1. An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR https://spainrdr.isciii.es WP3 – Overview and Delphi study on RD patient priorities Óscar Zurriaga Partner #2 C. Valenciana 1. Subdirección Gral. Epidemiología y Vigilancia de la Salud. Dir. Gral. Salud Pública 2. Área de Investigación sobre Enfermedades Raras. Centro Superior de Investigación en Salud Pública (CSISP-FISABIO) Institute of Rare Diseases Research (IIER) Instituto de Salud Carlos III File: IR11/RDR-XX Years: Dec, 2011-Dec, 2013 (2012-2014)

2. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network Work Package 3 Data analysis and outcomes research

3. Aims and Responsibles SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

4. This WP is targeted at: WP3 Data-analysis and outcomes research Organizing and standardizing data analysis Consensus of all partners Requisites for implementing and developing a Spanish RD Strategy SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

5. T9. Undertaking data-extraction, -processing, -cleaning and duplicate-data detection. T10. Developing “use cases” that can be used for data-extraction technology, information sharing and data-analysis. T11. Adopting a common set of epidemiological estimators for routine RD monitoring T12. Designing and implementing statistical methods for the production of rare disease health reports. T12.1. Selecting a Spanish minimum dataset for regional, national and international comparisons and analysis. T13. Developing a purpose-designed report template and user-friendly reporting facility. T14. Defining patient-specific outcome registries (i.e., pharmacovigilance of certain marketed orphan drugs) WP3 Tasks SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

6. Definition of sharing data process Data sharing and distribution: data holders, queries, local autonomy,… Collaborative governance Establishing relations among centers, regional registries and the national level Developing an “Adaptor” (connection to the local databases, export data process), using a standard format to ensure interoperability Establishing the way to connect data (single specific patient identification) SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

7. Definition of data analysis process Set of relevant measures/indicators useful for different users and different levels Minimum common set of indicators (Expertise Committee) Statistical methods to connect databases (local and regional) using open source software (BIRO project model) To develop automated report templates for different levels Comprehensive reports on selected multiple outcomes depending on the type of user Data quality assessment model SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

8. To establish which health care practices or interventions could be included for rare diseases Defining intermediate outcomes and final endpoints for the selected health care practices and interventions Defining the Patients Outcomes model SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

9. WP3 Deliverables and Milestones SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

10. WP3 Time Plan for Tasks SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

11. Spanish Rare Diseases Registries Research Network Workpackage 3 Task #14 Óscar Zurriaga Partner #2 C. Valenciana 1. Subdirección Gral. Epidemiología y Vigilancia de la Salud. Dir. Gral. Investigación y Salud Pública 2. Área de Investigación sobre Enfermedades Raras. Centro Superior de Investigación en Salud Pública (CSISP) SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

12. T9. Undertaking data-extraction, -processing, -cleaning and duplicate-data detection. T10. Developing “use cases” that can be used for data-extraction technology, information sharing and data-analysis. T11. Adopting a common set of epidemiological estimators for routine RD monitoring T12. Designing and implementing statistical methods for the production of rare disease health reports. T12.1. Selecting a Spanish minimum dataset for regional, national and international comparisons and analysis. T13. Developing a purpose-designed report template and user-friendly reporting facility. T14. Defining patient-specific outcome registries (i.e., pharmacovigilance of certain marketed orphan drugs) WP3 Tasks SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

13. To establish which health care practices or interventions could be included for rare diseases Defining intermediate outcomes and final endpoints for the selected health care practices and interventions Defining the Patients Outcomes model SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

14. Questionnaire Questionnaire, fulfilled by experts: -rare diseases -disease and health events registries -health information Goals: To define the criteria for: beginning and the promotion of patients registries by health administrations To define intermediate outcomes and final endpoints To standardize the analysis methods for the proposed goals for each registry proposed To plan the calendar and the resources needed to develop each registry proposed SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

15. Spain-RDR17 + 2 CIBERER1 FEDER2 Ministry of Health5 Scientific Assoc.5 Experts: Health Inf.4 Experts: Registries6 Participants 42 SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

16. 3 Questionnaires 3 Questionnaires: SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Round Items Participation rate Starting Reminder 1 1859,5%15/11/201229/11/2012 2 957,1%17/01/201329/01/2013 3 950,0%*11/02/201301/03/2013

17. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Questionnaire round #1

18. Questionnaire round #2 SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

19. Questionnaire round #3 SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

20. Todas las acciones clínicas identificadas que comporten la colección de casos de una misma enfermedad o grupo de enfermedades Conjunto de datos procedentes de registros administrativos que han sido procesados para cumplir propósitos estadísticos Sistema organizado que utiliza métodos de estudio observacional para recoger datos uniformes (clínicos u otros) para evaluar resultados específicos en una población definida por una determinada enfermedad, condición o exposición y que sirve a un propósito predeterminado, ya sea científico, clínico o político Sistemas de información sanitaria que constituyen un archivo de documentos que contiene información uniforme sobre personas individuales, recogidos de forma integral y sistemática para servir a un propósito predeterminado SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Patients registry definition 12,6 10,2 20,0 17,8 An organized system, which uses observational study methods to collect uniform (clinical or others) to assess specific data in a population define by disease, condition or exposure and which serves for a predetermined purpose, either scientific, clinical or political

21. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Round #2 Round #3

22. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Round #1

23. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Prevalence > 0.1/10000 Specific treatment (orphan drug) Endocrine or Nervous System

24. Main objective: to improve health care quality SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

25. T.14 Next steps SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC To finalize the analysis To send an abstract to the SEE/SESPAS 2013 meeting To prepare a manuscript

26. Thank you very much! SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC