysis and integration of molecular and clinical data to discover new disease genes, pathways and therapeutic targets. 33

33 RD-Connect objectives Development of an integrated platform to host the processed data from Neuromics, EuRenOmics and future IRDiRC projects. Development of best ethical practices for balancing patient-related interests associated with rare disease research using databases/registries, biobanks and omics databases, engaging with relevant stakeholders, including patient organisations, clinical and research networks, legislators and policymakers and the pharmaceutical industry Development of a proposal for an expedient regulatory framework for linking of medical and personal data related to rare disease on a European and global level. Ensuring access to project results and broad and global impact in science, diagnostics and translational research including industrial collaborations. 34