Working Groups

Laboratory Working Group (WG-LA)

Chair

Aasne K. Aarsand
Norwegian Porphyria Centre,
Haukeland University Hospital

Members

  • Sharon Whatley
    Institute of Medical Genetics University Hospital of Wales
    Cardiff, Wales, UK
  • Caroline Schmitt
    French Centre of Porphyrias, Louis Mourier University Hospital
  • Jordi To-Figueras
    Hospital Clinic of the University of Barcelona
  • Sverre Sandberg
    Norwegian Porphyria Centre, Haukeland University Hospital

Corresponding members

  • Michael N. Badminton
    Cardiff, Wales, UK
  • Vicky McGuire
    Scottish Cutaneous Porphyria Service,
    Photobiology Unit Ninewells Hospital and Medical School, Dundee

Key objectives: 

WG-LA deliverables 2020-2021:

  • Develop and publish practice guidelines on diagnosing acute and cutaneous porphyrias
  • Facilitate an exchange program with the aim to provide porphyria-related diagnostic laboratory training
  • Support the International Porphyria Molecular Diagnostics Collaborative

Current projects: 

Developing best practice guidelines on diagnosing acute and cutaneous porphyrias.

Cutaneous Porphyria Working Group (WG-CP)

Chair

Michael Badminton
Cardiff – United Kingdom

Members

  • Jasmin Barman
    Triemli City Hospital, Zurich Switzerland
  • Amy Dickey
    Harvard Medical School, Boston, USA
  • Janneke Langendonk
    Erasmus MC, University Medical Center Rotterdam, The Netherlands
  • Staffan Wahlin
    Karolinska University Hospital, Stockholm, Sweden
  • Liezel Griffin (corresponding member)
    Salford Royal Hospital, Manchester, UK

Key objectives:

  • Develop consensus information on diagnosis, treatment and monitoring of cutaneous porphyrias for clinicians
  • Develop consensus information on individual cutaneous porphyrias for patients
  • Facilitate and widen access to specialist clinical porphyria services
  • Disseminate knowledge through publications, lectures, teaching and the Ipnet website

Current projects:

  • Revision of patient information leaflets
  • Updating and expanding information for professionals on the Ipnet website

Porphyria Expert Clinical Centers Working Group (WG-PECC)

Chair

David Cassiman
Metabolic Centre Leuven, Belgium

Members

  • Pauline Harper
    Karolinska University Hospital, Stockholm, Sweden
  • Maria Domenica Cappellini
    Rare Disease Center, Milan, Italy
  • Giovanna Graziadei
    Rare Disease Center, Milan, Italy
  • Chantal de Jong – Peltenburg
    Erasmus MC, University Medical Center Rotterdam, The Netherlands
  • Liz Gill
    British Porphyria Association (BPA), UK

Beginning of 2021, because of an identified need, Ipnet decided to create a transparent procedure to endorse porphyria clinical centers as “centers of expertise”, the Porphyria Expert Clinical Centers (PECC), alongside the traditional Ipnet diagnostic centers.
Three types of centers were envisaged: cutaneous PECC, acute PECC and “full” PECC (covering cutaneous and acute). The criteria that were decided on, reflect experience (duration of clinical care for porphyria patients, but also the size of the cohort of patients that is followed), the presence of multidisciplinary care and continuity of care, the availability of the necessary diagnostic and treatment modalities for the different types of porphyria, contribution to scientific progress in the field of porphyria and the endorsement by the hospital management as well as by a relevant patient organisation.
The procedure is overlooked by a newly created Ipnet Working Group (PECC WG). Several centers were endorsed meanwhile (see list of endorsed centers here). The procedure remains open all year round; the PECC WG will evaluate candidacies at least twice a year. You can apply here.

The procedure and criteria for PECC application are available here.

Porphyria Clinicians Help Group

Chair

Penelope Stein
King’s College Hospital, London, UK

Members

  • Eva Diehl-Wiesenecker
    Charité-Universitätsmedizin Berlin, Germany
  • Rebecca Karp
    Massachusetts General Hospital and Harvard Medical School, USA
  • Sverre Sandberg
    Norwegian Porphyria Centre, Haukeland University Hospital, Norway
  • Jordi To-Figueras
    Hospital Clinic of the University of Barcelona, Spain
  • Amy Yeung (Dickey)
    Massachusetts General Hospital and Harvard Medical School, USA

We offer support to clinicians looking after patients with suspected or confirmed porphyria in countries where expert advice is not available. We can help with laboratory testing, interpretation of results and management.

