Spanish Rare Diseases Registries Research Network –
SpainRDR -
https://spainrdr.isciii.es
2nd International Workshop
R
ARE DISEASE AND ORPHAN DRUG REGISTRIES
October 21-22, 2013
Manuel Posada. Director.
Institute of Rare Diseases Research (IIER)
Instituto de Salud Carlos III
Other Related International Actions
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
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
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
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
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
Scientific Researchers
and Clinicians
Patients registry
RESEARCH
Population-based registry
HEALTH PLANNING AND POLICIES
Patients
Regional Health Authorities
(Autonomous Communities)
Natural history of
the disease
Follow-up
Clinical Trials
(recruitment)
Biological samples
Prevalence
Incidence
Mortality
Natural history
of the disease
SPANISH NATIONAL REGISTRY
OF RARE DISEASES
IIER - ISCIII
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
INSTITUTE OF RARE DISEASES RESEARCH
PATIENT REGISTRIES
APPLICATION
ACEPTADA
CITIZEN
DISEASE REGISTRY
B.D.
QUESTIONNAIRES
B.D.
RD NATIONAL BIOBANK
INFOIRMED
CONSENT
CLINICAL
REPORT
PROFESIONAL
INSTITUTITIONS
PATIENT REGISTRY
COORDINATOR
Spanish National RD Registry
APPLICATION
B.D.
B.D.
ENTRANCE
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
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
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
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 –
https://spainrdr.isciii.es
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 –
https://spainrdr.isciii.es
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
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
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 –
https://spainrdr.isciii.es
Work Package 2 (WP2)
T7.3. “MDS” y “CDE” align with NIH GRDR
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
Coding lists
x
Congenital anomalies
Tumours
Chronic Renal Diseases –
patients undergo treatment due to chronic
renal insufficiency
Orphan Drugs
http://www.eurocat-network.eu/
http://www.rarecare.eu/
Only those congenital anomalies
included in SpainRDR - ICD9 list
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
Patient Registry Ineventory
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 –
https://spainrdr.isciii.es
SpainRDR - Spanish Rare Diseases Registries Research Network –
https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
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 resultados2.
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
QInd (Indicadores de calidad) Indicadores de establecimiento del
Registro
Indicadores de recolección de datos –Exactitud e integridad de los datos– Indicadores de los datos resultantes
Objetivo:
