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) Work Package 2 WP2

2 Work Package 2 (WP2) SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Registering activity-related methods OBJECTIVES: This WP2 is responsible for developing the necessary analysis and basic methodological tools to enable a national network-based RD registry to be set up.

3 Work Package 2: Registering activity-related methods SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC TASKS: WP2 T5. Analysis of the state of the art of ongoing population-based RD registries in Spanish Autonomous Regions. WP2 T6. Undertaking an inventory of existing patient RD registries in Spain along with their main characteristics and external collaborations (funding, sponsors, sustainability, project participation, and more).

4 Work Package 2: Registering activity-related methods SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC TASKS: WP2 T7. Defining a core of standard methods to be applied in the population-based RD registries developed by the respective Autonomous Regions, including: T7.1. the drawing-up of an operational list and coding of RD based on several classifications and coding systems (ICD10- MC, ICD-9-MC, ICD11 revisions, Orphanet Database and SNOMED-CT clinical reference ) T7.1. the drawing-up of an operational list and coding of RD based on several classifications and coding systems (ICD10- MC, ICD-9-MC, ICD11 revisions, Orphanet Database and SNOMED-CT clinical reference ) T7.2. analysis of data sources (i.e., social and health sources); T7.2. analysis of data sources (i.e., social and health sources); T7.3. building the MDS and CDE in line with international strategies (NIH GRDR) T7.3. building the MDS and CDE in line with international strategies (NIH GRDR) WP2 T8. Training (coding and SOPs)

5 Work Package 2: Registering activity-related methods SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC NEW TASK: Pilot Trial: Designing a Pilot Trial according to agreed RD list, sources data, MDS, CDE and procedures Manual. November-December, 2012 Designing a Pilot Trial according to agreed RD list, sources data, MDS, CDE and procedures Manual. November-December, 2012 Carry out Pilot Trial. December, 2012-January, 2013 Carry out Pilot Trial. December, 2012-January, 2013 Analyzing Pilot Trial data and operations Analyzing Pilot Trial data and operations

6 Work Package 2: Registering activity-related methods SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PRODUCTS: Deliverables and timing:

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

8 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 WP 2 TASKS COORDINATORS TEAM WP 2 WP 2 Asturias: Mario Margolles WP 2 T5 WP 2 T5 Andalucía: Celia Salamanca and Josefa María Aldana. WP 2 T6 WP 2 T6 ISCIII: Manuel Posada WP 2 T7. 1 WP 2 T7. 1 ISCIII: Manuel Posada WP 2 T7. 2 WP 2 T7. 2 Madrid: Jenaro Astray WP 2 T7. 3 WP 2 T7. 3 Asturias: Mario Margolles Pilot Trial Pilot Trial Comunitat Valenciana: Oscar Zurriaga SpainRDR list of members Andalucía: Laura Lahera Robles, Aurora Megías Fernández, Celia Salamanca Rivera, Antonio González-Meneses López, Reyes Sanz Amores, María del Amor Bueno Delgado, Josefa María Aldana Espinal. Aragón: Clara Laguna Berna, Federico Arribas. Asturias: Laura Pruneda González, Mario Margolles Martins. C. Valenciana: Clara Cavero Carbonell, Rosana Guaita Calatrava, Miguel Ángel Martínez Beneito, Carmen Barona Vilar, Carmen Martos Jiménez, Oscar Zurriaga Llorens. Canarias: Ione Aguiar, Patricia Carrillo, Milagrosa Santana. Cantabria: Andrés Alvarado Garcia, Miguel García Ribes, Luis Miguel Ruiz Ceballos. Castilla La Mancha: Gonzalo Gutiérrez. Castilla y Leon: Tomás Vega Alonso, Rufino Álamo Sanz, Tomás Maté Enríquez. Cataluña: P Magrinyà, Josep Jiménez Villa. Extremadura: María del Carmen Antonaya Rojas, Julián Mauro Ramos Aceitero, Maria de los Angeles Garcia Bazaga, Enrique Galán. Galicia:Cristina Vázquez Santos, Carmen Navarro Fernández-Balbuena. Illes Balears: Mercedes Caffaro Rovira, Eusebi Castaño Riera, Antònia Galmés Truyols. INGESA: Teresa García. ISCIII: Manuel Posada, Ignacio Abaitua, Verónica Alonso. Madrid: Jenaro Astray Mochales, Ana Clara Zoni, Enrique Barceló, Felicitas Dominguez, María Esteban. Murcia: Joaquín A. Palomar Rodríguez, Ana Belén Moreno López, Marta Segura Aroca. Navarra: Eva Ardanaz. País Vasco: Ruth Martinez, M. Isabel Izarzugaza. La Rioja: Elena Ruiz Ruiz, Enrique Ramalle Gómara

9 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