An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR Institute of Rare Diseases Research (IIER) Instituto de Salud Carlos III File: IR11/RDR-XX Years: Dec, 2011-Dec, 2013 ( )

Madrid, March 4, 2013 SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC WP2 REGISTERING ACTIVITY-RELATED METHODS T5. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RD REGISTRIES IN SPAIN’S AUTONOMOUS REGIONS Celia Salamanca Rivera, MD, MPH Medical Specialist in Preventive Medicine, Public Health & Epidemiology Andalusian Health Care Plan for People Affected by Rare Diseases Andalusian Health Service

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC INTRODUCTION HEALTH REGISTRIES Useful tool for health care planning, management and delivery Especially valuable in the field of RD (scarcity, low level knowledge) Continuously updated, recoverable systematic database. Allows to perform inferences Population-based and patient-based registries ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC INTRODUCTION HEALTH REGISTRIES – POPULATION-BASED REGISTRIES Learn frequency, geographical distribution, evolution over time and other features. Promote studies on the availability, effectiveness, efficacy and accessibility to therapies. Identify the available and needed resources. Act as a support instrument to treatment planning and choice. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC INTRODUCTION HEALTH REGISTRIES : – COORDINATION WITH PATIENT-BASED REGISTRIES – PROBLEMS WITH CODES AND CLASSIFICATION – DIFFERENT LISTS OF RDs USED IN REGIONAL REGISTRIES. – NEED TO DESIGN A UNIFIED LIST OF RDs THAT IS USED IN ALL REGIONAL REGISTRIES. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC METHODS A. Legal Framework Institute of Health Carlos III (ISCIII) workgroup B. Status of Population-Based Registries Andalusia C. List of Diseases ISCIII Group ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

METHODS A.Legal Framework: The Institute of Health Carlos III (ISCIII) workgroup performed a study on the legal framework of different RD registries recognized as such in the Official State Gazette (B.O.E.) in Spain. This workgroup has gathered and analyzed information and designed a summary table (see the Results section). SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN A.Legal framework: summary table of the analysis performed by the ISCIII workgroup for the Spain –RDR project Order description National legal framework for data protection Regional legal framework for data protection Regional legal framework for health care National health system strategy for rare diseases developed by the Spanish Ministry of Health Regional Legal framework for rare diseases

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN A.Legal framework: summary table of the analysis performed by the ISCIII workgroup for the Spain –RDR project Name of the file (official name, named as ‘REGISTRY’ or as ‘INFORMATION SYSTEM’, inludes ‘Rare diseases’ in the official name) Aim and use of the Registry (providing care, knowledge generation, application) Coordination with other registries Institution Responsible Structure and Organization (potential data registered, imprint, reporting a case, processing data) Operational definitions

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN A.Legal framework: summary table of the analysis performed by the ISCIII workgroup for the Spain –RDR project Data collection procedure Source of information Obligations of the clinical units and of the institution responsible Data transfer and security Security measures (High level) Registration on Spanish Agency of Data Protection

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN A. Legal framework: summary table of the analysis performed by the ISCIII workgroup for the Spain –RDR project

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC METHODS B.Status of Population-Based Registries: 1)The Andalusian workgroup designed a survey in Excel format, which was sent to the different Autonomous Communities with an active population based RD registry. –Murcia, –Extremadura, –Castile - La Mancha. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN IDENTIFICADOR “ IDENTIFICATION CODE ” N Ú MERO DE HISTORIA “ MEDICAL HISTORY NUMBER ” NOMBRE Y APELLIDOS “ NAME AND SURNAME ” FECHA DE NACIMIENTO “ DATE OF BIRTH ” SEXO “ SEX ” C Ó DIGO POSTAL “ POSTAL CODE ” DEFUNCI Ó N “ DEATH” FECHA DE DEFUNCI Ó N “ DATE OF DEATH” JUICIO CL Í NICO “ CLINICAL JUDGEMENT” JUICIO CL Í NICO CODIFICADO_1 “ CLINICAL JUDGEMENT CODE-1” JUICIO CL Í NICO CODIFICADO_2 “ CLINICAL JUDGEMENT CODE-2” JUICIO CL Í NICO CODIFICADO_3 “ CLINICAL JUDGEMENT CODE-3” JUICIO CL Í NICO CODIFICADO_4 “ CLINICAL JUDGEMENT CODE-4” JUICIO CL Í NICO CODIFICADO_5 “ CLINICAL JUDGEMENT CODE-5” TRATAMIENTO FARMACOL Ó GICO ESPEC Í FICO ”SPECIFIC PHARMACOLOGICAL TREATMENT” DNI/PASAPORTE “ NATIONAL IDENTIFICATION NUMBER (DNI)/PASSPORT ”

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN Annex I: Survey in Excel format sent to the autonomous communities with an official RD registry. Data provided by Andalusia to help fill in the application form.

