|EPNET SUMMARY OF THE 2012 REPORT|
The porphyrias are rare genetic diseases that can be chronically debilitating and life threatening, particularly affecting adults with young families who are at the start of their working life. Understanding and knowledge among general clinicians is low and there is a risk that without expert services and advice in all European countries the conditions will be under-diagnosed and inadequately treated. Porphyrias are an excellent example of a group of disorders where the limited number of patients and scarcity of relevant knowledge and expertise single them out as a distinctive domain of very high European added value. The European Porphyria Network (EPNET) ensures that scarce relevant knowledge is shared and resources combined.
Scope and objectives
Our mission is to improve the lives of porphyria patients by improving the diagnosis and treatment of these rare conditions. The objective is to provide an effective network of specialist porphyria centres in each country with a focus on: provision of information to patients in their own language and to healthcare professionals; use of external quality assessment scheme to develop quality standards for analytical quality, diagnosis and clinical advice; a web-based European Porphyria Registry (EPR) to collect data about the porphyrias to inform clinical practice and healthcare planning.
Work achieved in 2012
EPNET is a network of porphyria expert centres providing specialist testing and clinical advice on all porphyrias. The network is composed of 43 network members in 30 countries (including 5 non European countries). Centres are expected to see most of the patients in their region or country, participate in the laboratory external quality assessment scheme, attend board meetings and liaise with their national patient organisations. The network has allowed the exchange of ideas, particularly in relation to diagnostic problems, clinical management issues and preventive procedures.
EPNET provides services to patients and families: Information for each type of porphyria, in lay language, is available in 11 languages and a network for answering queries has been set-up. The public website receives many hits and generates enquiries from patients and clinicians, many of which demonstrate the continuing need for expertise and information about porphyria. EPNET has provided the platform for initial patient organisation meetings which has resulted in a porphyria patient on-line community in collaboration with Eurordis http://www.rareconnect.org/en/community/porphyria.
The European Porphyria Registry has been developed to record clinical and laboratory information about patients with acute intermittent porphyria (AIP) in Europe. It has been designed for use by individual clinicians in, or collaborating with, specialist centres to register and follow the progress of patients with AIP whether symptomatic or not. The primary objective of the registry is to better understand the natural history of AIP, evaluate the effect and clinical efficacy of different treatment modalities and facilitate clinical trials and research projects.
Strategic relevance and contribution to the health programme
Because the porphyrias are rare diseases, it is not possible to achieve our objectives on a national level. EPNET data from 2007-2009, in 11 countries, was able to show an overall incidence of new AIP cases to be 0.13 per million per year (95% confidence interval: 0.11-0.16). Collaboration between countries is therefore required to pool experience from as large a number of patients and porphyria specialists as possible.
EPNET was one of the reference network pilot projects funded in 2006 by the DG Sanco supporting the exchange of information and experience on good practice.
EPNET is now a well established European porphyria reference network. EPNET Member’s enthusiasm and momentum are key factors in demonstrating the network’s sustainability. Great effort has been spent in efficiently running, coordinating, expanding the network and establishing the European Porphyria Registry; these are powerful reasons for continuing. As the EU funding was for a limited period, it has now become essential to restructure the organisation of EPNET to be able to maintain and, where possible, to expand its activities.~
European Porphyria Registry
Objectives of the European Porphyria Registry The European Porphyria Registry (EPR) has been developed by EPNET with the aim to pool data across Europe thus improving our knowledge of these rare diseases and ultimately the lives and health of patients affected by porphyria. The primary aims of the registry are to: (1) describe the disease course, diagnosis and treatments for the porphyrias, (2) investigate the effectiveness of different treatments on the outcome of the porphyrias, (3) identify appropriate participants for future porphyria related clinical trials. How will the data be collected? Patients will be informed about the project and will in most countries, depending on local ethical laws, be asked to sign a consent form. Data will be collected during regular and emergency visits to the hospital or primary health care. The registry will record data such as your gender, date of birth, porphyria diagnosis, laboratory test results, symptoms and treatment. Ethics, confidentiality and data protection Information included in the registry is anonymous i.e. each record will have a personal code, so that nobody, except the treating clinician can identify you. Data stored in the registry is transmitted via a secured internet system, so that nobody else using the internet can gain access to it. The registry is located at Haukeland University Hospital, Bergen, Norway, and has a license from the Norwegian Data Inspectorate in accordance with the EU Data Protection Directive (reference no. 12/00657-3/1UR). In addition to the data protection, centres are required to obtain national and/or local ethical committee approval. All members of EPNET have signed a strict confidentiality agreement concerning access and the publication of data. If you are a patient and require further information on the EPR, please contact your expert centre If you are a healthcare professional working with porphyria patients and would like to start using the registry, please contact your local/national porphyria centre to find out if they are a member. If they are not, you can contact the EPR Steering Committee to request an access: firstname.lastname@example.org The EPR can be accessed on: Porphyriaregistry.org
|Porphyrias and Porphyrins Meeting, Lucerne|
Very soon, that is from Thursday, May 16th to Saturday, May 18th, 2013, the Annual Assembly of the Swiss Society of Clinical Chemistry (SSCC/SGKC) will host the International Congress of Porphyrins and Porphyrias (P&P) 2013 at the beautiful city of Lucerne located in central Switzerland.