European Porphyria Network (EPNET)
The European Porphyria Network (EPNET) is a functional network of specialist porphyria centres/laboratories. EPNET’s aim is to improve the lives and healthcare of porphyria patients i.e. by improving the diagnosis and treatment of these rare conditions. More information about EPNET can be found on www.porphyria.eu.
The EPNET External Quality Assessment Scheme (EPNET EQAS) covers analytical, postanalytical and clinical aspects for all porphyria-related biochemical analyses.
The EPNET EQAS includes one shipment, consisting of two sets of biological materials for porphyria analysis and corresponding feedback reports. The biological materials consist of fresh frozen urine, faeces, plasma, whole blood and pellet of red blood cells from an actual patient. The samples are sent in March stored in dry ice (as far as possible) and will be delivered by express service to all participating laboratories.
The two sample sets are to be analysed in March and in September. The sample sets are accompanied by clinical case histories and should be analysed in the routine procedures for all porphyrin analyses available at the laboratories.
Participants are asked to report the results of their analyses and a diagnosis based on these. The feedback report consists of a detailed report comparing the participating laboratory’s results with anonymized results from other laboratories, as well as advice on methods of measurements and diagnostic procedures.
Apply for participation:
EPNET registration form.docx
Download a feedback report example:
EPNET EQAS 2014 Feedback report example.pdf
Aarsand AK, Villanger JH, Støle E, Deybach JC, Marsden J, To-Figueras J, Badminton M, Elder GH, Sandberg S. Clin Chem. 2011 Nov;57(11):1514-23.
European Porphyria Registry (EPR)
The European Porphyria Registry (EPR) is a multi-centre, international, observational prospective cohort study to include all porphyrias. As a first step, the EPR is developed for patients with acute intermittent porphyria (AIP), but will with time be expanded to include all porphyrias.
Objectives of the European Porphyria Registry
Recruitment of participants
The EPR aims primarily to conduct an investigation of the natural history, efficacy of treatment regimens and actual clinical practice for people with porphyria across Europe. It also aims to improve quality of care and serve research.
EPR participants are recruited by the European Porphyria Network’s (EPNET)
porphyria centres of expertise
or by physicians with a special interest in porphyria.
Patients will be informed about the project and will in most countries, depending on local ethical laws, be asked to sign a consent form. Participants are recruited when their diagnosis is established (symptomatic or as part of predictive testing), for treatment and for follow-up.
Data will be collected during regular and emergency visits to the hospital or primaryhealth care. The registry will record data such as gender, date of birth, porphyria diagnosis, laboratory test results, symptoms and treatment. Physicians are able to enter consecutive visits for the same participant and have access to their own data.
Confidentiality and data protection
Information included in the registry is anonymous (i.e. each record will have a personal pseudonym/code), so that nobody, except the treating clinician can identify the participant. Data stored in the registry is transmitted via a secured encrypted internet system, so that nobody else using the internet can gain access to it.
The registry is located at Haukeland University Hospital, Bergen, 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, porphyria centres of expertise 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.
Approval by an EPR Steering Committee will be required, as well as local ethical approval for the specific research project when relevant.
If you are a patient
and require further information on the EPR, please contact your porphyria centre of expertise or the EPR at
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 of expertise
to find out if they are a member. If they are not, you can contact us at
The development of the EPR has been funded by NAPOS, Bergen, Norway and the Directorate General for Health & Consumers (DG SANCO), Brussels, Belgium.