1. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Spanish Rare Diseases Registries Research Network - SpainRDR https://spainrdr.isciii.es WP-6. PATIENT REGISTRIES Manuel Posada. 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

3. “A patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes” Organised system Observational methods Harmonized data collection (disease & other) Defined population Evaluation of specific results (outcomes) Scientific, clinical and health policy goals (aims) PATIENT REGISTRIES

4. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC  RD to be included  Formal agreement with ISCIII  Creation of the Registry consortium  Elaboration of specific Common Data Elements for RD involved  IIER Informed Consent is adapted  File Declaration in the Spanish Agency for Data Protection Not always needed  Security Document  Thinking about sustainability PROCESS TO ESTABLISH A PATIENTS REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENTS REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

5. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Agreement with ISCIII Based on scientific/medical societies and/or consolidated Research networks Ensuring aims and areas of interest on both sides Agreement Template of ISCIII PROCESS TO ESTABLISH A PATIENTS REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENTS REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

6. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Registry consortium Establishing a consortium agreement Person/s responsible for the group. Person/s in charge of collecting data Person/s with free access to the registry. Policy for information review Policy for access to results. Policy for publications, communications, etc of the group in relation to the specific registry Internal body in charge of conflict resolutions. PROCESS TO ESTABLISH A PATIENTS REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENTS REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

7. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Elaboration of the Data Model of the Registry  MDS (Core of elements) – National Registry  Oriented to their own objectives  Feasible  Standardized  Follow-up strategy PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

8. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC IIER informed consent (National Registry of Rare Diseases)  Voluntary, without coercion or pressure and with full awareness and knowledge of the signataire´s own rights.  Should provide sufficient information and expressed in an easily comprehensible manner.  Should take into account the patient´s comprehension ability and in case the patient is not fully able to comprehend, the agreement should be signed by his/her tutor or legal representative  Rights of modification, correction and cancellation  Some partners decide to add some other questions PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

9. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Declaration in the AEPD (Spanish Agency for Data Protection)  Registries integrated in the National RD Registry  External RD registries with mutual collaboration PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

10. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Security document Is the master document of the security system in terms of data protection, establishing and detailing procedures and rules of application and it also identifies and defines responsibilities of the persons in charge of data and security of the system.  Registries integrated in the National RD Registry  Should be known and accepted by all participants in the consortium.  External registries with mutual collaboration: Own elaboration PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

11. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Sustainability  Included at the National RD Registry  Supported and guaranteed by the ISCIII  External registries with mutual collaboration  Sustainability must be achieved externally. PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT PROCESS TO ESTABLISH A PATIENT-BASED REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT

12. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PATIENT REGISTRIES IN THE NATIONAL REGISTRY FOR RARE DISEASES

13. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC REGISTRY Deficit of alpha-1-antitripsine Histiocytosis X Alveolar proteinosis Linfangioleiomiomatosis Hereditary Angioedema Rare and congenital anomalies Pediatric interstitial lung diseases Anomalies of sexual differentiation Registro de Ataxias y Paraparesia espástica familiar Epidermolysis Bullosa Pulmonar hipertension McArdle Ano-rectal malformations and Hirschsprung disease. Sarcoidosis Xeroderma pigmentosum Tracheal stenosis Hiperplasia suprarrenal congénita (HSC) PATIENT REGISTRIES IN THE NATIONAL REGISTRY FOR RARE DISEASES

14. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC SITUATION OF PATIENT REGISTRIES Registries already established independently of the National Register with mutual collaboration: Alpha 1 antitrypsin deficiency pulmonary hypertension Registries integrated in the National Register and already developed: Abnormalities of sexual differentiation lymphangioleiomyomatosis Ataxia and familial spastic paraparesis Pediatric lung interstitial fibrosis

15. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Registries with data model elaborated, pending development in the National Registry: Histiocytosis X Alveolar proteinosis Hereditary Angioedema Epidermolysis bullosa Adrenocortical tumor (Cushing) Registries with data model elaboration in process, pending development in the National Registry: Congenital and rare anemias Tracheal stenosis McArdle disease Ano-rectal malformations and Hirschsprung disease. Sarcoidosis Xeroderma pigmentosum SITUATION OF PATIENT REGISTRIES

16. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC Registro Enfermedad-esResponsable Deficit de alfa-1-antitripsinaBeatriz Lara Gallego Histocitosis XDiego Castillo Villegas Proteinosis AlveolarEsteban Cano Giménez LinfangioleiomiomatosisÁlvaro Casonova Espinosa Angioedema HereditarioMª Teresa Caballerro Molina Anemias Raras y CongenitasJuan Lluis Vives Corrons Enfermedades Intersticiales PediátricasAntonio Moreno Galdo Anomalías de la diferenciación SexualLaura Audí Parera Registro de Ataxias y Paraparesia espástica familiarAntoni Matilla Dueñas Epidermolisis BullosaMarcela del Rio Nechaevsky Hipertensión pulmonarPilar Escribano McArdleMiguel Ángel Martín Casanueva Malformaciones anorrectales y enfermedad de Hirschsprung.Araceli García Vázquez SarcoidosisIñigo Ojanguren Arranz Xeroderma pigmentososPaloma Sánchez-Pedreño Guillén Estenosis traquealGenaro Galán Gil Hiperplasia suprarrenal congénita (HSC)Laura Audí Parera

17. 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

18. Sociedad/GrupoAcrónimo Spanish Society of Allergology and Clinical ImmunologySEAIC Hospital Clínic of BarcelonaHCB Spanish Society of Pediatric PneumologySENP Spanish Society of NeurologySEN Centre for Energy, Environment and Technology ResearchCIEMAT PATIENT REGISTRIES IN THE NATIONAL REGISTRY FOR RARE DISEASES

19. SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC PROCESS TO ESTABLISH A PATIENTS REGISTRY IN THE FRAMEWORK OF THE SpainRDR PROJECT