Porphyria centres

*Endorsed Porphyria Expert Clinical Centers

Centre for Investigations on Porphyrins and Porphyrias (CIPYP)

 
Address
Cordoba Avenue 2351 Underfloor 1,
Buenos Aires
 
Tel: 54 011 5950 8346/7
Fax: 54 011 5950 8347
 
 
Activities
The Centre of Research on Porphyrins and Porphyrias -CIPYP was the first Institution in Latin America dedicated to the study of Heme Metabolism, porphyrias, Associated Pathologies and Photodynamic Therapy.
It was officially created 41 years before by the National Scientific and Technology Research Council-CONICET. Dr Alcira Batlle was the founder and first Director. It also depends from the University of Buenos Aires.
  • Patients: the differential biochemical diagnosis and the genetic study are carried out for all the Porphyrias. We also perform the biochemical and clinical follow up of patients and latent carriers. Genetic studies on Hereditary Hemochromatosis type I (HFE gene) are also done.
  • Farmacogenetics: Polymorphisms and associated haplotypes are analyzed in the genes of drug metabolizing system and transports which affect the bioavailability of drugs.
  • Experimental Porphyria: The effect of porphyrinogenic drugs on heme metabolism and related pathways are investigated in genetics and pharmacological models.
  • Associated Pathologies: Pathways that interconnect the carbohydrate metabolism and heme biosynthesis regulation are studied in experimental model of diabetes.

Clinical questions contact
Medical Doctor Hector Muramatsu
japolindo@gmail.com
54 011 59508346/7

Laboratory contact
Dr in Chemical Sciences Victoria Estela Parera
vparera14@gmail.com
54 011 59508346/6

NSW Porphyria Reference Laboratory

Address
Dept Clinical Biochemistry
Royal Prince Alfred Hospital
Missenden Road, Camperdown
Camperdown, NSW 2050
Australia
 
Tel: 61 2 9515 6111
Fax: 61 2 9515 7931
 

Royal Melbourne Hospital Porphyria Centre

Address
300 Grattan St, Parkville 3050 Victoria
Melbourne
 
Email: RMHporphyria@mh.org.au
Tel: 61 3 9342 7096 (lab)

Fax: 61 3 9342 7366 (for clinic referrals), 61 3 9342 9051 (lab)
 
Director
Assoc Prof Gayle Ross, Head of Dermatology Research
Gayle.ross@mh.org.au
61 3 9342 4531

Activities
The RMH Porphyria Centre is a national multidisciplinary service that provides diagnosis and clinical care for all types of Porphyria.
The state Porphyria reference laboratory is based at RMH and includes complete biochemical testing and diagnosis. Clinical services include outpatient clinics with dermatologists, metabolic physicians, biochemists, chemical pathologists, hepatologists, geneticists, haematologists and nurse support. We manage all acute and cutaneous porphyrias, including administration of haem arginate, venesection, phototherapy and have experience with givosiran and afamelanotide. We also participate in multiple clinical trials including DISC and Mitsubishi.
The Centre works in close collaboration with the Australian porphyria patient association.
 
Clinical questions contact

Assoc Prof Gayle Ross, Head of Dermatology Research
Gayle.ross@mh.org.au
61 3 9342 4531

Laboratory contact
Yoke Leong and Virginia Cronin
Yoke.leong@mh.org.au, Virginia.cronin@mh.org.au
61 3 9342 7096

Centre Belge des Porphyries

Address
LHUB-ULB
rue Haute 322
1000 Brussels

Email: frederic.cotton@lhub-ulb.be
Tel: +32 435 20 00
 
Director
Pr Frédéric Cotton
frederic.cotton@lhub-ulb.be
+32 24 35 20 20

Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The center offers all laboratory biochemical and genetic tests related to porphyria with detailed interpretation of results and patients consultation with clinical advice.
 

Clinical questions contact
Dr Tom Abrassart
tom.abrassart@hubruxelles.be
+32 24 35 20 20 / 20 00

Laboratory contact
Pr Frédéric Cotton
frederic.cotton@lhub-ulb.be
+32 24 35 20 20 / 20 00

 

Centre for Metabolic Center Leuven

 
Address
Herestraat 49
3000 Leuven
 
Tel: 003216344649
Fax: 003216345347
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
University Hospital Leuven is a large university referral center for rare diseases and a hub of European Reference Networks (ERNs). It is a reference center for diagnostics, treatment and clinical follow-up for porphyria patients. We follow a large cohort of acute porphyria patients (with expertise in liver transplantation for this indication), EPP patients and PCT patients. We participate to international registries, natural history studies and treatment trials for porphyria.
 

Clinical questions contact
Medical Doctor Hector Muramatsu
japolindo@gmail.com
54 011 59508346/7

Laboratory contact
Dr in Chemical Sciences Victoria Estela Parera
vparera14@gmail.com
54 011 59508346/6

Bulgarian Porphyria Centre

Address
15 Acad. Ivan Evst. Geshov Blvd.

