Fit4RareFit4All Conference Cluj - Napoca 3-4 September 2017

Transcription

1 Fit4RareFit4All Conference Cluj - Napoca 3-4 September 2017 Rare diseases registries as key tools in research and public health Domenica Taruscio Director, National Centre for Rare Diseases Istituto Superiore di Sanità Rome (Italy)

2 Registries are important tools for research and public health: why? health Natural history of the disease Epidemiological research Clinical research (patient recruitment for clinical trials) Disease surveillance Treatment evaluation (efficacy) Treatment monitoring (safety) Genotype-phenotype correlation Social planning Healthcare Services planning..

3 Definition of a patient registry A patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. Richard E Gliklich & Nancy A Dreyer, 2014

4 Specific objectives of rare disease registries To connect patients, families, and clinicians. To describe and study the natural history, evolution, risk, and outcomes of specific diseases. To support research on genetic, molecular, and physiological basis of rare diseases. To establish a patient base for evaluating drugs, medical devices, and orphan products. To determine clinical effectiveness or cost-effectiveness of health care products and services To measure or monitor safety and harm, and/or to measure quality of care. Richard E Gliklich & Nancy A Dreyer, 2014

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7 National Centre for Rare Diseases Istituto Superiore di Sanità (Rome, Italy)

8 AREAS OF THE COUNCIL RECOMMENDATION 7. SUSTAINABILITY 6. EMPOWERMENT OF PATIENT ORGANISATIONS 5. GATHERING THE EXPERTISE ON RARE DISEASES AT EUROPEAN LEVEL 4. CENTRES OF EXPERTISE AND EUROPEAN REFERENCE NETWORKS FOR RARE DISEASES 3. RESEARCH ON RARE DISEASES 2. ADEQUATE DEFINITION, CODIFICATION AND INVENTORYING 1. PLANS AND STRATEGIES IN THE FIELD OF RARE DISEASES

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13 coordinated by the Italian Centre for Rare Diseases, Istituto Superiore di Sanità (Rome, Italy) three-year project co-funded by the EU Commission ( ) Interoperability

14 RD-Connect An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research Main objective: Development of an integrated, quality-assured and comprehensive platform in which complete clinical profiles are combined with -omics data and sample availability for rare disease research. Registry Biobank Registry Natural history DATA SHARING Biomarker study Other activities WP2: Databases and patient registries Harmonise and standardise databases and patient registries for RD by collaborating internationally to implement common registry infrastructure and data elements across a federated system. Collect and provide accurate, quality controlled patient data for natural history studies, identification of study participants and pharmacovigilance. Provide well characterised and stratified patient cohorts for personalised therapies and translational research, in particular -omics research.

15 Task force: Privacy-preserving record linkage Development of mechanisms to enable linkage of records belonging to the same individual to enable research data sharing across multiple projects and institutions Product: Guidelines on the technical and ethical-legal requirements of patient identifiers in Rare Disease Research; recommendations for the most practical, streamlined and minimalistic approach that maximises uptake whilst complying with relevant legal regulations. Joint IRDiRC-GA4GH collaboration

16 Task force: Automatable Discovery and Access Associate clinical data with the scope of consent given for use of that data Develop standardized and computer-readable data use types for use in consent forms Product: The Automatable Discovery and Access Matrix (ADA- M) provides a standardized way to unambiguously represent consent and other conditions of use, making such information computer-readable and hence directly available for digital communication, searching and automation activities. Joint IRDiRC-GA4GH collaboration

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20 International Summer School on RD and Orphan Drug Registries Once a year, since 2013, the National Centre for Rare Diseases organizes the International Summer School on Rare Disease and Orphan Drug Registries. 1st International Summer School on Rare Disease and Orphan Drug Registries September 16-20, nd International Summer School on Rare Disease and Orphan Drug Registries September 15-19, rd International Summer School on Rare Disease and Orphan Drug Registries September 21-23, th International Summer School on Rare Disease and Orphan Drug Registries September 26-28, th International Summer School on Rare Disease and Orphan Drug Registries September 18-22, 2017

