1. An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR https://spainrdr.isciii.es PILOT STUDY. UPLOADING DATABASE PROCESS Ignacio Abaitua. Instituto de Investigación de Enfermedades Raras (IIER) Instituto de Salud Carlos III

2. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Uploading process 3 different uploading mechanisms Web Service Directly by the Autonomous Community in the Registry´s Web Deposit file in the SpainRDR´s Web – (we upload it) Previously distributed files XML, XDF Access PILOT STUDY. DATABASE UPLOADING PROCESS

3. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PILOT STUDY. DATABASE UPLOADING PROCESS

4. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PILOT STUDY. DATABASE UPLOADING PROCESS

5. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC CCAA who answered15 Completed revision 8 Incomplete revision 7 CCAA who have not answered 3 ANSWERS RECEIVED

6. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Sistematic revision prior to uploading Errors detected No coincidence between XML and Access Error in mortality codification Use of inadequate xml files Use of multiple xml files by one Autonomous Community PILOT STUDY. DATABASE UPLOADING PROCESS

7. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Problems with structure Problems with field labels In the name of the label changed names lowercase instead of uppercase or vice versa Presence of labels that are not in the uploading model Absence of labels that should be in the uploading model PILOT STUDY DATABASE UPLOADING

8. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Problems with content Variables out of range Coding errors (countries, etc.) Variable gaps Incorrect formats (dates, etc.) PILOT STUDY. DATABASE UPLOADING

9. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PILOT STUDY. DATABASE UPLOADING

10. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Interactive revision process CCAA Production of datafile IIER Datafile reception Transfer Error checking Correction of errors Commentaries Datafile loading New transfer PILOT STUDY. DATABASE UPLOADING

11. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PILOT STUDY. DATABASE LOADING Datafile uploading uploading times

12. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PILOT STUDY. LOADING DATABASE Datafile uploading File for reporting errors to the Autonomous Communities (CCAAs)

13. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PILOT STUDY. LOAD DATABASE

14. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC CCAA who answered15 Completed revision 8 Incomplete revision 7 CCAA who have not answered 3 ANSWERS RECEIVED

15. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC CCAA 8 Number of cases 567.405 Population represented 23.392.574 % relative to national population50,72 Estimated cases in Spain1.118.598 Answers received Completed revision

16. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Limitations. List with potential problems of errors in classification (codification system) List of codes is limited Access to information sources Objectives of the pilot study ANSWERS RECEIVED Completed revision

17. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC First pilot study shows strengths and weaknesses in the use of a common platform for a population-based registry of rare diseases Problems to solve participation of all the Communities (CCAAs) improve the standardization of uploading process Pending evaluation sources of information list of diseases detailed statistical analysis Overall positive balance General effort Good global response Great interest and commitment on the part of the CCAAs CONCLUSIONS

18. 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