EUROPEAN PORPHYRIA INITIATIVE (EPI): A PLATFORM TO DEVELOP A COMMON APPROACH TO THE MANAGEMENT OF PORPHYRIAS AND TO PROMOTE RESEARCH IN THE FIELD

Jean-Charles Deybach1, Mike Badminton2, Hervé Puy1, Sverre Sandberg3, Jorge Frank4, Pauline Harper5, Pavel Martasek6, Elisabeth Minder7, Samantha Parker8, Stig Thunell5 George Elder2

1 Centre Français des porphyries, Hôpital Louis Mourier, Colombes CEDEX, France; 2 Porphyria Service, Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff CF14 4XW, UK. 3 Molekulare Dermatologie, Hautklinik der RWTH Pauwelsstr. 30, 52074 Aachen; 4 Porfyricentrum Sverige, Karolinska Universitetssjukhuset, Huddinge, 141 86 Stockholm; 5 Laboratory of Porphyria metabolism, 1st medical faculty Charles University, Czech Republic; 6 Chefärztin Zentrallabor, Stadtspital Triemli, CH-8063 Zürich; 7 Orphan Europe, 92058 La Défense, France; 8 Laboratory of Clinical Biochemistry, Haukeland University Hospital, N-5021 Bergen, Norway;

Porphyrias are uncommon inherited diseases of haem biosynthesis for which the diagnosis and treatment varies in individual countries. Despite the existence of guidelines, recommended by porphyria experts, concerning the diagnosis and management of the acute porphyrias, and of specialist centres in most European countries, many clinicians still do not apply these guidelines. The European Porphyia Initiative (EPI) network was formed in 2001 in order to compare experience between countries, attempt to develop a common approach to the management of the porphyrias, particularly concerning recommendation of safe and unsafe drugs, and to facilitate international collaborative clinical and biological research.

The main achievements of EPI during this period have been:

·         Drafting and agreeing consensus protocols for the diagnosis and management of acute hepatic porphyrias

·         Creation of a multilingual website, particularly focusing on guidelines for common prescribing problems in acute porphyria and on providing information for patients that is now available in 10 languages: www.porphyria-europe.com.

EPI’s current objectives are to develop the EPI platform, expand to new countries, extend to non-acute porphyrias and design European research and clinical trials in porphyria. The project will focus on:

1.       Setting up a European laboratory external quality assurance scheme (EQAS) for biochemical and molecular investigations and their interpretation

2.       Establishing a consensus drug list in collaboration with the Nordic porphyria network

3.       Improving patient counseling.

4.       Developing large multi-centre, multi-national research projects. Due to the rareness of the porphyrias, it would be very difficult for any one country to provide this data, with a sufficient number of patients and within a reasonable timescale.

The progress achieved will facilitate improvements in treatment and the development of new therapeutic strategies. It will set a pattern for establishing, and subsequently harmonising, between countries, best clinical practice for a rare but important group of diseases, and will help to develop the optimal therapy and ensure its cost effectiveness.