The problem

Primary Immunodeficiency Diseases (PIDs) are rare diseases which can be studied most effectively using transnational co-operation, which would enable the maximum number of cases to be examined. Although rare, they affect around 60 000 patients across Europe. Within that total, there are more than 100 different forms of PIDs, with a further 100 expected to be identified over the next ten years. This diversity poses a considerable challenge to researchers and clinicians. In addition, the diseases are difficult to diagnose, frequently require complex treatment regimens, and the genetic basis of many of them is not known.

Overview:

EURO-POLICY-PID will promote the international collaboration needed to sustain and develop Europe’s world-leading position in research on primary immunodeficiency diseases

The project will:

• Increase our understanding of the causes of PIDs and identify novel mutations and new disease genes that are implicated in PIDs
• Provide improved knowledge on the prevalence of PIDs throughout Europe
• Establish and evaluate harmonised European guidelines for the treatment of PIDs
• Improve the awareness of PIDs among the European population

Contribution to policy development:

• Acquisition of knowledge that will assist in the implementation of the specific EU policy to accelerate the progress of research on rare diseases
• Provision of the patient data, currently lacking, that is required to develop policies supporting further
  studies of PIDs
• European harmonisation of factors relevant for
  policy development
• Guidelines that should also be useful for policy-makers developing strategies affecting other rare diseases

Project deliverables

• A new and secure internet-based patient registry and research base for PIDs – June 2005-
  June 2008
• New diagnostic guidelines for PIDs – June 2005-June 2007
• Novel treatment strategies for bacterial and fungal infections involved in immunodeficiency diseases, including application of gene therapy methods to larger numbers of patients and types of disease – June 2005-June 2008
• Multi-centre European clinical trials to validate new treatment strategies – June 2005-June 2007
• Final report – by June 2008

Dissemination

• Publication of results in peer-reviewed journals and presentations at scientific meetings –
  as required
• Collaboration with European Society for Immunodeficiencies, the International Patient Organisation and International Nursing Group for primary immunodeficiencies, and relevant national organisations – ongoing
• Residential Summer Schools providing dedicated training to physicians and nurses
• Translation and adaptation of information to reach different target groups – ongoing

Technical information

Project acronym: EURO-POLICY-PID
Project’s official full title: Policy-oriented and harmonising research activities in the field of primary immunodeficiency diseases (PIDs)
Research priority: 2.2. Public health issues, including epidemiology contributing to disease prevention and responses to emerging rare and communicable diseases, allergies, procedures for secure blood and organ donations, non-animal test methods
Specific webpage: Not available
Proposal/contract no: 006411
Start date: 01/02/2005
Kick off meeting: February 2005
Completion date: February 2008
European Commission scientific officer: Jan Paehler (jan.paehler@@ec.europa.eu)

Coordinator:
Name: Karolinska Institutet
Abbreviated name: CRC-KI
Address: Nobels väg 5, Solna, SE-171 77 Stockholm
Country: Sweden
Tel: + 46 8 585 836 51
Fax: + 46 8 585 836 50
Website: http://ki.se

Partners

Name:Institut National de la Santé et de la Recherche Médicale
Abbreviated name: INSERM
Country: France

Name: University of Freiburg
Abbreviated name: UNI-FR
Country: Germany

Name: Oxford Radcliffe Hospitals NHS Trust
Abbreviated name: ORH
Country: United Kingdom

Name: University College London
Abbreviated name: UCL
Country: United Kingdom

Name: The Children’s Memorial Health Institute
Abbreviated name: CMHI
Country: Poland

Name: University of Brescia
Abbreviated name: UNIBRE
Country: Italy