State of art and results of the National Registry of Rare Diseases

Transcription

1 State of art and results of the National Registry of Rare Diseases Manuel Posada* & SpainRDR members *Institute of Rare Diseases Research (IIER) Instituto de Salud Carlos III Spanish Rare Diseases Registries Research Network SpainRDR Madrid, Dec, 11 th -12 th,

2 508,132 + SpainRDR Spanish Rare Diseases Registries Research Network What is this? Qué es ésto? 2

3 Global Repository NHS Rare Diseases Strategy Rare Diseases Information 2. Prevention 3. Health Care 4. Therapies 5. Social care 6. Research 7. Training SpainRDR Spanish Rare Diseases Registries Research Network 3

4 Institute of Rare Diseases Research External Agreements DIRECTOR Manuel Posada Secretary CCAA Congenital Anomalies Depatment Eva Bermejo ASEREMAC Ethic Committee Biobank Manuel Posada Area of Human Genetics Francisco Javier Alonso Area of Epidemiology Ignacio Abaitua CREER CIBERER Registry Ignacio Abaitua Information Unit Cecilia Navascues Outcomes Research Unit Manuel Hens Diagnostic Genetic Department Francisco Javier Alonso Gema Gómez (R. Quality) Translational Research Departments MOLECULAR GENETICS Beatriz Martínez CELLULAR BIOTECHNOLOGY Javier García de Castro THERAPY RESEARCH Sonsoles Hortelano RARE TUMOR IN CHILDREN Francisco Javier Alonso Rare Bone Diseases Antonio Morales RARE DISEASES EPIDEMIOLOGY Verónica Alonso TOXIC OIL SYNDROME Ignacio Abaitua AUTISM SPECTRUM DISORDERS Manuel Posada Medical Societies ASEBIO AELMHU FUNDACIÓN FEDER Research Networks ENERCA RIBERMOV GIR SALAMANCA University SpainRDR Spanish Rare Diseases Registries Research Network Participants Coordinator: Institute of Rare Diseases Research (IIER, ISCIII) Manuel Posada de la Paz Spanish Ministry of Health, Social Services and Equity Autonomous Communities and Cities - Health Departments (17 Spanish regions) Medical societies (SEAIC; SEEP; SENP; SEPAR; SEMFYC; SEN; AEGH; AETAPI; FEAPS) CIBERER (some teams) Research Networks Industry (AELMHU, ASEBIO) Patient organizations (FEDER) Foundations (FEDER) HARMONIZATION 4

5 SpainRDR: Main Aim To set up a National Rare Disease Registry using the interaction between two different methodological approaches Population-based registries Patient registries outcomes research The basic aim is to improve prevention, diagnosis, prognosis (at different levels), treatment and quality of life for RD patients and their families using high quality information provided by the RD registry To provide the necessary information to the NHS To facilitate the implementation of RD-oriented health and social policies To promote the translational research SpainRDR Spanish Rare Diseases Registries Research Network 5

6 Types of registries Populationbased Surveillance Planning Etiology Patients Participation Autonomy Access Empowerment Patients registry Therapeutic Bioamrkers Outcomes SpainRDR Spanish Rare Diseases Registries Research Network 6

7 General scheme for patient registered by themselves PEOPLE APPLICATION FORM Institute of Rare Diseases Research IIER, ISCIII APPROVED RESEARCHERS REQUEST PATIENT REGISTRIES DATA ENTRY HEALTH REGIONS INFOREMD CONSENT CLINICAL REPORT B.D. DISEASE REGISTRY QUESTIONNAIRES BIOBANK RD MANAGER B.D. B.D. B.D. What has been done? Qué se ha desarrollado? 7

8 Number of CCAA with legislation Castilla y León Pais Vasco 14 Navarra Number of Regions with Legislation Canarias La Rioja Ceuta y Melilla y Asturias Cataluña Aragón Baleares Cantabria Comunidad Valenciana 4 Castilla la Mancha Modifed Jan Andalucía Modified June 2 Murcia Extremadura 0 Month - Year 8