Please complete this webform. When we receive the form, we will contact you to arrange a consultation by email or video call.

We are unable to accept referrals directly from patients. If you are a patient, please share the information above with your doctor.

Safety of Drugs for Porphyria Patients Working Wroup (WG-DRUGS)

Chair

Janneke Langendonk
Porphyria Center Rotterdam
Erasmus MC Rotterdam, The Netherlands

Members

  • Aasne Aarsand
    Norwegian Porphyria Center, Haukeland University Hospital
    Bergen, Norway
  • Bruce Wang
    UCSF, San Francisco, USA
  • Danja Schulenburg-Brand
    Cardiff and Vale Health Board, NHS Wales, United Kingdom
  • Linda Gilleshammer
    Norwegian Porphyria Center, Haukeland University Hospital
    Bergen, Norway
  • Mark Sonderup
    Groote Schuur Hospital Cape Town, South Africa
  • Nils Wohmann
    Porphyriezentrum – Klinikum Chemnitz, Germany
  • Richard Hift
    University of KwaZulu – Natal, Durban, South Africa
  • Sander Borgsteede
    Health Base Foundation, Houten, The Netherlands
  • Magne Redkal
    Helse Bergen Hf, Norway
  • Nadezda Pejovic
    National Association of Porphyrias Serbia, Serbia

Key objectives: 

The terms of Reference for the WG:

  • Publish recommendations on drug use in the acute porphyrias and different natural history states.
  • Provide advice on drug use for specific indications/individual patients.
  • Provide an overview of different methods used to classify the safety of drugs in porphyria and their strengths and limitations.

Current projects:

  • Methodology
  • Paper on methodology
  • Database necessities

Gene Variant Classification Working Group (WG-GVC)

Chair

Michela Barbaro
Porphyria Centre Sweden, Clinical Genetic and Genomics,
Centre for Inherited Metabolic Diseases,
Karolinska University Hospital, Stockholm, Sweden

Members

  • Edith Friesema
    Porphyria Expert center Rotterdam, Erasmus MC, University Medical Center,
    Rotterdam, The Netherlands
  • Ylva Floderus
    Porphyria Centre Sweden and Centre for Inherited Metabolic Diseases, Karolinska University Hospital,
    Stockholm, Sweden
  • Elena Di Pierro
    Medicine and metabolic diseases unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico,
    Milan, Italy

Corresponding members

  • Sharon Whatley
    Cardiff Porphyria Service, Department of Medical Biochemistry and Immunology,
    University Hospital of Wales Healthcare NHS Trust,
    Cardiff, UK
  • Aasne Aarsand
    Norwegian Porphyria Centre,
    Haukeland University Hospital, Bergen, Norway
  • Carl Baravelli
    Norwegian Porphyria Centre,
    Haukeland University Hospital and Norwegian Institute of Public Health,
    Bergen, Norway
  • Leif Karlsson
    Porphyria Centre Sweden, Clinical Genetic and Genomics, Centre for Inherited Metabolic Diseases,
    Karolinska University Hospital,
    Stockholm, Sweden
  • Edyta Odnoczko
    Laboratory of Genetics in Hemostasis and Porphyria,
    Institute of Hematology and Transfusion Medicine,
    Warsaw, Poland

Key objectives:

  • Facilitate inclusion of acute porphyria gene variants into the European Porphyria Registry (EPR) Variant Database; with variant data and biochemical findings of the index case/patient.
  • Perform reviewing, assessment, and classification of acute porphyria gene variants by two expert reviewers based on standardized biochemical and the ACMG classification criteria.
  • Publish an overview on the IPNET webpage of all known acute porphyria gene variants with their ACMG classification and the evidence behind it.

Current projects:

  • HMBS variant database: collection and variant classification are ongoing.
  • CPOX and PPOX variant databases under development.