 

1431 Sofia
Bulgaria

Email: sv.ivan_rilski_lvh@abv.bg
Tel: +359 2 952 29 72
 
Director
Associate Professor Aneta Ivanova
anetaivanova99@abv.bg
+359 2 952 29 72

Activities
The Bulgarian Porphyria Centre is located at University Hospital “St. Ivan Rilski” in Sofia. The Center was established in 2016 by The Bulgarian Ministry of Health and National Center of Public Health and Analyses in accordance with the Bulgarian legal and regulatory requirements.
The work of Bulgarian Porphyria Centre includes:

  • Pre-diagnostic counseling to potential carriers of porphyria
  • Pre-analytical counseling support to physicians
  • Analytical diagnostics
  • Diagnostic interpretation of laboratory tests results
  • Treatment and follow-up of patient with porphyria
  • Family studies
  • Maintenance of National Registry for patients with porphyria
  • Teaching in Medical University, Sofia
  • Research, development and publications on porphyria
  • Interaction with patients organisations
  • Participation in International Porphyria Network

EORLA

Address
501 Smyth Rd
Ottawa
Ontario K1H 8L6
Kanada
 

Tel: 613-798-5555 ext 71416
Fax: 613-737-8541
 
Director
Dr. J. Shaw
adrowan@eorla.ca
613-798-5555 ext 71416

Activities
Testing provided: Urine and Fecal Porphyrin Screening and Quantitation, Urine ALA/PBG, FEP (Free erythrocyte protoporphyrin), PBGD (Erythrocyte Porphobilinogen Deaminase)

Clinical questions contact
Dr. D. Colantonio
dcolantonio@eorla.ca
613-798-5555 ext79094

Laboratory contact
Adrienne Rowan
adrowan@eorla.ca
613-798-5555 ext 71416

Dr. John Akabutu Centre for Bleeding and Rare Blood Disorders

China (Shijiazhuang)

Porphyrias Clínic Hospital San Vicente Fundación

Address
64 street 51D154
Medellín
Colombia
 
 
Activities
We are an interdisciplinary health team with a diagnostic and therapeutic approach aimed at patients with suspected or confirmed diagnosis of hepatic porphyria, which offers a highly complex health service with quality and safety, providing personalized attention to the patient and their family during the care process. hospital and outpatient.
We offer a highly complex service through comprehensive care and support for the patient and their family.
Centre for Investigations on Porphyrins and Porphyrias (CIPYP)
 

www.kbc-zagreb.hr

Address
Kišpatićeva 12
10000 Zagreb
Croatia
Tel: +385 (1) 2367 288
Fax: +385 (1) 2367 395
Director

Prof. Dunja Rogić, PhD, EuSpLM
predstojnik.lab@kbc-zagreb.hr
+385 (1) 2367 288

Activities

  • Analysis of total and fractionated porphyrins from urine and plasma samples by high performance liquid chromatography (HPLC) method.
  • Analysis of δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) from urine samples by spectrophotometer.
  • When needed for differential diagnosis of types of porphyria, fecal porphyrin analysis by HPLC-FL and plasma-fluorescence emission scan.

(Literature: Elisabeth Irene Minder, Xiaoye Schneider-Yin. Porphyrins, Porphobilinogen and δ-Aminolevulinic Acid)

Laboratory contact
Asst Prof Mila Lovrić, PhD
mila.lovric@kbc-zagreb.hr
+385 (1) 2367 249

Porphyrin Laboratory

 
Address
UNIVERSITY HOSPITAL, ODENSE
Department of Clinical biochemistry and Pharmacology

J.B. Winsløws Vej 4
5000 Odense C
Denmark

Email: ouh.ode.biok.porfyri@rsyd.dk
Tel: + 45 29 64 77 62 or +45 23 35 10 89 (between 8-15)

Director and clinical questions contact:
Doctor, PhD, Anne Lindegaard Christiansen
anne.lindegaard@rsyd.dk
+45 24 98 97 70

Activities
For diagnose and monitoring of porphyria diseases, analyzes are performed on urine, blood and feces. Medical interpretation/advice is provided for all results.

Laboratory contact
Lab technician, Daily Manager, Julie Sørensen
julie.soerensen2@rsyd.dk
+45 23 35 10 89

Estonian Porphyria Centre

Address
Laboratory of Clinical Chemistry
North Estonia Medical Centre
19 J. Sütiste Str, 13419, Tallinn
Estonia
 
 
Activities

Porphyria Centre is a Unit of Clinical Chemistry Laboratory of North Estonia Medical Centre. The Laboratory is accredited in accordance with the EVS-EN ISO 15189:2012. The Centre provides laboratory service for the exclusion or diagnosis of acute porphyria twenty-four hours a day, seven days a week. In collaboration with the experienced clinician, the Centre ensures clinical consultations and management of symptomatic porphyria patients.

Clinical questions contact
Dr. Küllike Palk/Dr. Galina Zemtsovskaja
porphyria@regionaalhaigla.ee

Laboratory contact
Siim Iskül/Dr. Galina Zemtsovskaja
porphyria@regionaalhaigla.ee

Porphyria Research Centre, Helsinki University Hospital, Departments of Clinical Laboratory and Medicine

Address
HUSLAB
Topeliuksenkatu 32
BOX 140
00260 Helsinki
Finland
 

Director and clinical questions contact
Associate professor Raili Kauppinen, specialist of internal medicine
raili.kauppinen@hus.fi
+358405601434
 
Activities
Porphyria research centre offers services for all types of porphyria. Both biochemical analysis and clinical consultations are available for professional, and patients and their relatives. Clinical, biochemical and genetical research is ongoing.
 
Laboratory contact

Centre for Centre Français des Porphyries CRMR – Porphyries

www.porphyrie.net

Address
CHU Louis Mourier
178 rue des Renouillers
92701 COLOMBES CEDEX
France
 
Tel: +33 1 47 60 63 34
Fax: +33 1 47 60 67 03
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The CRMR – Porphyries is a clinical centre dedicated to the management of porphyria patients, from diagnosis, treatment, genetic counselling and family testing to patient follow-up.
The clinical service includes consultations and remotely expert opinion to patients and to caregivers by way of teleconsultation.
The centre has a specialized laboratory for the analysis of heme metabolism, allowing the diagnosis of the different porphyrias, as well as the follow-up of patients.
The team is also involved in the research laboratory INSERM U1149, “Heme, iron and inflammatory pathologies” located at the Xavier Bichat Faculty of Medicine (University of Paris).
The CRMR – Porphyries belongs to the G2M network, which includes all French specialists in metabolic diseases.
For all patient support actions, the clinicians of the centre work closely with the French patient organization: Association Française des Malades Atteints de Porphyries (AFMAP).
Finally, the centre participates in two European networks: the Ipnet network, which brings together all the centres specialised in the diagnosis and management of porphyrias, and the MetabERN network which represents 70 European reference centres for the management of metabolic diseases, including porphyrias.

