The French National Rare Diseases Registries BNDMR-BaMaRa and RaDiCo

Transcription

1 The French National Rare Diseases Registries BNDMR-BaMaRa and RaDiCo Pr Paul Landais Montpellier 1 University, EA 2415, Faculty of Medecine Nîmes University Hospital, France National Databank for RaRe Diseases Rare Diseases Cohorts October 21-22, 2013, Roma

2 BNDMR BaMaRa and RaDiCo National Databank for Rare Diseases (BNDMR) Banque Nationale de Données Maladies Rares (BaMaRa) Ministry of Health: E Luigi, D Peton-Klein, M Eliaszewicz, V Drouvot National coordinator: P Landais Project Manager: R Choquet RaDiCo (Rare Diseases Cohorts) Research National Agency, INSERM National coordinator: S Amselem, National co-coordinators: A Clement, P Landais Scientific and operational director: J Weinbach

3 Outline The patients and their families The RD plan «PNMR2» The clinical network BaMaRa and the RD Cohorts The Foundation for Rare Diseases

4 Patients The centre of gravity of the registries is: the patients and their families Presenting with a multiplicity of diseases, phenomes and genomes Geographically distributed on the whole territory Requiring to adapt the offer of care

5 The RD national plans

6 Council Recommendations for RD (2009) I. Set up plans and strategies in the field of rare diseases II. Give adequate definition, codification and inventory of RD III. Identify and foster RD research. IV. Develop centres of expertise and European reference networks. V. Gather the expertise on RD at European level: share best practices, develop medical training relevant to diagnosis and management of RD, coordinate European guidelines, minimize the delay in access to orphan drugs. VI. Empower patient organizations: consult patient representatives on policy development; facilitate patient access to updated information on rare diseases; promote patient organization activities. VII. Make information, research and healthcare infrastructures sustainable. Source:

7 French RD plans and other initiatives towards RD in Europe Source:

8 Stages of development of national plans or strategies for rare diseases in EU MS (December 2012) Source:

9 Axis A of the PNMR 2: creation of the National Data Bank for Rare Diseases (BNDMR) A public health objective Describe the demand of care for RD Describe the offer of care and assess its adequation with the corresponding demand, Identify patients eligible for clinical trials of a new orphan drug or new medical device Identify patients eligible for RD cohorts

10 BNDMR: means Define a minimal common data set established with the RDRC, Share a common nomenclature: Orphanet, Take into account the recommendations of the EUCERD, the work of the Office of Rare Diseases Research / NIH and EPIRARE. Define a format for data export in order to allow feeding the national data base. Take into account the recommendations of the «Rare Disease Task Force» of the DG SANCO.

11 Interoperability Define a policy for data collection, with all the stakeholders and a steering committee. Create a methodological structure to pilot the implementation of the national data base. Evolve towards an interoperability of the information systems.

12 A network for RD patients care in France 23 Groups centres of expertise (COE) COE1 COE2 COE3 COE4 COE5 COE6 COE7 COE8 COE9 COE10 COE11 COE COE COE COE COE reference centres 501 competence centres 54 laboratories of molecular diagnosis Centres for biological resources and research laboratories RD registries Ongoing research programs 49 ANR ; 158 PHRC 227 clinical trials (106 academic, 121 industry)

13 Axis B of the PNMR 2 : Promote RD research

14 A shared information system Program Context Ministry Gestion Objective Coordinator Budget BaMaRa RD National Plan 2 Ministry of Health DGOS -> APHP Public Health P. Landais 0,5M /y/5 years RaDiCo Investment for the future Ministry of Research Inserm Research S.Amselem, A.Clement, P. Landais 0,95M /y/10 years Combined means Shared resources, competences, know-how Joint Information System I S y - r a r e

15 The stakes of RaDiCo, Better care patients and their families presenting a rare disease; Better understand the pathophysiological underlying mechanisms (variability/complexity of their expression); Invest the challenge of «Phenomics»; Characterize and annotate the phenotype (clinically, biologically, images, pathology, «omics», ) Better explore the links between genotype and phenotype.

