Epidemiological Network on Rare Diseases Research REpIER

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Epidemiological Network on Rare Diseases Research
(REpIER)

• Coordinator Manuel Posada de la Paz

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• Definition of Rare Disease in the European Union
  5 cases /10.000 inhabitants and high
  morbi-mortality
• Rare Diseases Action Plan (1999-2003)
• Orphan Drugs Regulations (1999)

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What is REpIER?

• REpIER is a thematic network of groups of
  clinicians, epidemiologists, pharmacologists,
  geneticists and experts on molecular biology who
  with the support and expertise of the Public
  Health Planning General Directorates of the
  different Health Autonomous Communities in Spain
  involved intends to move toward clinical and
  epidemiological research on Rare Diseases

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REpIER Objectives

• To develop and epidemiological and health care
  information system on RDs
• To create an interchange system of available
  scientific knowledge on RDs
• To collaborate in the creation of a Rare Diseases
  biological samples, DNA and tissues bank
• To generate hypothesis on risk factors and/or
  prognostic factors
• To collaborate with other networks involved on RD
  research
• To develop pharmaco-epidemiological research

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Autonomous Communities Participating in REpIER
(Geographical Areas)

• Castilla-La Mancha
• Cataluña
• Extremadura
• Madrid
• La Rioja
• Comunidad Valenciana

• Andalucia
• Aragón
• Asturias
• Canarias
• Cantabria

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REpIER. Composition

• 16 Groups
• 11 Autonomous Communities
• 91 profesionals
• 4 special groups
• Pharmacology (GITER)
• Rare Tumours (EASP)
• Congenital Anomalies (ECEMC)
• Biological Samples Repository (FJD)
• 11 Public Health Services

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REpIER Units and Resources

• Epidemiologists
• Statistics
• Pharmacologists
• Computer systems experts
• Teaching Departments
• Congenital Anomalies Registries
• Malignant Tumours Registries
• Clinical Genetics and Molecular Biology services
• High Performance Cytogenetics service
• DNA and other biological samples bank

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REpIER. Organization
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Development of Work

• General Programme
• Different Working groups regsitries, source of
  information, neonatal screening and quality of
  life
• Specific Programmes
• Orphan Drugs
• Congenital Anomalies
• Rare Malignant Tumours
• Biological samples Bank
• Training Plan

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General Programme

• Search and analysis of information sources
• Identification of Health Research resources
  (facilities,laboratories, etc.)
• Rare Diseases Registries
• Neonatal Screening
• Assessment of quality of life related to health
• Assessment of disease burden

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Programme on Congenital Anomalies

• Coordinated from the Congenital Anomalies
  Research Centre (CIAC)
• Objectives
• To contribute to the Rare Diseases
  epidemiological information system with the
  information from less frequent congenital
  anomalies
• Etiological research on congenital anomalies

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Malignant Tumours Programme

• Methodos of the WHO International Agency for
  Research Cancer (IARC)
• Deals with information from population tumours
  registries existing in Spain
• Objectives
• Malignant tumours which incidence is lt0,2 /
  10.000
• To identify clinical, epidemiological, prevention
  measures, specialized health care centres,
  research and information sources data

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Rare Diseases Therapeutics Research Group (GITER)

• Hospitals Pharmacy Services network coordinated
  from the University of Barcelona
• The basic objective is to guarantee a better
  knowledge about usage and distribution of orphan
  drugs in the paediatric field
• Orphan drugs registries will be used
• Analysis on availability of these drugs
• Pharmaco-economical studies
• Evaluation of therapeutic needs
• On line information system

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Programme of the Biological Samples Bank

• Developed in cooperation with the INERGEN network
• Uses the ISBER methodology
• Collaborates with the EuroBioBank (EBB) project
• Supported by an ad hoc Ethical Committee
• Collaborating with the Associations of Affected
• Objectives
• To serve as a tool to develop research on risk
  factors in Rare Diseases
• To provide valid biological material

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Training Plan

• Objectives
• Training of health professionals
• To promote interchange of knowledge and
  facilitate its transfer to the clinical research
  field
• Programmes
• Continuing training
• Specialists specific updating

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Aplicability of REPIER

• To provide basic information to the Autonomous
  Communities Health Services
• To know the prevalence, incidence and nature of
  the rare diseases
• To catalyse collaboration among AACCs
• To improve health care and quality of life
  related to health on Rare Diseases