National competence center for rare diseases “porphyrias and rare anemias”

Address
Service de biochimie, Hôpital Pellegrin, CHU de Bordeaux
PTMP 2ème étage, laboratoire de biochimie spécialisée
Place Amélie Raba Leon
F-33000 Bordeaux
France
 
Tel: +33 5 57 82 01 56
Fax: +33 5 56 79 60 20
 
Director:
Pr. Emmanuel RICHARD, MD-PhD, Professor of Biochemistry and Molecular Biology
+33 5 57 82 01 56 / +33 5 57 82 19 81
 
Activities

This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).

  • Clinical activities: at the University Hospital of Bordeaux, patients with porphyria (cutaneous, acute hepatic and erythropoietic porphyria) are managed by clinicians from different specialties (dermatology, genetic, internal medicine, gastroenterology) in close relationship with the laboratory specialists of the center. The center participates in national and international clinical trials and studies for porphyrias. 
  • Laboratory tests: Biological assessment of the heme biosynthesis pathway is carried out by the metabolic biochemistry laboratory at the Bordeaux University Hospital (National reference medical biology laboratory for heme biosynthesis anomalies). The laboratory provides expertise to analyze the heme biosynthetic pathway intermediates (ALA, PBG, porphyrins) in urine, blood and feces. The laboratory provides also molecular analysis of all genes involved in porphyria and genetic counseling for patients with porphyria and their family.
  • Research center: the clinical and laboratory specialists of the center have been invested for a long-time in the development of new therapeutic approaches in erythropoietic porphyria in our research unit (https://www.bricbordeaux.com/). We are involved in the development of gene and pharmacological therapy for erythropoietic porphyria. Our laboratory has previously developed a mouse model of Günther’s disease. Our group is also developing research projects at the interface between cancer and the heme biosynthesis pathway.
  • Clinical center: National competence center for rare diseases “porphyrias and rare anemias”.
    Department of internal medicine and clinical immunology
    Hospital Saint-André, CHU de Bordeaux
    1 rue Jean Burguet, 33075 Bordeaux cedex, France.
 

Clinical questions contact
Pr. Patrick MERCIE, MD-PhD, Head of the Department of Internal Medicine and Clinical Immunology
patrick.mercie@chu-bordeaux.fr 

Laboratory contact
Pr. Emmanuel RICHARD, MD-PhD, Head of the Department of Clinical Biochemistry
emmanuel.richard@u-bordeaux.fr / emmanuel.richard@chu-bordeaux.fr
+33 5 57 82 01 56 / +33 5 57 82 19 81

Charité Universitätsklinik Berlin

Address
Campus Benjamin Franklin
Gastroenterologie
Hindenburgdamm 30
 
Tel: +49 30 8445 0
 

Centre for Knappschaftskrankenhaus, Medizinische Klinik III

www.klinikum-vest.de 

Address
Dorstener Strasse 151,
45657 Recklinghausen
 
Tel: +49 2361 56 3301
Fax: +49 2361 56 3398
 
 
Activities
Department for hematology/oncology with possibility to treat and diagnostic porphyria. Furthermore there is an outpatient clinic for patients with porphyria.

Porphyriezentrum – Klinikum Chemnitz

www.klinikumchemnitz.de

Address
Klinikum Chemnitz gGmbH
Zentrum für Innere Medizin II
Flemmingstraße 2
09116 Chemnitz
Germany
 
Tel: +49371 333-33232 (weekday 7AM – 4PM)
Doctor on duty +49371 333 76 33692 or +49371 333 35617
Fax: +49371 333-33224
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
  • Diagnosis and Treatment of acute and not acute, hepatic and erythropoietic porphyrias
  • Care for in-and-out patients with porphyria
  • Integrated Intensive Care Unit for patients with severe attacks (hyponatremia, mechanical ventilation)
  • Liver diagnostic, biopsy (wood light), elastography, endoscopy, ultrasound, endoscopic ultrasound and operations
  • Mutational analysis in cooperation with other laboratories
    Laboratory diagnosis in cooperation with MVZ Karlsruhe
    Nutrition and lifestyle analysis with counseling
    Counseling for trigger factor elimination
    Counseling for patient´s disease understanding, explain biochemical basics on porphyrias
    Education and advanced training in diagnosis and treatment of porphyrias via special online seminars, meetings and as preceptorship
 
Treatment
  • Acute porphyrias
  • Heme therapy, Givosiran, caloric support, pain management, symptom treatment
  • PCT
  • Phlebotomy, iron depletion, low dose hydroxychloroquine
  • Hepatitis C eradication
  • EPP, XLP
  • Afamelanotid, in XLP iron substitution

Deutsches Kompetenz-Zentrum für Porphyriediagnostik und Konsultation

Address
MVZ Labor PD Dr. Volkmann und Kollegen GbR
Kriegsstr. 99
D-76133 Karlsruhe
 