16 The needs of the French RD reference centers

17 Domains, systems and objectives Objectives Public Health Epidemiology Patient Care Phenomics new Orphan Drugs Systems Registries Electronic Health Records Cohorts Clinical Trials domains Epidemiology Care Research Source: Choquet R, Landais P, BaMaRa 2013

18 Integrating needs, objectives and resources PNMR2 Objectives Needs Data to collect Data sources Aid to RD care organization Support RD Clinical trials Develop RD cohorts Describe RD care demand and offer of care Identify eligible patients Explore phenotypes to genotypes correlation Patient, diagnosis, diseases,.. Restricted characteristics for eligibility Extensive data for phenotypical purposes Centres of expertise BaMaRa RaDiCo

19 The French experience: a shared information system BaMaRa Public health A Minimum data set for all patients Cross sectional RaDiCo Research Phenomics Cohorts for a single disease or groups of diseases Extensive longitudinal data collection 23 Groups; Care pathways 131 centres of expertise COE1 COE2 COE3 COE4 COE5 COE6 COE7 COE8 COE9 COE10 COE11 COE COE COE COE COE131 t0 t1 t2 t3 t4 t0 t1 t2 t3 t4 t5 t6 t0 t1 t2 t3 t4 t5 t6 t0 t1 t2 t3 t4 t5 t0 t1 t2 t3 t4 t5 t6 Amselem S, Clement A, Landais P, 2013

20 The stake of interoperability Objectives Public Health Epidemiology Patient Care Phenomics new Orphan Drugs Systems Registries Electronic Health Records Cohorts Clinical Trials Systems and data Interoperability domains Epidemiology Care Research Source: Choquet R, Landais P, BaMaRa 2013

21 An integrated approach for Rare Diseases Datawarehouse BNDMR Systems BaMaRa connectors Electronic health records connectors RaDiCo Systems and data Interoperability domains Epidemiology Care Research Infrastructure BNDMR, PNMR2 DGOS, DGS Digital Hospital Plan, DGOS, DGS, ARS, Investments for the Future, INSERM, ANR Source: Choquet R, Landais P, BaMaRa 2013

22 Building the RD Minimum data set: a 3 step approach Survey of needs and literature review Expert review and first selection Content ascertainment and standardization MDS V0.1 MDS V0.2 MDS v1 Svensson-Ranallo PA, Adam TJ & Sainfort F AMIA Summits Transl Sci Proc 2011;2011:54-8

23 step 1 : collecting the existing material MDS working group Existing MDS Literature Review Scientific Literature Dataset alignment and validation Results of the survey MDS 1.0 Survey 1.0 of RDRC needs 131 centers of reference

24 step 2: filtering MDS 1.0 BNDMR ministry office working group Expert advice Survey 1.1 MDS working group MDS 1.0 survey 1.1 Statistical analysis MDS 1.1 Survey centers of reference Expert advice

25 step 3: content definition and standardization BNDMR ministry office working group Expert advice Survey 1.2 MDS working group MDS 1.1 Content definition Survey 1.2 analysis Standardi zation MDS v1.2 Survey centers of reference Expert advice Standards : HL7, SNOMED, Orphanet, OMIM, HPO, SNOMED

26 Groups of items for the MDS o Consent o Patient identification o Personal and family information o Vital status MDS Complementary DS o Treatment o Activity o Ante and neonatal information o Care pathway and activities o Contextual information o Disease history, Diagnosis o Research samples

27 Alignment with ORDR and EPIRARE MDS ORDR (V2) EPIRARE Patient Identification Complementary info Diagnosis Research Care activity Treatment Ante & Neonatal Structure of care Consent Patient contact Socio-démography Patient status / QoL Genetics Transplantation

28 Conclusion The French programs BNDMR- BaMaRa and RaDiCo represent a new challenge. They cover two topics: public health and research At the junction of clinical data, images, biological data, pathology, biospecimen, «omics»,.. Using a shared information system enabling to connect professionals, With a minimum data set, promoting the exchange of information, Fostering research collaboration on RDs, Producing and spreading new knowledges dedicated to a better care for RD patients

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30 Acknowledgments To the DGOS, Ministry of Health: E Luigi, V Drouvot, L May, the BNDMR/BaMaRa and RaDiCo teams: C Messiaen, A de Carrara, M Maaroufi, Y Fonjallaz, M Macabiau, JP Necker, P Rigoux, The members of the French Rare Diseases Network, The members of the national BNDMR working group, The members of the clinical research platform of the Montpellier 1 university and Nîmes university hospital.