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Manuela Mora Ayala
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1 Spanish Rare Diseases Registries Research Network SpainRDR - 2nd International Workshop RARE DISEASE AND ORPHAN DRUG REGISTRIES October 21-22, 2013 Manuel Posada. Director. Institute of Rare Diseases Research (IIER) Instituto de Salud Carlos III

es 2nd International Workshop RARE DISEASE AND ORPHAN DRUG

3 Other Related International Actions SpainRDR - Spanish Rare Diseases Registries Research Network

4 SpainRDR - Spanish Rare Diseases Registries Research Network SpainRDR: General Objective To set up a National Rare Disease Registry based on patient- and population-based registries strategies To improve prevention, diagnosis, prognosis, treatment and quality of life for RD patients and their families using high quality information To facilitate the implementation of RD-oriented health and social policies To promote the translational research

registries strategies To improve prevention, diagnosis, prognosis, treatment and quality of life for RD patients and

5 SpainRDR - Spanish Rare Diseases Registries Research Network Specific Objectives 1. To align actions and procedures with the IRDiRC 2. To develop an epidemiological rare-disease information system to support 1. Spain s official Rare Disease Strategy 2. Health-policy decision making 3. To generate standardised criteria 1. Minimum data set (MDS) 2. Common data elements (CDE) 3. Standard operating procedures (SOPs) 4. Quality assessment indicators 4. To improve knowledge of RD classification and coding systems 1. Spanish national health System 2. Social services

Spain s official Rare Disease Strategy 2. Health-policy decision making 3. To generate standardised criteria 1. Minimum data set (MDS) 2.

6 SpainRDR - Spanish Rare Diseases Registries Research Network Patients Scientific Researchers and Clinicians Regional Health Authorities (Autonomous Communities) Natural history of the disease Follow-up Clinical Trials (recruitment) Biological samples Patients registry RESEARCH Population-based registry HEALTH PLANNING AND POLICIES SPANISH NATIONAL REGISTRY OF RARE DISEASES IIER - ISCIII Prevalence Incidence Mortality Natural history of the disease

of the disease Follow-up Clinical Trials (recruitment) Biological samples Patients registry RESEARCH Population-based

SpainRDR - Spanish Rare Diseases Registries Research Network https://spainrdr.isciii.

7 SpainRDR - Spanish Rare Diseases Registries Research Network Spanish National RD Registry INSTITUTE OF RARE DISEASES RESEARCH PROFESIONAL CITIZEN APPLICATION ACEPTADA APPLICATION PATIENT REGISTRIES ENTRANCE INSTITUTITIONS INFOIRMED CONSENT CLINICAL REPORT B.D. DISEASE REGISTRY QUESTIONNAIRES RD NATIONAL BIOBANK PATIENT REGISTRY COORDINATOR B.D. B.D. B.D.

APPLICATION ACEPTADA APPLICATION PATIENT REGISTRIES ENTRANCE INSTITUTITIONS INFOIRMED CONSENT

10 SpainRDR - Spanish Rare Diseases Registries Research Network Organizations/Patient Registers Patient Organizations FEDER. Fundación Teletón FEDER para la Investigación en Enfermedades Raras Industry Spanish Association of Biotechnology Companies ASEBIO Farmaindustria Spanish Association of Orphan and Ultra-orphan Drugs Laboratories. AELMHU

Fundación Teletón FEDER para la Investigación en Enfermedades Raras Industry Spanish

11 Medical Societies Spanish Society of Allergy and Clinical Immunology (SEAIC) Spanish Society of Pneumology and Thoracic Surgery (SEPAR) Spanish Society of Family and Community Medicine (SEMFYC) Spanish Society of Pediatric Pneumology (SENP) Spanish Society of Neurology (SEN) Spanish Society of Pediatric Endocrinology (SEEP) Spanish Association of Professionals of Autism (AETAPI) Under negotiation Spanish Association of Human Genetic (AEGH) Spanish Society of Pediatric Neurology (SENEP) Spanish Association of Neurodevelopmental Sciences (ANDA) Spanish Society of Ophthalmology (SEO) Pediatric Spanish Association- Their associations Spanish Association of Neonatal Screening (AECNE) Spanish Society of Hospital Pharmacy (SEFH) SpainRDR - Spanish Rare Diseases Registries Research Network

negotiation Spanish Association of Human Genetic (AEGH) Spanish Society of Pediatric Neurology (SENEP) Spanish Association of Neurodevelopmental Sciences (ANDA) Spanish Society of Ophthalmology (SEO)

12 Research Networks Iberoamerican multidisciplinary network for the movement disorders study: Parkinson s Disease and Spinocerebellar Ataxias (RIBERMOV). European Reference Network for Rare and Congenital Anemias (ENERCA) Head of Regenerative Medicine Unit, CIEMAT Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) Spanish Collaborative Study of Congenital Malformations Agreement not signed yet The Spanish Research Group of Genetic Mental Retardation (GIRMOGEN) CIBERNED, Neuromuscular diseases European Project about McArdle s disease SpainRDR - Spanish Rare Diseases Registries Research Network

Congénitas (ECEMC) Spanish Collaborative Study of Congenital Malformations Agreement not signed yet The Spanish Research Group of Genetic Mental Retardation

13 SpainRDR - Spanish Rare Diseases Registries Research Network Patients Registers Differentiation Sexual Disorders (DSD); Congenital Suprarenal Hyperplasia and possibly Prader-Willi Alveolar proteinosis; Alpha-1 antitrypsin deficiency; Histiocytosis X; lymphangiomatosis; Sarcoidosis, Tracheal stenosis Pulmonar Interstitial Fibrosis in children Spinocerebellar ataxias and Paraparesia Spastic Familiar Epidermolysis Bullosa Bradikinin mediated angoiaedema Cystinosis Congenital and rare anemias Spanish registry of patients with McArdle disease Neuromuscular diseases All rare Congenital Malformations Some rare cancers: Retinoblastoma; Ewing tumor; Suprarenal Cancer; Familiar Pancreas Cancer All rare diseases included in the neonatal screening national program All diseases with OD marketed in Spain

lymphangiomatosis; Sarcoidosis, Tracheal stenosis Pulmonar Interstitial Fibrosis in children Spinocerebellar ataxias and Paraparesia Spastic Familiar Epidermolysis Bullosa Bradikinin mediated

14 WP 1:Advisory Board Stephen Groft, Director ORDR, NIH, USA Hanns Lockmuller, Chiar of Experimental Myology, IGM, NWU- IP RD-CONNECT; Scientific Coordinator IRDiRC Domenica Tarsucio, Director CNMR, ISS; EPIRARE Rumen Stefanov, Dean, Faculty of Public Health. Medical University of Plovdiv, Bulgaria; Director, Information Centre for Rare Diseases and Orphan Drugs Antoni Montserrat, Policy Officer for Cancer, Rare Diseases and Neurodevelopmental disorders Directorate of Public Health (SANCO C-1). European Commission SpainRDR - Spanish Rare Diseases Registries Research Network

Medical University of Plovdiv, Bulgaria; Director, Information Centre for Rare Diseases and Orphan Drugs Antoni Montserrat, Policy Officer for Cancer,

15 Work Package 2 (WP2) T7.3. MDS y CDE align with NIH GRDR SpainRDR - Spanish Rare Diseases Registries Research Network

16 SpainRDR - Spanish Rare Diseases Registries Research Network Coding lists x Congenital anomalies Only those congenital anomalies included in SpainRDR - ICD9 list Tumours Chronic Renal Diseases patients undergo treatment due to chronic renal insufficiency Orphan Drugs

eu/ Only those congenital anomalies included in SpainRDR - ICD9 list Tumours Chronic

