Transcript Spanish Rare Diseases Registries Research Network

Spanish Rare Diseases Registries Research Network SpainRDR
https://spainrdr.isciii.es
Institute of Rare Diseases Research (IIER)
Instituto de Salud Carlos III
Exp: IR11/RDR-01
Years: Dec, 2011-Dec, 2013 (2012-2014)
PI: Manuel Posada. Director. IIER
An initiative of the International Rare Diseases Research Consortium-IRDiRC
SpainRDR: General Objective
• To set up a National Rare Disease Registry based
on patient- and population-based registries
strategies
• IIER, ISCIII; MSSSI & CREER;
• Regional Health Authorities (Autonomous
Communities)
• Several Stakeholders
• Medical societies
• Research Networks
• Industry
• Patient organizations
• Foundations
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
SpainRDR: General Objective (cont)
• To share common data
• 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://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
SpainRDR: General Objective (cont)
• The overall 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
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
Specific Objectives
1. To align actions and procedures with the international RD
registry strategy to be implemented by the IRDiRC
2. To develop an epidemiological rare-disease information
system to support Spain’s official Rare Disease Strategy and
health-policy decision making
3. To generate standardised criteria, including a minimum data
set (MDS), common definitions of their components (common
data elements-CDE), a list of standard operating procedures
(SOPs) and quality assessment indicators and procedures
4. To improve knowledge of RD classification and coding
systems at a the Spanish national health and social services
level
5. To define criteria for selecting a priority RD list for promoting
the inclusion of rare disease patient registries within the
National RD Registry structure
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
Scientific Researchers
and Clinicians
Patients
Regional Health Authorities
(Autonomous Communities)
Patients registry
Population-based registry
RESEARCH
HEALTH PLANNING AND POLICIES
Natural history of
the disease
Prevalence
SPANISH NATIONAL REGISTRY
OF RARE DISEASES
IIER - ISCIII
Follow-up
Clinical Trials
(recruitment)
Incidence
Mortality
Natural history
of the disease
Biological samples
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
MSSSI & Autonomous
Communities
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Comunidad Autónoma de Galicia
Gobierno del Principado de
Asturias
Comunidad Autónoma de
Cantabria
Comunidad Autónoma del País
Vasco
Comunidad Foral de Navarra
Comunidad Autónoma de Cataluña
Comunidad de Aragón
Comunidad Autónoma de La Rioja
Comunidad Autónoma de CastillaLeón
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Comunidad de Madrid
Comunitat Valenciana
Región de Murcia
Junta de Comunidades de CastillaLa Mancha
Comunidad Autónoma de
Extremadura
Comunidad Autónoma de
Andalucía
Illes Balears
Comunidad Autónoma de Canarias
MSSSI (Some units)
INGESA- MSSSI
CREER-IMSERSO-MSSSI
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
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
An initiative of the International Rare Diseases Research Consortium-IRDiRC
Medical Societies
Spanish Society of Allergy and Clinical Immunology (SEAIC)
Spanish Society of Pneumology and Thoracic Surgery (SEPAR)
Spanish Association of Neonatal Screening (AECNE).
Spanish Society of Family and Community Medicine (SEMFYC)
Spanish Society of Pediatric Pneumology
Spanish Society of Neurology
Agreement not signed yet
Spanish Society of Pediatric Endocrinology (SEEP)
Under negotiation
Spanish Society of Pediatric Neurology
Spanish Society of Ophthalmology
Pediatric Spanish Association
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’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
An initiative of the International Rare Diseases Research Consortium-IRDiRC
WPs
WP1
Deliverables
Partner leaders
End Month(s)
Milestones
Month
Co-ordination and management
IIER
D1
Kick-off meeting
IIER
2
M1
2
D2
Implementing management boards
IIER
6
M2
6
SC /PMT and WP meetings
IIER
10-18-24-30-36
IIER
12-24-36
M5-M12-M14
12-24-36
M3
8
M11-M13-M15
20-28-36
D3-D7
D8-D10 Financial and follow-up reports
WP2
D11
Registering activity-related methods
State of the art of the population-based
RD registries
Asturias
Andalucía
12
Inventory of RD patient registries in Spain IIER
D12
Defining a core of standardized methods
Asturias
8
WP3
Data-analysis and outcomes research
All Autonomous
Communities
C. Valenciana
D16
Developing “use cases”
C. Valenciana
30
D17
Common set of epidemiological estimates C. Valenciana
18
D13-D15 Training
D18-D20 Implementation of statistical methods
D21
D22
WP4
Template report
Defining patient-specific outcomes
registries
Quality assessment and ethical and
legal issues
10-22-34
C. Valenciana
20-28-36
C. Valenciana
34
IIER
10
M4
10
Catalunya
D23
Developing the SOPs
Catalunya
12
M6
12
D24
Define the quality assessment criteria
Catalunya
12
M7
12
IIER
10
M8
12
IIER
12
M9
14
M10
16
WP5
Analysis of the health registries legal
framework
Establish the appropriateness principles