9 SOPs and Data Validity processes CA PNTs Data entry: Data structure User s manual Procedures manual Data sources: Source analysis Data integration and management procedures Consolidation of the database Security document Generation of the AC exchange file Importation of AC files IIER PNTs Generation of AC errors and queries file External data sources Data process and management Correction of errors and queries response AC registry updating Security document MDS & CDE 9

10 Population-based registry ICD-O ERA- EDTA ICD9- CM ICD10- BPA MINIMUM DATASET ICD10 Is RD well identified? YES Disease name DICE-APER Primary Care SNOMED CT Orpha codes OMIM Tareas WP3 Estandarization de los análisis estadísticos 10

11 Enfermedad Renal Quística Informe para los Años 2010 a 2012 España GeoTMap 11

12 Delphi Study: What kind of RD Registries must be promoted by the Official Governamental Bodies Prevalence > 0.1/10,000 Orphan drugs and orphan designation Rare Metabolic and rare neurological diseases Improvement of the quality of life Training on-line SpainRDR Spanish Rare Diseases Registries Research Network 12

13 What type of results? Qué clases de resultados? Contribución de las CCAA Estudio Piloto Datos reales

14 PILOT STUDY CASES BY ICD GROUPS (n= 818,348) Actual Study ,046,394 Cases declared 93.8% of población 14

15 Data checking? Revisando datos? Autonomous Communities Cases Population - INE % Total Casese 100,000 inhab Comunidad Autónoma de Andalucía , ,99 Comunidad Autónoma de Aragón , ,57 Principado de Asturias , ,24 Comunidad Autónoma de Illes Balears , ,80 Comunidad Autónoma de Canarias , ,64 Comunidad Autónoma de Cantabria , ,38 Comunidad Autónoma de Castilla-La Mancha 4, ,46 Comunidad Autónoma de Castilla y León , ,27 Comunidad Autónoma de Cataluña , ,96 Comunidad Autónoma de Extremadura , ,98 Comunidad Autónoma de Galicia , ,00 Comunidad de Madrid , ,57 Región de Murcia , ,24 Comunidad Foral de Navarra , ,46 Comunidad Autónoma de País Vasco , ,08 Comunidad Autónoma de La Rioja , ,94 Comunidad Valenciana , ,65 Ciudad Autónoma de Ceuta , ,00 Ciudad Autónoma de Melilla , ,00 15

16 Sources of information FUENTES/Sources N % C CMBD ,86 D anomalías congénitas ,25 H medicamentos huérfanos ,15 M mortalidad ,83 N metabolopatías (Cribado neonatal) 823 0,10 O Otros 331 0,04 P Historia clínica electrónica. Atención Primaria ,34 Q Historia clínica electrónica de hospitales ,31 R Registro de enfermedades renales crónicas ,01 S Registros específicos de ER de cada CA ,14 T Registro de tumores ,50 A-Registro Asociaciones de pacientes E- Registro de enfer. declaración obligatoria G- Registro de instituciones sociales y educativas I- Registros de investigación 16

17 Data information Información Rare Diseases: Some preliminary data Number of cases ICD Groups 17

18 Mental Disorders Distribution by age - Sex and group of diseases Renal & Genital Congenital Malformations Cardiovascular diseases RD by diseases type ER según tipo de enfermedad Distribution Number of cases

19 RD and number of cases (examples) Certain infectious and parasitic diseases BEHCET SYNDROME 1338 SARCOIDOSIS 5233 Neoplasms POLYCYTHEMIA VERA 3118 MYCOSIS FUNGOIDES 1856 Endocrine, metabolic and inmune diseases CHRONIC LYMPHOCYTIC THYROIDITIS 8003 CUSHING S SYNDROME 3579 HYPOPARATHYROIDISM 3473 ACROMEGALY AND GIGANTISM 1002 ALPHA-1-ANTIRYTRIPSIN DEFICIENCY 811 CYSTIC FIBROSIS 2598 FATTY ACID OXIDATION DISORDERS 233 Nervous system DEMENTIA WITH LEWI BODIES 8494 AMYOTROPHIC LATERAL SCLEROSIS 3558 HUNTINGTON S DISEASE 965 MYASTHENIA GRAVIS 5918 Respiratory system IDIOPATHIC PULMONARY FIBROSIS 4937 ANTRACOSILICOSIS 2252 ASBESTOSIS 1734 PULMONARY ALVEOLAR MICROLITHIASIS 28 Blood and blood-forming organs IDIOPATHIC TROMBOCYTOPENIC PURPURA 7636 HEMOPHILIA A 2099 Digestive system GIANT CELL ARTERITIS 6638 WEGENER S GRANULOMATOSIS 1396 POLYARTERITIS NODOSA 1090 Skin and subcutaneous tissue PEMPHIGUS 1445 Musculoskeletal System and Connective Tissue SJOGREN S DISEASE 7865 DISSEMINATED LUPUS ERIYTHEMATOSUS GENERALIZED SCLERODERMA 4716 DERMATOMYOSITIS 1564 POLYMYOSITIS 819 Congenital Anomalies SPINA BÍFIDA 4862 ICHTHYOSIS CONGENITA 798 OSTEOGENESIS IMPERFECTA 551 MARFAN S SYNDROME 792 CONDRODISTROFIA CONGENITA 696 CONGENITAL HIATAL HERNIA 306 PRADER-WILLI SYNDROME 297 X-FRAGILE SYNDROME 368 EHLERS-DANLOS SYNDROME

20 Patient Registries in SpainRDR Registros de Pacientes en SpainRDR 20

21 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 ASD Professionals (AETAPI) Spanish Confederation of Organizations for people with intellectual disability (FEAPS) Spanish Association of Human Genetic (AEGH) Wolfram Syndrome Research and Assistance Spanish Association (AEIASW) 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 Spanish Rare Cancer Network - REDECAN 21

22 SEEP Differentiation Sexual Disorders (DSD) & Congenital Suprarenal Hyperplasia SEAIC Bradikinin mediated angoiaedema SEPAR Alveolar proteinosis; Alpha-1 antitrypsin deficiency; Histiocytosis X; Lymphangiomatosis; Sarcoidosis & Tracheal stenosis SENP Pulmonar Interstitial Fibrosis in children Patients Registries SEN Spinocerebellar ataxias and Paraparesia Spastic Familiar CIEMAT Epidermolysis Bullosa ENERCA Congenital and rare aenemias Spanish Clinical Group of the Wolfram Syndrome Wolfram Syndrome Cystinosis Research Team Cystinosis Final Messages Mensajes finales 22

23 Other Related International Actions SpainRDR Spanish Rare Diseases Registries Research Network Translational Research National RD Strategy Projects TREAT-NMD Clinical Trial School and RD children (bullying) Drugs repurposing Ictiosis mrna and autoimmune diseases 23

24 Next Steps To consolídate the Population-based registry - Regions Legal Framework First results Going-on with the promotion of patient registries Validity Audit Quality Assurance Plan Dissemination Websites Papers Align with other related projects RD-CONNECT European RD Platform (Ispra, Italia) Ontologies and GUID Summary SpainRDR is covering an important role in the RD field in Spain Full Cooperation (NHS & SS; Researchers; Industry and Patient Organizations - FEDER) Challeging topcis ELSI Case ascertainment Validity and reliability data Sostenibility A national experiency useful for some others 24

25 Acknowledgements CCAA: Zurriaga O, Astray J, Aldana-Espinal JM, Margolles MJ, Jiménez J, Palomar JA, Santana M, Carrillo P, Ramalle-Gomarra E, Ramos JM, Galán E, Arribas FE, Álamo R, Gutiérrez-Ávila G, Galmés A, García-Ribes M, Navarro C, Teijeira S, Errezola M, Ardanaz ME, García T IIER: Alonso V, Bermejo E, Morales A and Abaitua I SpainRDR Members Network 25

26 Razonar y convencer, qué difícil, largo y trabajoso! Sugestionar? Qué fácil, rápido y barato! to argue and convince, such difficult, time-consuming and hard work! to influence? How quick, easy and inexpensive! Santiago Ramón y Cajal ( ) Médico español. Thank you Institute of Rare Diseases Research (IIER) Instituto de Salud Carlos III Manuel Posada mposada@isciii.es 26