An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR 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 ( )

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network Work Package 3 Data analysis and outcomes research

Aims and Responsibles SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

WP3 Deliverables and Milestones SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

WP3 Time Plan for Tasks SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – An initiative of the International Rare Diseases Research Consortium-IRDiRC

Spain-RDR CIBERER1 FEDER2 Ministry of Health5 Scientific Assoc.5 Experts: Health Inf.4 Experts: Registries6 Participants 42 SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

3 Questionnaires 3 Questionnaires: SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Round Items Participation rate Starting Reminder ,5%15/11/201229/11/ ,1%17/01/201329/01/ ,0%*11/02/201301/03/2013

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Questionnaire round #1

Questionnaire round #2 SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

Questionnaire round #3 SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

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 – 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

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Round #2 Round #3

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC Round #1

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

Main objective: to improve health care quality SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

T.14 Next steps SpainRDR - Spanish Rare Diseases Registries Research Network – 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

Thank you very much! SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC