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 per year, consisting of two sets of biological materials for porphyria analysis and corresponding feedback reports. Distributed biological samples may vary, but at least one set consist of fresh frozen urine, faeces, plasma, whole blood and pellet of red blood cells from an actual patient. The samples are sent in February stored in dry ice (as far as possible) and will be delivered by express service to the participating laboratories.
The two sample sets are to be analysed in February 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:
If you are interested in participating in Epnet EQAS, please send an email to firstname.lastname@example.org
. Please report which porphyria-related analyses you perform in your laboratory, and, if applicable, which analyses you would forward to other laboratories. It would then also be of interest to know which laboratory/ies you forward samples to.
Published articlesEuropean specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program. 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, so far including patients with acute intermittent porphyria (AIP).
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.
Objectives of the European Porphyria Registry
Recruitment of participants
EPR participants are recruited by the European Porphyria Network’s (Epnet)
porphyria centres of expertise
or by physicians with a special interest in porphyria. Participants were recruited when their diagnosis was established (symptomatic or as part of predictive testing), for treatment and for follow-up.
Data for AIP patients was collected until 2019 during regular and emergency visits to the hospital or primary health care. The registry recorded data such as gender, date of birth, porphyria diagnosis, laboratory test results, symptoms and treatment. Physicians were able to enter consecutive visits for the same participant.
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.
Confidentiality and data protection
The registry is located at Haukeland University Hospital, Bergen, and originally has a license from the Norwegian Data Inspectorate in accordance with the EU Data Protection Directive (reference no. 12/00657-3/1UR). From 20.07.2018 the registry is operated in accordance with the new Norwegian Personal Data Act and the EU General Data Protection Regulation (GDPR).
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.
For further information, please 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.