state of art and results of the national registry of rare ... · antracosilicosis 2252 asbestosis...
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SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
State of art and results of the National Registry of Rare
DiseasesManuel Posada* & SpainRDR members
*Institute of Rare Diseases Research (IIER)Instituto de Salud Carlos III
Spanish Rare Diseases Registries ResearchNetwork ‐ SpainRDR
https://spainrdr.isciii.es
Madrid, Dec, 11th-12th, 2014
An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://www.spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
508,132 +
What is this?¿Qué es ésto?
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Global Repositoryhttps://registroraras.isciii.es
NHS Rare Diseases Strategy 2013
1. Rare DiseasesInformation
2. Prevention
3. Health Care
4. Therapies
5. Social care
6. Research
7. Training
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://www.spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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DIRECTORManuel Posada
Area of EpidemiologyIgnacio Abaitua
BiobankManuel Posada
RegistryIgnacio Abaitua
Congenital AnomaliesDepatment
Eva Bermejo
TOXIC OILSYNDROME
Ignacio Abaitua
Ethic Committee
Area of Human GeneticsFrancisco Javier
Alonso
Institute of Rare Diseases Research
Secretary
AUTISM SPECTRUMDISORDERS
Manuel Posada
MOLECULAR GENETICSBeatriz Martínez
RARE TUMOR IN CHILDREN
Francisco Javier Alonso
CELLULARBIOTECHNOLOGY
Javier García de Castro
THERAPY RESEARCHSonsoles Hortelano
ASEREMAC
Rare Bone DiseasesAntonio Morales
Information UnitCecilia Navascues
Outcomes ResearchUnit
Manuel Hens
GIRSALAMANCA
University
CIBERER
RARE DISEASESEPIDEMIOLOGYVerónica Alonso
Diagnostic GeneticDepartment
Francisco Javier AlonsoGema Gómez (R. Quality)
ExternalAgreementsExternalAgreements
Translational ResearchDepartments
Medical Societies
ASEBIOAELMHU
FUNDACIÓN FEDER
Research NetworksENERCA
RIBERMOV
CCAA
CREER
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://www.spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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)
Participants
HA
RM
ON
IZA
TIO
N
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SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
https://spainrdr.isciii.es
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 – https://www.spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Types of registries
Population-based
Surveillance
Planning
Etiology
PatientsParticipation
Autonomy
Access
Empowerment
PatientsregistryTherapeutic
Bioamrkers
Outcomes
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://www.spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Institute of Rare Diseases Research IIER, ISCIII Institute of Rare Diseases Research IIER, ISCIII
PATIENT REGISTRIES
APPLICATION FORM APPROVED
PEOPLE
DISEASE REGISTRY
B.D.
QUESTIONNAIRES
B.D.
BIOBANK
INFOREMD CONSENT
CLINICAL REPORT
RESEARCHERS
HEALTH REGIONS
RD MANAGER
General scheme for patient registered by themselves
REQUEST
B.D.
B.D.
DATAENTRY
What has beendone?
¿Qué se ha desarrollado?
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SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Extremadura
Murcia
Andalucía
Castilla la Mancha
Canarias
Comunidad Valenciana
Cantabria
Baleares
Aragón
Cataluña
Ceuta y Melilla y Asturias
La Rioja
Navarra
Pais Vasco
Castilla y León
0
2
4
6
8
10
12
14
16
18
Nu
mb
er o
f R
egio
ns
wit
h L
egis
lati
on
Month - Year
Number of CCAA with legislation
Modified June
Modifed Jan. 2012
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SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
SOPs and Data Validity processes
CA PNTs
Data entry: Data structureUser’s manualProcedures manual
Data sources: Source analysisData integration and management procedures
Consolidation of the database
Security document
IIER PNTs
Importation of AC files
Generation of AC errors and queries file
External data sources
Data process and management
Security documentCorrection of errors and queries response
AC registry updating
Generation of theAC exchange file
MDS & CDE
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Population-based registry
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
DICE-APER
Primary CareIs RD wellidentified?
ICD10
ICD9-CM
ICD-O ERA-EDTA
ICD10-BPA
Diseasename
Orphacodes OMIM
SNOMED CT
YESMIN
IMU
M D
ATA
SE
T
Tareas WP3 – Estandarization de los análisis estadísticos
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Enfermedad Renal QuísticaInforme para los Años 2010 a 2012 España
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
GeoTMap
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Delphi Study: What kind of RD Registriesmust 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
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Training on-line
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://www.spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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What type of results?
¿Qué clases de resultados?
Contribución de las CCAA
Estudio Piloto 2010-2011 Datos reales 20102-2012
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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PILOT STUDY
CASES BY ICD GROUPS (n= 818,348)
0
50000
100000
150000
200000
250000
1037510916
154535
106865
16151
5787480758
3899524345
42969
17152
45263
211734
315 101
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Actual Study 2010-2012
• 93.8% of población
1,046,394 Cases declared
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Data checking?¿Revisando datos?
