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European Porphyria Network: providing better healthcare for patients and their families [APHP-EPNET_FY2012] [20113205] - Operating Grant
Mission and vision of the operating grant holder

Our mission is to improve the lives of porphyria patients by improving the diagnosis and treatment of these rare conditions. EPNET has been funded by the EU Commission (DG SANCO, PHEA programme)since 2007. The objective is to establish an effective network of specialist porphyria centres throughout the EU. Currently, EPNET consists of 28 EU specialist centres from 17 European countries that work together to develop an up-to-date approach to the management of patients and families with porphyria that conforms to uniform standards. We also have members from Australia, New Zealand, South Africa and the USA.
Evidence from the last years shows that this network and its activities have a positive effect on the quality of diagnosis, number of patients diagnosed and treatment choices (shown through the collection of data, enquiries to the drug database and external quality scheme). However, porphyria centres and/or clinical experts are still not present in all EU countries; therefore the care is not equal in all member states. An objective for 2012 will be to work with national plans, the laboratory network and the cross boundary directive to find a method to reach out to patients in countries currently outside EPNET e.g. Bulgaria, Greece, Portugal, Croatia and others.
EPNET focuses on: provision of information to patients (in their own languages) and healthcare professionals (HCPs); use of external quality assessment to develop quality standards for diagnosis and clinical advice; a web-based registry to collect data about the porphyrias to inform clinical practice and healthcare planning; dissemination of information on safety of drugs. Progress is communicated to partners through regular meetings and reports. Information on the porphyrias and drug selection is made available to patients, public health authorities and HCP`s at;

Strategic objectives and specific activities

Porphyrias are uncommon diseases for which diagnosis and treatment varies within the EU. The overall aim of EPNET is therefore to improve the quality of diagnosis and clinical management of porphyria patients.

The general objectives are to:

- increase accuracy of diagnosis; reduce delay in diagnosis and to expand specialist diagnostic and clinical centres in Europe, each of which conforms to agreed quality criteria
- improve knowledge and understanding of porphyrias by providing continually updated information and best practice guidelines to patients in their own languages, and to HCPs, on a dedicated porphyria website
- provide information about drugs (generic English version) for patients with acute porphyria.
- to further expand the European poprhyia registry to collect knowledge of clinical manifestations and their complications; access the effectiveness of current therapies; form a database for future clinical trials and research.
- promote and facilitate research into the porphyrias through EU collaboration

Therefore the main activities are:

-Coordinate the European Porphyria Network
-Host and manage the European Porphyria Network website to ensure regular updating of information for patients and healthcare professionals
-Offer training opportunities to clinicians and clinical scientists through 4-6 week attachment to an acknowledged specialist centre
-Develop and disseminate evidence-based best practice guidelines for diagnosis and treatment of porphyria
-Provide remedial support to under performing specialist laboratories identified through the External Quality Assurance Scheme to improve diagnostic testing quality
-Update the drug database
-Continuation and expansion of the European registry for the porphyrias
-Disseminate information to EPNET members, patient support groups and the wider clinical community
-Identify opportunities to contribute to related European organisations and initiatives in rare disease such as Orphanet, Eurordis, EUCERD, IRDiRC, EuroGentest and others
- develop, translate and disseminate best practice guidelines for patients, starting with recommendations for AIP.
- encourage a patient forum for exchange of best practice and support to patients, in collaboration with Eurordis

Expected outcomes

Objective 1: Continue to extend EPNET to all European countries.
Activities and Methods: Representatives in countries where there is still no porphyria centre will be approached through personal contacts, internet browsing or national Associations for Clinical Chemistry. Potential specialist centres will be asked to fill in the application form developed during the first part of this project. This form gives minimum criteria for being a specialist porphyria centre. All the existing participants in EPNET also complete a similar annual activity report. In countries without a specialist centre, the project will try to encourage centres to be established.
Expected outcomes: An overview of the status of laboratory-based porphyria services in all EU countries. Where services exist, each will have a feedback activity report comparing their activity to the others. Where requirements for being a specialist centre are not met, advice on how to move further to obtain the status will be given. All will be expected to join the EQAS for porphyria. Travel grants for 4-6 weeks stay at a specialist lab may be granted to facilitate the establishment of a new lab.
If it is not possible to set up a centre in one country we will look at the feasibility of setting up a centre for a group of countries or seek to apply the cross boundary directive.

Objective 2: To optimise diagnostic and analytical quality of porphyria centres in Europe.
Activities and Methods: Best practice guidelines for providing a specialist laboratory service are being developed and implemented through the EQAS programme.
Expected outcome: Improved performance by Specialist Laboratories, measured by recording the number of laboratories meeting QS in the EQAS, with reduction in diagnostic errors.

Objective 3: To continue the development of the EU porphyria registry.
Activities and methods. From 2007, the registry has been collecting incidence data and complications. In 2011 we are expanding the registry to pilot the prospective collection of additional clinical information, in two countries (Sweden, France) on patients with acute intermittent porphyria (AIP). In 2012, information from this pilot study will be used to inform the development of disease-specific protocols (AIP and other porphyrias) and collection of clinical data from additional countries. These protocols will provide a standard format for national registries and for a nodal European registry. Centres in participating countries will contribute data either directly to the European registry or to a national register with later transfer to the European registry.
Expected outcomes: Establishment of a network of inter-linking porphyria registries across Europe with the aims of collecting data on the natural history of porphyrias and identifying sufficient patients for future clinical trials and other studies.

Objective 4: To continue dissemination of information on drugs for patients with acute porphyria
Activities and methods: Generic drug information is disseminated on the Drug Database for Acute Porphyria (
Expected outcome: Information available for patients

Objective 5: To encourage the exchange of experience between patient groups in Europe
The network is in contact with 8 patient groups in Europe. We aim to identify new groups. In some countries where there is no centre; patients may influence policy makers, support other patients and encourage a new lab or enthusiastic clinician to join the network. The EPNET patient representative, Mrs Le Moal will liaise with Eurordis and with the network centres to identify patient groups in each country.

Start date: 01/01/2012
End date: 01/01/2013
Duration: 12 month(s)
Current status: Finalised
Programme title: Second Programme of Community action in the Field of Health 2008-2013
EC Contribution: € 94 287,00