17 SpainRDR - Spanish Rare Diseases Registries Research Network Patient Registry Ineventory N Total: 67

18 RD Patient Registry to be promoted Prevalence > 0.1/10000 Specific treatment (Orphan drug) Neurological and metabolics RD Quality of life SpainRDR - Spanish Rare Diseases Registries Research Network

and metabolics RD Quality of life SpainRDR - Spanish

19 ON-line training SpainRDR - Spanish Rare Diseases Registries Research Network

20 T16. Definición de un marco de evaluación de la calidad Calidad en el diseño Calidad en el proceso QA (Garantía de calidad) QC (Control de calidad) QAss (Evaluación de la calidad) QR (Calidad de los datos resultantes) Garantizar la calidad de: 1. Datos: Cobertura Integridad Exactitud Exactitud de la información Exactitud de la interpretación 2. Procedimientos del registro (Manual de procedimientos) 3. Sistemas computarizados 4. Seguridad y confidencialidad 5. Fase de diseño Se requiere: Definición de caso y criterios de inclusión/exclusión de caso Fuentes de casos (análisis de las fuentes de información) Lista de covariables, diccionario de variables y codificación Normas y documentación (Manual procedimientos + Fase piloto) Buenos sistemas de codificación(sólo 1 código para cada término) Estándares (Ej: %máximo, error tolerable en la variable sexo, datos,...) Describir las normas y procedimientos para medir y evaluar la calidad de los datos en las siguientes áreas: 1. Integridad 2. Comparabilidad 3. Validez de la exactitud 4. Oportunidad 5. Evaluación de la fuente de información 6. Seguridad y confidencialidad Las medidas de control de la calidad pueden ser: Continuas: medidas que forman parte de los procedimientos estándares del registro (verificaciónes informáticas de calidad de los datos) Ocasional: encuesta ad hoc para formular preguntas específicas de calidad de datos Datos de alta calidad conseguidos. Evaluación periódica de las tareas de control de la calidad. Identificación y resolución de problemas: Problemas en la selección y extracción de casos Errores de codificación, entrada, manipulación y exactitud de los datos Consistencia de los datos en distintos sitios y a lo largo del tiempo Errores internacionales Seguridad de los datos y confidencialidad Seguimiento (ej: mortalidad) Atemporalidad (asegurar la calidad de los datos) Cobertura Coordinación Evaluación interna y externa de los procedimientos y las estrategias de control de calidad Uso de informes de datos normalizados (DRRF) 1. Validez de los resultados 2. Atemporalidad/actualidad (entrega de los datos) 3. Informes Validez interna y externa: o Interna: sin sesgo (exactitud en las mediciones) o Externa: consistencia y coherencia de los resultados Uso de informes de datos normalizados Indicadores de establecimiento del Registro QInd (Indicadores de calidad) Indicadores de recolección de datos Exactitud e integridad de los datos Objetivo: 1. Proveer evaluación de calidad y discrepancia 2. Proveer una guía para registrar la trazabilidad del proceso 3. Identificar vacíos de información 4. Enfatizar interdependencia 5. Enfatizar interdependencia de calidad y discrepancias 6. Promover conocimiento/conciencia y cambio Indicadores de los datos resultantes SpainRDR Red española de Registros de Enfermedades Raras Una iniciativa del Consorcio Internacional de Enfermedades Raras-IRDiRC

Procedimientos del registro (Manual de procedimientos) 3. Sistemas computarizados 4. Seguridad y confidencialidad 5.

21 SpainRDR - Spanish Rare Diseases Registries Research Network SpainRDR. Outcomes achieved Pilot study. 12 CCAA + INGESA Annonimized data Andalucía, Murcia y Madrid + 4 INGESA 9 Complete data , el 80,18 % of the total Spanish population cases Overall Spanish estimate No data: Canarias, Islas Baleares, Extremadura, Galicia, País Vasco

22 Are there really differences between registries? Patients registry Patients Populationbased

24 Thank you very much! Institute of Rare Diseases Research (IIER) Instituto de Salud Carlos III Manuel Posada

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Exp: IR11/RDR 01 Periodo: Dic, 2011 Dic, 2014 (2012 2014) IP: Manuel Posada. Director. IIER Spanish Rare Diseases Registries Research Network Red Española de Registros de Enfermedades Raras para la Investigación SpainRDR https://spainrdr.isciii.es Instituto de Investigación de Enfermedades Raras