21 REGULATORY FRAMEWORK: MINISTERIAL DECREE 18 May 2001, n. 279 Italian National Network for the prevention, surveillance, diagnosis and treatment of rare diseases and the exemption from patients participation in the costs of the relevant healthcare Gazzetta Ufficiale della Repubblica Italiana, 2001

22 REGULATORY FRAMEWORK: MINISTERIAL DECREE 18 May 2001, n. 279 National Network: THE MINISTERIAL DECREE 18 MAY 2001, n. 279: - Centres for diagnosis and treament of RD (identified by Regions); Regional and Interregional Coordination Centres Establishes the National Register of Rare Diseases at the Istituto Superiore di Sanità (Rome) Regulates the exemption from patients participation to the costs for diagnosis and treatment of rare diseases, listed in the Annex of the decree (284 diseases and 47 rare diseases group; 331 code which include a larger number of rare diseases).

23 National Registry of Rare Diseases (RNMR) Ministerial Decree 2001, no. 279 Aims and objectives indicated in the Article 3 Aims : planning and evaluating National and regional health care programmes; diseases surveillance. research in epidemiology, medical and biomedical fields Expected activities : Collection of patient information, medical history, clinical, instrumental, laboratory data, related to risk factors, lifestyles of patients with rare diseases validation, statistical and epidemiological analysis, assessment of associations between risk factors and lifestyle related to the etiology and prognosis Expected data flow: functional connection with regional / interregional registers and international registers

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25 Coming soon Data of years

26 Contents of the National Registry of Rare Diseases December 31 th, single rare diseases 47 groups of rare diseases (e.g. lisosomial diseases) 228 centers of expertise Analysis of rare diseases reported subset of diseases record

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28 Health Service Planning: cases grouped by ERN Records (N)

29 National Network of Rare Disease NATIONAL REGISTRY, DISEASE SPECIFIC REGISTRIES, REGISTRARE RNMR CNMR Regional Registries Accredited RD Centres Registries disease specific NHS Centres Other experts RegistRARE Patient Associations

30 Specific RD registries Gaucher disease Cystic fibrosis (RIFC) Paroxysmal nocturnal hemoglobinuria Lesch-Nyhan syndrome Combined immunodeficiency disease (CID) and undefined PID Registry

31 RegistRARE Approach to Patient Registries Collected data Minimum Data Set (RNMR) Common Data Sets (EPIRARE: Specific Data Set (according to registry scope) Primary sources: Inclusive network of collaborating Centres Web Platform for data collection and personal data protection Collaboration agreement and Operation Rules: Aims Governance: Scientific and Steering Committee: Clinicians, Patients and CNMR (Epidemiologists, statisticians Data use and accessibility Privacy

32 How we spread the information National Helpline for Rare Diseases and Orphan Drugs (since 2008) MAIN OBJECTIVE To inform patients, health and social operators on: - rare diseases and orphan drugs - centres for prevention, diagnosis, treatment and surveillance (present at regional, national and international level)

33 Registries set up for 20% of rare diseases Lack of standards (e.g. quality assurance ) GAPS, BARRIERS Lack of financial support (sustainability ) Updating Legal advice Different regulations (EU, National & Regional) Expert technical advice Difficulties for data sharing Interoperability

34 A new perspective for rare disease registries A transition from spontaneous registries, disconnected, with difficult sustainability and often competing for funds towards a sustainable system which reduces costs by providing tools and resources, promotes interoperability, and ensures the use of the results and communication to the interested stakeholders.

35 Thanks for your attention

36 Data Validity Checks Data are checked for their validity making reference to a set of criteria which control: Range and values of measures (e.g.: diagnosis date within the reference period) Consistency across values of different but related variables (e.g: date of birth < date of onset < date of diagnosis < date of death) Diseases and centre denominations are standardized according to reference lists and codes Replicated records are checked and managed, according to an algorithm, depending on the scope of analysis.