Hematology Oncology Center and Ludwig Maximilians University Munich

Address
Zweibrueckenstr. 2
80331 Munich

European Porphyria Specialist Center

 
Address
Dept. of Dermatology
Moorenstrasse 5
40225 Duesseldorf
 
Tel: 049-0211-81-18327
Fax: 049-0211-81-16584
 
 
Activities
  • Total Porphyrins in Urine, Erythrocytes, Plasma, Stool und Dialysate
  • Porphyrin-Precursors (ALA und PBG) in Urine
  • HPLC in Urin, Stool, Plasma, Erythrocytes und Dialysate including Isomeren I und  III-separation
  • Fluoreszenzspectrometical analysis in Erythrocytes und Plasma to differentiate between the porphyria-diseases
  • Familiy diagnostic
    • Enzymatic activities in Erythrocytes/Lymphocytes:
      URO-I-Synthase in Erythrocytes (Uroporphyrinogen-I-Synthase)
    • URO-I-Synthase in Lymphocytes (Uroporphyrinogen-I-Synthase)
    • URO-D (Uroporphyrinogen-Decarboxylase)
    • FECH (Ferrochelatase)
    • ALA-Dehydratase (Aminolaevulinic-acid-Dehydratase)


Clinical questions contact
Kerstin Ling
049-0211-81-18327

Laboratory contact
Viola Kürten
049-0211-81-18327

National Porphyria Centre

Address
Central Hospital of Northern Pest – Military Hospital
Robert Karoly krt. 44
H-1134 BUDAPEST
 
Tel: +36 1 4651800 / 71-906

St James’s Hospital

Address
James’s St
Dublin 8
 
Tel: +353 1 4162058
Fax: 003216345347
 
 
Activities
Biochemical analysis include Quantitation of ALA, and PBG.
Urine and faecal Porphyrins by HPLC with separation of isomers.
Erythrocyte Protoporphyrins and plasma scans.
Genetic analysis include HMBS, URO-D,CPOX,PPOX and FECH.
The laboratory provides detailed interpretations of these results with expert comments and conclusions. The laboratory takes part in the Royal College of pathologists of Australasia quality Assurance Programs ( RCPA-EQA), International Porphyria Network( Ipnet) external quality Assessment scheme (EQAS) and European molecular genetics.
Quality Network Clinical: Out-patient and in-patient consultation and clinical liaison with external clinical teams.
 

Clinical questions contact
Medical Doctor Hector Muramatsu
japolindo@gmail.com
54 011 59508346/7

Laboratory contact
Dr in Chemical Sciences Victoria Estela Parera
vparera14@gmail.com
54 011 59508346/6

National Service for the Biochemical Diagnoses of Porphyriar

 
Address
Rabin Medical Center,
Beilinson Hospital,
39 Jabotinski St
4941492 Petach Tikva
 
Tel: +972-3-9377710
Fax: +972-3-9377768
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The activities of The Israeli National Service for the Biochemical Diagnoses of Porphyrias includes diagnosis of all types of porphyria from all over the country and serves all the hospitals and health insurance companies in Israel and the IDF.
The center performs lab tests for urinary ALA and PBG, Porphyrin levels in urine, stool plasma and erythrocytes, as well as enzymatic tests. All of which enable the diagnosis of all types of porphyria –the acute ones (ADP,AIP, VP, HCP)- in acute and silent phases, and the chronic ones(EPP, PCT, CEP). In addition, a porphyria clinic is attached to the lab, and diagnosed patients are being followed up. They and their physicians can get advised by a porphyria specialist clinician as well.
Being located in a big medical center, enables the lab and the clinic to be in touch with experts from other disciplines (Dermatologists, pediatricians, psychiatrists, geneticists and others) if needed.
 

Clinical questions contact
Dr Yonatan Edel
yonatanad@clalit.org.il
972-3452622

Laboratory contact
Dr Sharon Cohen
Sharonco1@clalit.org.il
972-507101920

Rare Diseases Center

www.policlinico.mi.it 

Address
Fondazione IRCCS Ca’ Granda
Ospedale Maggiore Policlinico
Via F. Sforza 35
20122 Milano
 
Tel: +390255033493
Fax: +390255033665
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The center is recognized at national level for the diagnosis and care of patients affected by all forms of porphyria.
It offers an outpatient service for first visits and follow up and, a day hospital service for administration of treatments. The clinical activity is supported for blood tests by the central analysis laboratory with a toxicology section specialized in the biochemical diagnosis of porphyria.
The genetic analysis is instead performed in the laboratory for the diagnosis and care of rare diseases directly related to the center. This laboratory also carries out research activity on the variability of the clinical expression of the disease taking into consideration the phenotype-genotype relationship and the co-inheritance with modifier genes.
The center actively participates in clinical trials for the development of new therapies.
 

Clinical questions contact
Giovanna Graziadei, MD Specialist in Internal Medicine and Hematology
giovanna.graziadei@policlinico.mi.it
+390255033297

Laboratory contact
Elena Di Pierro, PhD in Molecular Medicine
elena.dipierro@unimi.it
+390255036155

Center for Diagnosis and Management of Porphyrias

Address
Internal Medicine Unit
University Hospital Policlinico of Modena
Via del Pozzo 71
41124 Modena
 
Tel: +39 059 4225542
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
  • Our center diagnoses and manages all kind of Porphyrias. Management of patients may be through a dedicated outpatient clinic. Moreover, in case of acute attacks or acute events, we may recover the patients for urgent treatments in our internal medicine unit.
  • Our center is now involved in many international experimental and epidemiological studies about porphyrias and in the organization of many different national and international meetings regarding porphyrias.
 

Laboratory contact
Dr. Stefano Marchini
stefano.marchini@unimore.it
+39 059 4223057

Porphyria and rare diseases centre

www.ifo.it 

Address
ISTITUTI FISIOTERAPICI OSPITALIERI, IRCCS
Via Elio Chianesi
53 – 00144 Rome, Italy
 
Tel: 06 5266 5982
Fax: 06 5266 2822
 
 
Activities
The Porphyria Centre of Rome offers diagnosis and treatment of all type of porphyrias, in collaboration with clinicians specialized in different fields. A dedicated porphyria laboratory offers full diagnostic service including biochemical classification of all type of porphyria and genetic identification of mutations. It participates to different clinical trials. Both clinical and laboratory qualified staff offer expert advice to physicians, health care professionals, patients and families.
 

Clinical questions contact
Dr. Luca Barbieri, Dr. Miriam Teoli
luca.barbieri@ifo.it, miriam.teoli@ifo.it
0652662024, 0652662825

Laboratory contact
Dr. Michele De Canio, Dr. Caterina Aurizi
michele.decanio@ifo.it, caterina.aurizi@ifo.it
0652662820, 0652662819

Interregional Reference Center for the prevention, surveillance, diagnosis and treatment of porphyria

Address
Viale Cappuccini, 1
71013 San Giovanni Rotondo (Foggia)
Italy
 
Tel: +39 0882 410477-293
Fax: +39 0882 410944-208
 
Director and clinical questions contact
Dr.ssa Annalisa Crisetti
+39 0882 410477-293
 
Activities
  • Ambulatory medical examination and subsequent checks Biochemical tests such as ALA, PBG, Total and fractioned porphyrins, Faecal porphyrins, Plasma fluorescence test
  • Genetic tests: HMBS, UROD, UROS, CPOX, PPOX, FECH
  • Specific therapy for acute porphyria (hemin) and salassotherapy
  • Eligibility for use of afamelanotide (Scenesse)
  • Issue of certification of illness and treatment plans
  • Hospitalization
  • Connection with specialist figures from the entire hospital structure for optimal classification of the patient (dedicated multi-specialist team)
  • Founding center of the GrIP (Italian Group of Porphyria)
  • Venue of “Friends of Porphyria” Association – San Pio da Pietrelcina – ONLUS

Porphyria Center Rotterdam – Erasmus MC

www.erasmusmc.nl

Address
Wytemaweg 80
Nc-507
3015 CN Rotterdam
The Netherlands
 
Tel: +31 10 7035415
Fax: +31 10 7041805
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The Porphyria Center Rotterdam in the Erasmus MC has many years of experience in treating people with all kinds of porphyrias. There are different types of porphyria, the most common being erythropoietic protoporphyria, Porphyria Cutanea Tarda and acute porphyria. Our centre is the only centre recognized in the Netherlands, recognition is given by the ministry, following a recommendation by the NFU (Dutch Federation of University Hospitals).
The laboratory is certified for all determinations performed in blood, urine and stool. These results are used to diagnose porphyria. The laboratory can also determine the genetic predisposition. Our team consists of metabolic consultants, geneticists, paediatrics, nurse practitioners, outpatient clinic co-workers, and laboratory specialists. Our medical doctors work in the department of internal medicine and are specialized in inherited metabolic diseases, including porphyria.
Family counseling is performed together with geneticists; information on disease-related risks and treatment options are provided. Patients can visit our outpatient clinic, in the department of internal medicine, for medical checks, research and treatment of porphyria. Some treatments take place at the infusion centre and patients who are admitted to the Erasmus MC will stay at the clinical department of internal medicine.
Our nurse practitioners can be contacted via stofwissselingsziekten@erasmusmc.nl
 

Clinical questions contact
Dr. Luca Barbieri, Dr. Miriam Teoli
luca.barbieri@ifo.it, miriam.teoli@ifo.it
0652662024, 0652662825

Laboratory contact
E.C.H. Friesema, PhD
lab.porfyrie.centrum@erasmusmc.nl,
e.friesema@erasmusmc.nl
+31 10 7035415

Isala Clinics

www.isala.nl

Address
Dr. Van Heesweg 2
8025 AB Zwolle
 
Tel: Office hours: + 31-88-6243350 / Outside office hours: + 31-88-6245000
 
Activities
  • Outpatient clinic for patients with all kinds of porphyria
  • Department of internal medicine to treat acute porphyria, 24 hour availability
  • Biochemical analysis is provided by the Porphyria Center Rotterdam, The Netherlands

Norwegian Porphyria Centre (NAPOS)

 
Address
Haukeland University Hospital
Department of Medical Biochemistry and Pharmacology
Post Office​ Box 1400
NO-5021 Bergen
Norway
 
Tel: +47 55 97 31 70
 
 
Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The Norwegian Porphyria Centre (NAPOS) is located at Helse Bergen HF, Haukeland University Hospital (HUS) in Bergen, Norway.
NAPOS is the national service for porphyria patients in Norway and offers a broad range of services. This includes specialised laboratory services (advanced biochemical and genetic diagnostic tests), guidelines on diagnosis, treatment and follow-up, clinical advice for individual patients, specialised drug information service, genetic and lifestyle counselling and aid when applying for benefits and other social services. NAPOS hosts the Norwegian Porphyria Registry, a national medical quality registry, and the European Porphyria Registry (EPR).
NAPOS provides extensive information for both patients and healthcare professionals at www.napos.no, sending out frequent newsletters with updates and relevant information. Yearly training courses for healthcare professionals, patients and their families are offered. NAPOS runs the Ipnet External Quality Assessment Scheme for porphyrias, which aims to improve diagnostic testing quality and has participation from 37 specialist porphyria laboratories worldwide, and the Drug Database for Acute Porphyria (www.drugs-porphyria.org).
NAPOS is also a member of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).

Institute of Hematology and Transfusion Medicine

Address
14 I. Gandhi Str.
02-776 Warsaw
 
Tel: +48223496157 or +48223496158 or +48223496481
Fax: +48223496213
 
 
Activities
Department of Disorders of Hemostasis and Internal Medicine together with the Laboratory of Porphyria of Department of Hemostasis and Metabolic Diseases offers full diagnostics of porphyria, treats patients with porphyria and provides a comprehensive clinical and analytical advisory service.
The Laboratory of Porphyria provides highly specialized medical services in the field of diagnosis and differentiation of all types of porphyria during the symptomatic period of the disease. The Laboratory performs quantitative determinations of precursors, porphyrins and their isomers in urine, faeces, plasma and whole blood using ion exchange chromatography, fluorimetry and HPLC.
The Laboratory also diagnoses members of family with porphyria to detect asymptomatic carriers of the defective gene and maintains a national database of patients and their family members.
The Laboratory of Porphyria participates in the International Porphyria Network Network External Qality Assessment Scheme (Ipnet EQAS).
 

Clinical questions contact
Prof. dr hab. n. med. Jerzy Windyga
Dr n. med. Robert Wasileski
jwindyga@ihit.waw.pl, sekretariatkzh@ihit.waw.pl
+48223496157, +48223496105

Laboratory contact
Prof. dr hab. n. med. Jerzy Windyga
Dr n. med. Agnieszka Lipniacka
jwindyga@ihit.waw.pl, sekretariatkzh@ihit.waw.pl
+48223496157, +48223496617

UCT Porphyria Labs

 
Address
K-floor, Old GSH Main Building,
Groote Schuur Drive, Observatory,
Cape Town 7925, South Africa
 
Tel: 021 406 6332
 
Activities
Laboratory diagnosis of the porphyrias – qualitative and quantitative porphyrin and precursor (ALA&PBG) analyses. Genetic screening for the common variegate porphyria-associated mutation in South Africa (R59W PPOX mutation), and common genetic haemochromatosis genes. Biochemical interpretation of porphyrin excretory profiles.
Clinical service to porphyria patients, inpatient and outpatient – hospital management of porphyria acute attacks, monitoring and assessment of porphyria clinical activity in patients via outpatient clinic (run through the Clinical Hepatology Division at GSH-UCT).
Porphyria information service for patients, their families and doctors, including drug safety advice.

Hospital Clinic-University of Barcelona

 
Address
Villarroel 170
08036 BARCELONA
 

Tel: 932275400
Fax: 932275400

Director
Josep Mª Campistol 

Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The Porphyria Centre of Barcelona is located within the Hospital Clinic of the University of Barcelona. It accepts patients and it offers treatment of all type of porphyrias in coordination with dermatology, hematology, internal medicine and emergency Hospital units.

The porphyria laboratory (biomedical diagnostic centre) offers full diagnostic and testing services including biochemical classification of all type of porphyria and genetic identification of mutations. It receives internal and external samples.
Both clinical and laboratory qualified staff offer expert advice to physicians, health care professionals, patients and families.

Clinica Universidad de Navarra

www.cun.es 

Address
Calle Marquesado de Santa Marta, 1.
28027 Madrid

Director and clinical questions contact
Delia D’Avola
ddavola@unav.es
+34 913 531920 (7526)

Activities
Please note that our center (Clinica Universidad de Navarra) has currently 2 locations (Pamplona and Madrid). The lab is located in Pamplona but the clinics for patients are located both in Madrid and Pamplona.

  • Diagnosis and treatment of patients with acute and cutaneous poprhyrias
  • Laboratory tests related to porphyrias
  • Genetic counseling for families with porphyrias

Clinica Universidad de Navarra have professionals specialized in diagnosis and treatment of porphyrias, at both locations, Pamplona and Madrid.

Clinica Universidad de Navarra

www.cun.es 

Address
Avenida Pio XII, 36.
31008 Pamplona

Director and clinical questions contact
Delia D’Avola
ddavola@unav.es
+34 948 255400 (7526)

Activities
Please note that our center (Clinica Universidad de Navarra) has currently 2 locations (Pamplona and Madrid). The lab is located in Pamplona but the clinics for patients are located both in Madrid and Pamplona.

  • Diagnosis and treatment of patients with acute and cutaneous poprhyrias.
  • Laboratory tests related to porphyrias.
  • Genetic counseling for families with porphyrias.
  • Clinica Universidad de Navarra have professionals specialized in diagnosis and treatment of porphyrias, at both locations, Pamplona and Madrid.

Porphyria Centre Sweden

www.karolinska.se/porfyricentrum

Address
CMMS L7:05
Karolinska University Hospital
SE-17176 Stockholm

Director and clinical questions contact
Eliane Sardh, MD, PhD, Senior consultant physician
eliane.sardh@regionstockholm.se
+46 8 12370000 and +46 70 0039878

Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
Porphyria Centre Sweden at the Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital is a national centre of expertise for porphyria diagnostics, providing advice on the treatment and follow-up of these diseases.
The Centre has a complete assortment of analyses for investigation of all porphyria diseases and porphyrin metabolic disorders, including molecular biology techniques. The laboratory is accredited in accordance with SS-EN ISO 15189:2012 by The Swedish Board for Accreditation and Conformity Assessment. The Centre has 40 years’ experience in monitoring treatment of porphyria patients and in daily counseling services and keeps an authorized computerized national register of Swedish patients with secured porphyria diagnosis.
The Centre works in close collaboration with the Swedish porphyria patient association.
The staff consists of medical laboratory technologists, chemists, molecular biologists, secretary and physicians. Part of the staff is affiliated to the Karolinska Institutet participating in teaching and research. National programs for patient care are elaborated. Information about acute and cutaneous porphyrias for health care professionals provided by The National Board of Health and Welfare are authored, as also different porphyria chapters in medical textbooks.
The Centre is involved in national and international research programs and in international clinical trials for treatment of acute hepatic porphyrias. Porphyria Centre Sweden is part of MetabERN.

Swiss Reference Center for Porphyrias

www.stadt-zuerich.ch

Address
Stadtspital Zürich, Triemli
Birmensdorferstrasse 497
CH-8063, Zürich, Switzerland

Director and clinical questions contact
Dr. med. Anna Minder, MD
anna.minder@stadtspital.ch
+41 44 416 32 52

Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
Porphyria Centre Sweden at the Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital is a national centre of expertise for porphyria diagnostics, providing advice on the treatment and follow-up of these diseases.
The Centre has a complete assortment of analyses for investigation of all porphyria diseases and porphyrin metabolic disorders, including molecular biology techniques. The laboratory is accredited in accordance with SS-EN ISO 15189:2012 by The Swedish Board for Accreditation and Conformity Assessment. The Centre has 40 years’ experience in monitoring treatment of porphyria patients and in daily counseling services and keeps an authorized computerized national register of Swedish patients with secured porphyria diagnosis.
The Centre works in close collaboration with the Swedish porphyria patient association.
The staff consists of medical laboratory technologists, chemists, molecular biologists, secretary and physicians. Part of the staff is affiliated to the Karolinska Institutet participating in teaching and research. National programs for patient care are elaborated. Information about acute and cutaneous porphyrias for health care professionals provided by The National Board of Health and Welfare are authored, as also different porphyria chapters in medical textbooks.
The Centre is involved in national and international research programs and in international clinical trials for treatment of acute hepatic porphyrias. Porphyria Centre Sweden is part of MetabERN.

Laboratory contact
PD Dr. Jasmin Barman-Aksözen
porphyrie.labor@stadtspital.ch
+41 44 416 656 40 (emergency contact)

Maltepe University Hospitals, Internal Medicine Department

www.porfiriturkiye.org

Address
Bağlarbaşı, Sakızağacı Sk,
Maltepe University Hospitals,
Maltepe, Istanbul, Turkey

Director and clinical questions contact
Prof. Dr. Gülbüz Sezgin
gulbuzsezgin@maltepe.edu.tr
+90 5325078083

Activities
More than 60 Porphyria patients, follow up, hospital impatient clinics with laboratory and genetic testing.

Laboratory contact
Ayli Heydari
ayliheydari@gmail.com
+90 5365503093

Bedford Hospital Porphyria Service

www.bedfordshirehospitals.nhs.uk

Address
Clinical Biochemistry
Bedford Hospital
Bedfordshire Hospitals NHS Foundation Trust
Kempston Road
Bedford MK42 9DJ

Director and clinical questions contact
Dr WS Wassif
ws.wassif@bedfordhospital.nhs.uk
44 01234 792167

Activities
The Porphyria Centre based at Bedford Hospital provides a specialist analytical, diagnostic, interpretive and advisory service to laboratories across the United Kingdom on the diagnosis and management of all types of acute and cutaneous porphyrias.

The centre provides comprehensive biochemical analysis for all porphyric disorders, including quantitation of urinary ALA and PBG, urine and faecal Porphyrins by HPLC with separation of isomers, erythrocyte protoporphyrins, erythrocyte hydroxymethylbilane synthase (HMBS) activity as well as plasma fluorescence emission spectroscopy.
The laboratory service is fully accredited by UKAS to ISO15189 and participates in a range of External Quality Assurance schemes (both for analytical and clinical/interpretative purposes), namely the Wales External Quality Assurance (WEQAS), the Royal College of Pathologists of Australasia (RCPA) and Ipnet Porphyrin Schemes.
 

Laboratory contact
James Sheffield
james.sheffield@bedfordhospital.nhs.uk
44 01234 792166

King’s College Hospital NHS Foundation Trust

www.kch.nhs.uk

Address
Denmark Hill
London

Director 
Professor David Rees, Dr Penelope Stein
david.rees2@nhs.net, p.stein@nhs.net
020 3299 5776

Activities
We provide one of the largest porphyria services in the UK. We provide testing for adults and children with all forms of porphyria, however the service we offer has a particular focus on the acute porphyrias (acute intermittent porphyria, variegate porphyria and hereditary coproporphyria).

We are one of two providers of the National Acute Porphyria Service (NAPS), a highly specialised service developed to support patients who are severely affected by acute porphyria. We work closely with our partners in Cardiff and Vale University Health Board providing immediate support for all patients who have an acute attack of porphyria in England, Scotland or Wales.
The service also enables rapid advice to be given to clinicians looking after people with acute symptoms. NAPS also provides specialist advice on the management of recurrent attacks. We arrange specialist follow up outpatient clinics at either a national porphyria centre or one of our outreach centres. Patients with confirmed porphyria are offered long-term follow up and this includes monitoring for complications such as kidney or liver problems.
NAPS supplies heme arginate to hospitals across the UK for patients having acute attacks plus it overseas the homecare service for patients having prophylactic heme arginate at home.
 
