1. An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR https://spainrdr.isciii.es WP 3. Pilot Phase. Design and Preliminary results. 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. METHODS (7) WP2 : In order to asses relevance, inclusiveness, completeness, feasibility and availability in several operations a Pilot phase will be implemented 2 SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

3. To evidence the efficacy, in each Autonomous Community, for: Achieving an information process Submitting data Integrating data (in the National Registry) And to identify the problems and operability Objectives SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

4. Starting point: -WP 2 (T.7.2) Memory of activities – Procedures Manual. -Agreement on key aspects: rare diseases list, mapping of classifications. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

5. Step 1: To identify the data sources included (for the pilot phase) in each Autonomous Community. Step 2: To get the data and to adapt them in the structure of the Procedures Manual Step 3: To prepare the exchange file and to submit it to the IIER (Rare Diseases Research Institute) Step 4: To integrate the regional files into the national registry Step 5: To asses the results Steps SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

6. Schedule SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC StepWeeks 1234567891011121314 1 1 2 3 4 5 1 Comprehensiveness Report (global) Starting date: December 3 rd End date: March 11 th

7. Appropriateness of the decisions made in the previous steps regarding: List of diseases Specification of variables Needs identified, regarding technical capability for: Identifying and obtaining sources Management of files Degree of deadlines fulfillments Assessment of the sources comprehensiveness and quality All the previous should be materialized in an overall rating of viability, with a quality assessment to be obtained. Expected Results SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

8. 15/17 reports received. Heterogeneity of the filling out of the reports provided by each region (CCAA) Different criteria were used for the detection of duplicates, even different concepts of what a duplicate is. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Results

9. Structural sources used: SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

10. Results Complementary sources used: –Congenital Anomalies registries (3/15) –Primary Care Electronic Health Record (3/15) –Specific sources: Rare diseases registry (Extremadura) Congenital Anomalies Centre (CIAC) (Castilla y León) Foreign drugs (Murcia) SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

11. Source: Hospital discharges (CMBD) Problems detected: –Delay in the availability of the source due to a complex extraction of the data or delay due to the complexity of the request process. –Unspecificity of the codes for the identification of Rare Diseases cases. –Lack of patient identification data when not possible to cross data with other sources, such as health card. Bigger problem: case coming from another regions, private hospitals. –Complexity in the automatizatión of the process due to the heterogeneity of data and source size. –Impossibility to know the actual date of diagnosis, so that discharge date is used as such. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

12. Source: Health Card Problems have not been detected Except for those derived from data requests and delays in their transfers, most of them due to the incomplete map of regulations. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

13. Source: Renal Registries Problems detected: –Delay in data transfers in some regions (CCAA) –Difficulty for mapping the old EDTA code to ICD9 –Identification problems, mainly among non residents in the community, due to their lack of ID SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

14. Source: Metabolic diseases test Advantages of the source –It is available for immediate access or disponibility in most cases –Identification of the RD, generally without any problems –Reduced number of cases, what allows a better management of the source Problems of the source –No case identification, generally due to the incomplete map of regulations –Lack of data to complete the MDC, what makes it necessary to resort to other sources SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

15. Source: Mortality Problems detected –Derived from data transfer, what has been impossible in some regions (CCAA) –It has been used as a complementary source of information and not as a source of RD cases detection SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

16. Source: Cancer Registries Problems detected –Non disponibility of data, mainly due to: Complexity of the extraction using topography and morphology Data from the study period are not available, due to being in process of debugging and updating in the registries Need for exchange to ICD9-CM to ICDO codes in some regions (CCAA) SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

17. Source: Orphan Drugs Problems detected: –Difficulty for the identification of cases SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC

18. Pilot Phase Summary Report –Problems concerning data transfer derived from: Incomplete map of regulations Delay of the process due to difficulties in data extraction –Difficulties in cases identification: Incomplete map of regulations Cases belonging to other regions (CCAA) –Difficulties in diseases identification: Unspecified codifications, mainly ICD-9 Difficulties when mapping among different codifications (ICD-9 to ICD-10, morphologies in tumors) –Difficult management of the bases and automatization of the process, due the size and heterogeneity of some databases (ICD-9) SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Main problems detected in the process:

19. 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