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AP-HP_Porphyria_FY2011 [AP-HP_FY2011] [20103209] - 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). The objective is to provide an effective network of specialist porphyria centres in each country. EPNET contains 28 EU specialist centres that work together to develop an up-to-date approach to the management of patients and families with porphyria that conforms to uniform standards. EPNET focuses on: provision of information to patients (in their own languages) and healthcare professionals (HCPs); collection of information on safety of drugs; 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. 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 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 the EU, each of which conforms to agreed quality criteria
- improve knowledge and understanding of porphyrias by providing continually updated information to patients in their own languages, and to HCPs, on a dedicated porphyria website
- provide continuously improving, evidence-based information about selection of drugs for use in patients with acute porphyria
- improve collective knowledge of clinical manifestations and phenotypic variability of porphyrias and their complications through collection of epidemiological data to inform Public Health Authorities
- 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
-Co-ordinate collection, update and maintenance of a searchable, evidence based database for selecting drugs for acute porphyria patients
-Expand registry database to collect and analyse clinical data regarding clinical manifestations and phenotypic variability
-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, EuroGentest and others

Expected outcomes

Objective 1: to extend EPNET to all European countries
Activities and Methods: Representatives in countries where there is still not a porphyria centre will be approached through personal contacts, internet browsing or national Presidents of Associations for Clinical Chemistry affiliated to the EU federation of 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 will also be asked to complete a similar annual activity report. In countries without a specialist centre, the project will try to encourage such centres to be established.
Expected outcomes: An overview of the status of laboratory-based porphyria services in all European countries. Where services exist, each will have a feedback activity report comparing their activity to the others (as for EPNET members in the first part of the project). 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.

Objective 2: to improve diagnostic and analytical quality of specialist Porphyria centres in Europe
Activities and Methods: To establish target values for the EQAS and quality specifications (QS) for acceptable analytical and clinical quality. We will do this by assessing the literature and having discussions about what quality is necessary for diagnosis and monitoring of porphyrias. Target values and QS will be implemented in the EQAS; advice will be offered to participants not meeting the criteria.
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 expand the European porphyria registry.
Activities and methods. From 2007, the registry has been collecting incidence data and complications. In 2011 we will expand the registry (i) The minimum prevalences of each inherited porphyria in participating countries will be estimated from data held by specialist porphyria centres participating in EPNET. Each centre will return to a single centre (Bergen) only the total number of patients (not lists of individual patients) with each porphyria known to their centre. These lists will be mainly derived from laboratory records; duplication between centres will be controlled by comparing dates of birth at local/national level. (ii) The Paris database will be modified, in collaboration with MediFirst, to allow collection of additional clinical information on patients newly presenting with an attack of acute porphyria. The extended database will be validated by input of data from pilot centres (Sweden, France).
Expected outcomes: (i) Determination of the minimum prevalences of inherited porphyrias in selected countries. (ii) Expansion of database for prospective collection of clinical information about the clinical pattern of acute porphyrias.

Objective 4: to continue to improve the clinical evidence for selection of drugs for patients with acute porphyria
Activities and methods: A simplified reporting system will be used to collect information about drug usage from patients in as many EU countries as possible. A steering group for the drug database, composed of four members from different EU countries, will continually review the drug data, draft SOP and guidelines. Generic drug information will be disseminated on the Drug Database for Acute Porphyria (
Expected outcome: Additional clinical evidence to strengthen the drug data base.

EPNET target groups are patients, their families and relevant healthcare professionals in the Europe. Sylvie le Moal from the French porphyria patient association will participate to network meetings and work with the EG and network manager. Sylvie will liaise with Eurordis and with the network centres to identify patient groups in each country. A survey will be sent to patients to understand their expectations of the network.

Appropriate ethical approvals have been obtained.

Start date: 01/01/2011
End date: 01/01/2012
Duration: 12 month(s)
Current status: Finalised
Programme title: Second Programme of Community action in the Field of Health 2008-2013
EC Contribution: € 99 250,00