and National RD Registry
Dissemination and impact
D27
Website of the network (IIER)
D25
D26
D27
D28
D29
IIER
IIER
All Autonomous
Websites of the Spanish Autonomous
Communities
Communities
Epidemiological data for those RD without
IIER
available treatment
e-news Bulletin
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24
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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
Leaders of WPs Teams
• WP1. Co-ordination and management – Manuel
Posada
• WP2. Registering activity-related methods – Mario
Margolles (Asturias)
• WP3. Data-analysis and outcomes research –
Óscar Zurriaga
• WP4. Quality assessment and ethical and legal
issues – Josep Jiménez
• WP5. Dissemination and impact – Manuel Posada
• WP6. Patient Registries – Manuel Posada
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
Patients Registers
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Differentiation Sexual Disorders (DSD); Congenital Suprarenal Hyperplasia and possibly PraderWilli
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Bradikinin mediated angoiaedema
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Alveolar proteinosis; Alpha-1 antitrypsin deficiency; Histiocytosis X; lymphangiomatosis;
Sarcoidosis, Tracheal stenosis
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Pulmonar Interstitial Fibrosis in children
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Spinocerebellar ataxias and Paraparesia Spastic Familiar
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Epidermolysis Bullosa
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Congenital and rare aenemias
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European registry of patients with McArdle disease and very rare muscle glycogenolytic
disorders (MGD) with exercise intolerance as the major symptom (PR-MDMGD). EUROMAC, EAHC
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Neuromuscular diseases
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All rare Congenital Malformations
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Some rare cancers: Retinoblastoma; Ewing tumor; Suprarenal Cancer; Familiar Pancreas Cancer
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All rare diseases included in the neonatal screening national program
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All diseases with OD marketed in Spain
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National Registry of Fragile X Syndrome (FXS)
SpainRDR - Spanish Rare Diseases Registries Research Network – https://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
SpainRDR websites
Intranet
Intranet
National
RD Registry
www
National
www
Intranet
Intranet
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
https://registroraras.isciii.es
https://spainrdr.isciii.es
WP1 activities
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
WP 1: Workplan
• Kick-off meeting M2
• Implementing management boards M4
• SC/PMT and WP meetings M11
– Phone conferences (PMT-M8)
– WP meetings (T7.3-M6 & M11)
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
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
• Xavier Badia, Senior Principal HEOR, IMS Health
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
WP 1: Ethic Committee
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Javier Júdez Gutiérrez (Chair)
Lydia Feito Grande
Antonio Morales Piga (Secretary)
Mª Concepción Martín Arribas
Teresa Pámpols Ros
Jaime Campos Castell
Pilar Nicolás Jiménez
Juan Fuertes Guillén (FEDER)
Mauro Rosati (FEDER)
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
WP 1: Other Committees
• PMT
• Mario Margolles, Josep Jiménez, Óscar Zurriaga, Verónica Alonso,
Ignacio Abaitua y Manuel Posada
• Steering Committee
– ISCIII-IIER; CCAA; MSSSI; CREER; ASEBIO; AELMHU;
Farmaindustria; FEDER
• Stakeholder Forum
– All
• Scientific Committee
– María Felicitas Dominguez, Veronica Alonso, Enrique Ramalle,
Carmen Martos, Carmen Navarro, Ana García
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
WP1: Activities
• Administrative
• FIS requeriments
• Requirements arisen by partners
• ISCIII budget management
• Coordination
• WPs and tasks
• Website develoment
• Meetings and phone call coferences
• Dissemination
• ECRD; EPIRARE; WG-EUCERD-EPIRARE; VI International Congress of OD & RD;
RD-CONNECT Kick-off meeting
• National/local meetings
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
WP1: Problems
• Administrative
• Personal hiring process
• Budget
• List of members
• Coordination
• Delays in some task
• Solving discrepancies
• Encouraging participation
• Website
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
WP1: Next steps
• Administrative
• Annual memory – Before March 2013
• Constrains and limitations in some full partners side
• ISCIII budget management
• Coordination
• WPs and tasks
• Training (website use and other tools)
• Meetings and phone coferences
• Dissemination: EPIRARE-Platform; IRDiRC-WG
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es
An initiative of the International Rare Diseases Research Consortium-IRDiRC
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