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Autonomous Communities Cases Population - INE % TotalCasese 100,000
inhab
Comunidad Autónoma de Andalucía 165096 8.301.905 18,00191856 1,99Comunidad Autónoma de Aragón 33639 1.309.931 2,840465072 2,57Principado de Asturias 33929 1.048.173 2,272866889 3,24Comunidad Autónoma de Illes Balears 19829 1.103.237 2,392268116 1,80Comunidad Autónoma de Canarias 34765 2.125.977 4,60998588 1,64Comunidad Autónoma de Cantabria 13720 577.573 1,252414007 2,38Comunidad Autónoma de Castilla-La Mancha
50170 2.040.5554,424756118 2,46
Comunidad Autónoma de Castilla y León 129863 2.463.223 5,341272859 5,27Comunidad Autónoma de Cataluña 214818 7.251.447 15,72409686 2,96Comunidad Autónoma de Extremadura 21374 1.081.322 2,344747451 1,98Comunidad Autónoma de Galicia 0 2.720.243 5,898597124 0,00Comunidad de Madrid 164702 6.405.385 13,88948912 2,57Región de Murcia 33133 1.476.957 3,202645614 2,24Comunidad Foral de Navarra 15323 622.368 1,349547851 2,46Comunidad Autónoma de País Vasco 43783 2.109.651 4,574584448 2,08Comunidad Autónoma de La Rioja 5998 309.805 0,671783691 1,94Comunidad Valenciana 82588 5.013.303 10,87088715 1,65Ciudad Autónoma de Ceuta 0 77.374 0,167778413 0,00Ciudad Autónoma de Melilla 0 78.351 0,169896948 0,00
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Sources of informationFUENTES/Sources N %
C‐ CMBD 661184 77,86
D‐ anomalías congénitas 2133 0,25
H‐medicamentos huérfanos 1245 0,15
M‐mortalidad 7064 0,83
N‐metabolopatías (Cribado neonatal) 823 0,10
O‐Otros 331 0,04
P‐ Historia clínica electrónica. Atención Primaria 181232 21,34
Q‐ Historia clínica electrónica de hospitales 2596 0,31
R‐ Registro de enfermedades renales crónicas 8543 1,01
S‐ Registros específicos de ER de cada CA 1189 0,14
T‐ Registro de tumores 4240 0,50
A-Registro Asociaciones de pacientesE- Registro de enfer. declaración obligatoriaG- Registro de instituciones sociales y educativasI- Registros de investigación
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Data information
Información
Rare Diseases: Some preliminary data
ICD Groups
Nu
mb
ero
f ca
ses
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Mental Disorders Renal & Genital
Congenital Malformations Cardiovascular diseases
Distribution by age - Sex and group of diseases
RD by diseases typeER según tipo de enfermedad
Distribution
Number of cases 2010-2012
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Certain infectious and parasitic diseases BEHCET SYNDROME 1338
SARCOIDOSIS 5233
NeoplasmsPOLYCYTHEMIA VERA 3118MYCOSIS 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
Blood and blood-forming organsIDIOPATHIC TROMBOCYTOPENIC PURPURA 7636
HEMOPHILIA A 2099
Nervous systemDEMENTIA WITH LEWI BODIES 8494AMYOTROPHIC LATERAL SCLEROSIS 3558
HUNTINGTON’S DISEASE 965MYASTHENIA GRAVIS 5918
Respiratory systemIDIOPATHIC PULMONARY FIBROSIS 4937ANTRACOSILICOSIS 2252ASBESTOSIS 1734PULMONARY ALVEOLAR MICROLITHIASIS 28
Digestive systemGIANT CELL ARTERITIS 6638WEGENER’S GRANULOMATOSIS 1396POLYARTERITIS NODOSA 1090
Skin and subcutaneous tissuePEMPHIGUS 1445
Musculoskeletal System and Connective Tissue SJOGREN’S DISEASE 7865DISSEMINATED LUPUS ERIYTHEMATOSUS 10958GENERALIZED SCLERODERMA 4716DERMATOMYOSITIS 1564POLYMYOSITIS 819
Congenital AnomaliesSPINA BÍFIDA 4862ICHTHYOSIS CONGENITA 798OSTEOGENESIS IMPERFECTA 551MARFAN’S SYNDROME 792CONDRODISTROFIA CONGENITA 696CONGENITAL HIATAL HERNIA 306PRADER-WILLI SYNDROME 297X-FRAGILE SYNDROME 368EHLERS-DANLOS SYNDROME 258
RD and number of cases (examples)
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Patient Registries in SpainRDR
Registros de Pacientes en SpainRDR
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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 intellectualdisability (FEAPS)
Spanish Association of Human Genetic (AEGH)
Wolfram Syndrome Research and Assistance Spanish Association (AEIASW)
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Research Networks
• Iberoamerican multidisciplinary network for the movement disorders study: Parkinson’sDisease and Spinocerebellar Ataxias(RIBERMOV).
• European Reference Network for Rare and Congenital Anemias (ENERCA)
• Head of Regenerative Medicine Unit, CIEMAT• Spanish Rare Cancer Network - REDECAN
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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Patients RegistriesSEEP
• 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
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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
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Other Related International Actions
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://www.spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Translational Research
• National RD Strategy• Projects
– TREAT-NMD – Clinical Trial– School and RD children (bullying)– Drugs repurposing– Ictiosis– mRNA and autoimmune diseases– …
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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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
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
Summary
• SpainRDR is covering an important role in the RD field in Spain
– Full Cooperation (NHS & SS; Researchers; Industry and PatientOrganizations - FEDER)
• Challeging topcis
– ELSI
– Case ascertainment
– Validity and reliability data
– Sostenibility
SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
A national experiency useful for some others
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SpainRDR ‐ Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium‐IRDiRC
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 TIIER: Alonso V, Bermejo E, Morales A and Abaitua I
SpainRDR MembersNetwork
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Institute of Rare Diseases Research (IIER)
Instituto de Salud Carlos III
Manuel Posada
Thank you
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 (1852-1934) Médico español.