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN Annex I: Survey in Excel format sent to the autonomous communities with an official RD registry. Data provided by Andalusia to help fill in the application form.

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC METHODS B.Status of Population-Based Registries: The survey collects information on the variables included and the sources of data of population- based RD registries. The autonomous communities filled in the Excel file and sent it back to the workgroup coordinators in Andalusia, who analyzed the information provided through the survey (Annex I). ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC METHODS B.Status of Population-Based Registries: 2)Similarly, the workgroup in Andalusia sent to the communities another survey in Word format on different aspects of their population-based registries of common and rare diseases (Annex II). ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

The population-based RD registries identified by the different autonomous communities of Spain: Andalusia - RD registry of Andalusia - Andalusian Registry of Metabolopathies - Andalusian Early Care Information System (ALBORADA) - Renal Failure and Transplant Registry - Growth Hormone Information System (SIRHOCO) - Anatomical Pathology of Andalusian Public Hospitals - Central pharmacy and Hospital Pharmacies of the Andalusian Health System (SSPA) - Minimum data set at discharge (CMBDA) - DIRAYA (Digital Medical Record) - Death registry - Andalusian Cancer Registry - Patient Registry of the Reference Units and Procedures of Andalusia (UPRAs) in relation with Rare Diseases (Cystic Fibrosis, ALS, Porphyrias) - Andalusian Birth and Delivery Registry (RUPyNA) - Information System of the Andalusian Screening Program for Congenital anomalies (PACAC) SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

Annex II: Data survey on the RD registries of the autonomous communities of Murcia, Extremadura and Castile-La Mancha (Please, find attached the form submitted by Andalusia as an example) NAME OF THE AUTONOMOUS COMMUNITY: –Registry created by Order of: …………………………… –Data sources: –Variables:……………………… –Mortality:... –Coding system used: ………………… –Record format: ……………………… –Pesonnel: –Dependent on: ………………… SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC

METHODS B.Status of Population-Based Registries: The workgroup in Andalusia analyzed the information included in the regional population-based RD registries and the proposals made by the coordinators of these registries. The information gathered through the Word survey was also analyzed and summarized (see the Results section). ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC METHODS C.List of diseases: The ISCIII group sent an Excel file that included a list of IDC-9 codes –designed by the IIER– associated with a set of specific rare diseases classified by the system or organs involved. Examine discrepancies in the codes used by the different autonomous communities. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC METHODS C.List of diseases: The code lists were sent in an Excel file. The Autonomous Communities analyzed o how many of their regional codes were included in the ISCIII list, o how many were only used in their community. o Then, they filled and sent the Excel file back to ISCIII coordinators. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC CONCLUSIONS (I) 1. The legal frameworks for the five official RD registries: Similar. While the five registries consider security measures in some section, only four are affiliated to the Spanish Agency of Data Protection. It would be advisable that the Extremadura registry and future registries join the Spanish Agency of Data Protection. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC 2. Active population-based RD registries: Comparative analysis of active population-based RD registries revealed that data collection (format), the minimum and additional variables included and the coding system used should be standardized. Method based on information systems seems to be more simple, (more susceptible to bias) than the physicians' reports method. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN CONCLUSIONS (II)

SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC 3. Comparative analysis of the code lists used in the three Autonomous Communities with an active population-based RD registry revealed that there are many differences in general and by ICD-9 chapters. The analysis performed in this study revealed that it is necessary to standardize the data to be included in the Operational List in order to ensure data comparability and quality. ANALYSING THE STATE OF THE ART OF ONGOING POPULATION- BASED RARE DISEASES REGISTRIES IN SPAIN CONCLUSIONS (III)

PARTNER 4 – AUTONOMOUS COMMUNITY OF ANDALUSIA IP: Josefa María Aldana Espinal, MD, MPH. Specialist in Preventive Medicine & Public Health Celia Salamanca Rivera, MD, MPH. Specialist in Preventive Medicine & Public Health Antonio González-Meneses López, MD. Specialist in Pediatrics Maria del Amor Bueno, MD. Specialist in Pediatrics Reyes Sanz Amores, MD. Specialists in Family & Community Practice Personal hired by the project: Laura Lahera Robles Aurora Megías Fernández SpainRDR - Spanish Rare Diseases Registries Research Network – An initiative of the International Rare Diseases Research Consortium-IRDiRC ANALYSING THE STATE OF THE ART OF ONGOING POPULATION-BASED RARE DISEASES REGISTRIES IN SPAIN

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