1. An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR https://spainrdr.isciii.es 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 Work Package 2 T7.2 March 4th 2013

3. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC INTRODUCTION WP2 T5T6 T7 T8T1T2T3T4 T1 T2 T3 Integrantes Asturias: Mario Margolles Cataluña: Josep Giménez (coordinador) Extremadura Julián Mauro Ramos Galicia: Carmen Navarro Fernández Balbuena, Cristina Vázquez Madrid: Jenaro Astray Mochales (coordinador), María Felicitas Domínguez Berjón, María Dolores Esteban Vasallo, Enrique Barceló González, Ana Clara Zoni Comunidad Valenciana: Oscar Zurriaga Llorens Instituto de Salud Carlos III: Ignacio Abaitua, Manuel Posada. WORK PACKAGE 2 (T 7.2): analyses of data sources (i.e., social and health sources)

4. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC INTRODUCTION OBJECTIVE Identify possible data sources on RD available in each Autonomous Community (Regional Government).

5. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC METHODS DESIGN: DESCRIPTIVE STUDY SURVEY: to collect the information in a structured and homogeneous way CONTACT: Coordinator of RDR each Autonomous Community TOOL: Access database

6. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC STRUCTURAL Individualized Health Card database Basic Minimun Data Set (BMDS) Mortality registry Tumor Registry Renal Chronic Diseases Registry Metabolic Diseases Registry Notifiable Diseases Registry Orphan Drugs Registry NON STRUCTURAL Primary Care Electronic Medical History Birth Defects Registry Birth Registry Research project Others DATABASE: data sources METHODS

7. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC DATABASE: list of variables 1.Autonomous Community 2.Generic name of the information source 3.Specific name of the information source 4.Objective data source 5.Scope: regional/ national. Others 6.Type of Source: Primary / Secondary 7.Start date and end of the source 8.Preview data transfer: Yes / No 9.Availability of the data: Nominal data/ anonymous / aggregated 10.Availability data to include in RDR: Yes / No. 11.Collection: active / passive. 12.Case identification: Yes / No 13.Additional data: Yes / No 14.Estimated cases / year 15.Periodicity of case update. 16.Contact / Email 17.Type of rare diseases: ICD-9-CM large groups. 18.Patient identification: Health card, social security number / sex / date of birth / medical record number 19.Date of clinical data: Onset, diagnosis, death. 20.Clinical variables and treatment 21.File Structure (Format): Excel / ASCII- TXT/DBF / Other 22.Type of coding: ICD-9 / ICD 19/CIAP- WONCA/ S-NOMED / NANDA / ORPHANET / None / Literal/ Other 23.Format: Excel / ASCII TXT / DBF METHODS

8. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC RESULTS Data sources ANDALUCÍA ARAGON ASTURIAS BALEARES CANARIAS CANTABRIA CASTILLA -L CASTILLA-LM CATALUÑA EXTREMADURA GALICIA LA RIOJA MADRIDMURCIA NAVARRA C.VALENCIANA PAIS VASCO STRUCTURAL Health card database xxxxx xx xx xxxxx X H. Discharge DB (BMDS) xxxxxxxxxxxxxxxxx Mortality registry xxxx x xxxxx xxx Tumor Registry xxxxx xx xxxxxxxx Renal Chronic D. Registry xx x xxx x x Metabolic D. Registry x xxx xx xxxxxxxxx Notifiable D. Registry xxx x x xxx xx xxxx Orphan drugs Registry x xxx xx xxx xx NON STRUCTURAL PC. electronic medical history xxxxx xx x xxx Birth Defects Registry x x x x xxx Birth Registry x x x Other drugs registries x x x x Table 1: Sources of information available for RDR in each Autonomous Community AC anonymous publication?

9. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC RESULTS Variables Health card data base BMDS Mortality Registry Tumor Registry Renal Chronic D. Registry Metabolic D. Registry Notifiable D. Registry Orphan Grug Registry National health card number (TIS) 911-66331 CA health card number (CIPA) 1314-104775 Social security number 127-7334- ID number 13511 9352 Country of birth 63122341 Name /Surname 1351113915119 Address 106554574 Date of birth 13161213815107 Sex 13161213815128 Death 34744-31 Date of death 41513 7381 Table 2: Number of Autonomous Communities that had essential information from data sources in 2012.

10. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC CONCLUSION BMDS is the only source available in all the A.C More effort is needed: to take up outpatients and to identify cases from private hospitals to merge health sources with social sources To date, some Autonomous Communities do not have authorization to send nominal data to the National RDR, in part due to the legal issues of data protection. Next step: publication

11. Principal Investigators SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

12. 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