spanish rare diseases registries research network - spainrdr institute of rare diseases research...
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Spanish Rare Diseases Registries Research Network - SpainRDR
https://spainrdr.isciii.esInstitute of Rare Diseases Research (IIER)
Instituto de Salud Carlos III
Exp: IR11/RDR-01Years: 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
• FoundationsSpainRDR - 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 Researchersand Clinicians
Patients registry
RESEARCH
Population-based registry
HEALTH PLANNING AND POLICIES
PatientsRegional Health Authorities(Autonomous Communities)
Natural history ofthe disease
Follow-up
Clinical Trials(recruitment)
Biological samples
Prevalence
Incidence
Mortality
Natural historyof the disease
SPANISH NATIONAL REGISTRY OF RARE DISEASES
IIER - ISCIII
SpainRDR - Spanish Rare Diseases Registries Research Network – https://spainrdr.isciii.es An initiative of the International Rare Diseases Research Consortium-IRDiRC
MSSSI & Autonomous Communities
• 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 Castilla-
León
• Comunidad de Madrid• Comunitat Valenciana• Región de Murcia• Junta de Comunidades de Castilla-
La Mancha• Comunidad Autónoma de
Extremadura• Comunidad Autónoma de
Andalucía• Illes Balears• Comunidad Autónoma de Canarias
MSSSI (Some units)INGESA- MSSSICREER-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 SocietiesSpanish 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 Deliverables Partner leaders End Month(s) Milestones Month
WP1 Co-ordination and management IIER
D1 Kick-off meeting IIER 2 M1 2
D2 Implementing management boards IIER 6 M2 6
D3-D7 SC /PMT and WP meetings IIER 10-18-24-30-36
D8-D10 Financial and follow-up reports IIER 12-24-36 M5-M12-M14 12-24-36
WP2 Registering activity-related methods Asturias
State of the art of the population-based RD registries
Andalucía
Inventory of RD patient registries in Spain IIER
D12 Defining a core of standardized methods Asturias 8 M3 8
D13-D15 TrainingAll Autonomous Communities
10-22-34
WP3 Data-analysis and outcomes research C. Valenciana
D16 Developing “use cases” C. Valenciana 30
D17 Common set of epidemiological estimates C. Valenciana 18
D18-D20 Implementation of statistical methods C. Valenciana 20-28-36 M11-M13-M15 20-28-36
D21 Template report C. Valenciana 34
D22Defining patient-specific outcomes registries
IIER 10 M4 10
WP4Quality assessment and ethical and legal issues
Catalunya
D23 Developing the SOPs Catalunya 12 M6 12
D24 Define the quality assessment criteria Catalunya 12 M7 12
D25 Analysis of the health registries legal framework
IIER 10
D26 Establish the appropriateness principles and National RD Registry
IIER 12
WP5 Dissemination and impact IIER
D27 Website of the network (IIER) IIER
D27Websites of the Spanish Autonomous Communities
All Autonomous Communities
D28Epidemiological data for those RD without available treatment
IIER 24
D29 e-news Bulletin 16 M10 16
D11 12
M8 12
14 M9 14
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• Differentiation Sexual Disorders (DSD); Congenital Suprarenal Hyperplasia and possibly Prader-
Willi
• Bradikinin mediated angoiaedema
• 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
• Congenital and rare aenemias
• 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
• 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
• 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
Intranet
Intranet
Intranet
Intranet
SpainRDR websites
National RD Registry www
Nationalwww
Autonomous
RD Registry
Autonomous
www
Autonomous
RD Registry
Autonomous
www
Autonomous
RD Registry
Autonomous
www
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
https://registroraras.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
• 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)
WP 1: Ethic Committee
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