Clinical questions contact

Porphyria Nurses
Kch-tr.porphyriaclinic@nhs.net
020 3299 5776

Laboratory contact
Oliver Rayner, Principal Clinical Scientist
oliver.rayner@nhs.net
020 3299 3856

Cutaneous Porphyria Service, St. John’s Institute of Dermatology

Address
Cutaneous Porphyria Service,
St. John’s Institute of Dermatology,
Guy’s and St Thomas’ Hospitals NHS Foundation Trust

Director and clinical questions contact
Dr. Robert Sarkany, Dr. Hiva Fassihi, Consultant Dermatologists
Robert.sarkany@gstt.nhs.uk, hiva.fassihi@gstt.nhs.uk
020 7188 6248

Activities
We provide the largest clinical multidisciplinary service for cutaneous porphyrias in the UK, staffed by a group of Dermatologists specialising in the Cutaneous Porphyrias and in Photodermatology. We provide specialised care for over 100 patients suffering from EPP, as well as looking after patients suffering from PCT, CEP, cutaneous complications of VP, and other rarer cutaneous porphyrias. We provide liver fibroscanning tests for patients with porphyrias which may involve the liver and have a Multidisciplinary Cutaneous Porphyria service with the Hepatologists from the Liver Unit at King’s College Hospital. Diagnostic laboratory based porphyrin testing is provided by the nearby specialised Porphyrin Diagnostics Service at King’s College Hospital.

We are also involved in clinical trials and other clinical research in the cutaneous porphyrias.
 

Clinical questions contact
Porphyria Nurses
Kch-tr.porphyriaclinic@nhs.net
020 3299 5776

Laboratory contact
King’s College Hospital Porphyrin Laboratory do our laboratory biochemical and genetic investigations.

Salford Royal NHS Foundation Trust

Address
Stott Lane, Salford
Greater Manchester, M30 8HD

Director
Dr Liezel Griffin, Dermatologist (Cutaneous Porphyrias)
Dr Denise Darby, Chemical Pathology & Metabolic Medicine (Acute Hepatic Porphyrias)
Prof Lesley Rhodes, Dermatology & Photobiology (Photobiology/Photosensitivity)
+44 161 206 8015

Activities
The supra-regional Porphyria Service at Salford Royal NHS Foundation Trust, Greater Manchester, is well established in providing long-term care for both cutaneous and acute hepatic porphyria patients. We provide a diagnostic service through our on-site accredited Porphyria Reference Laboratory and participate in National Acute Porphyria Service (NAPS) outreach clinics. Patients receive genetics counselling through liaison with the Clinical Genetics service at St Mary’s Hospital, Manchester, or their local Genetics service.
There is a strong research facility for erythropoietic protoporphyria (EPP) through the Photobiology Unit (PBU), led by Professor Lesley Rhodes. We are the United Kingdom National Coordinating Centre for the Phase 3 Clinical Trial MT-7117- G01 investigating a new oral agent for the treatment of erythropoietic protoporphyria (EPP) and the MT-7117-A301 extension study. We are also involved in mechanistic research with other photoprotective agents, and in studies of the impact of EPP on patients’ lives.
Professor Rhodes is Clinical Expert in the ongoing approval application of Scenesse® (afamelanotide) for treating EPP patients in the United Kingdom through the National Institute for Health and Care Excellence (NICE).
We are members of the British & Irish Porphyria Network (BIpnet) and have close links with the British Porphyria Association (BPA) patient organization. Dr Liezel Griffin is a corresponding member of the International Porphyria Network (Ipnet) Working Group for the Cutaneous Porphyrias. Professor Rhodes is on the board of the European Society for Photodermatology (ESPD), and advisor to the UK government on effects of non-ionising radiation (including visible light) on health as member of the Committee on Medical Aspects of Radiation in the Environment (COMARE).

Clinical questions contact
Cutaneous Porphyrias: Dr Liezel Griffin
liezel.griffin@nca.nhs.uk
+44 161 206 8015

Acute Porphyrias: Dr. Denise Darby
denise.darby@nca.nhs.uk
+44 161 206 8015

Laboratory contact
Dr. Denise Darby
denise.darby@nca.nhs.uk
+44 161 206 8015

Cardiff Porphyria Service

www.cardiff-porphyria.org

Address
Department of Medical Biochemistry
University Hospital of Wales
Heath Park
Cardiff, CF14 4XW

Director and clinical questions contact 
Dr Danja Schulenburg-Brand
danja.schulenburg-brand@wales.nhs.uk
00 44 (0) 29 21846588

Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The Cardiff Porphyria Service specialises in the diagnosis and treatment of all types of acute and cutaneous porphyrias. We provide a comprehensive service for both clinicians and their patients by offering:

  • Multidisciplinary clinical advice
  • Routine laboratory diagnosis
Cardiff is one of two nationally designated centres for patients with active acute porphyria and also provides safe drug information and advice in conjunction with the Welsh Medicines Information Service. Cutaneous porphyria patients are seen in the Dermatology Department together with Dr James Powell, Consultant Dermatologist.
The service also initiates and participates in research into the porphyrias and has strong collaborative links with our European colleagues.
 

Laboratory contact
Ms Lucy Bentley (Biochemistry), Ms Michelle Wood (Historic genetic results or enquiries)
Lucy.Bentley@wales.nhs.uk, Michelle.Wood@wales.nhs.uk
00 44 (0)2921 84 6588 (Clinical enquiries)
00 44 (0)2921 84 3565 (Biochemistry laboratory enquiries)

Cardiff Porphyria Service

scps.scot.nhs.uk

Address
The Photobiology Unit
Level 8 Ninewells Hospital and Medical School
Dundee DD1 9SY

Director
Dr Ewan Eadie
ewan.eadie@nhs.scot
+44 1382 740074 x33894

Activities
This centre has been endorsed by Ipnet as a Porphyria Expert Clinical Centre (PECC).
The Scottish Cutaneous Porphyria Service (SCPS) is part of the Scottish Photobiology Service and is committed to providing a prompt and clinically appropriate analytical, diagnostic, interpretive and advisory service for the diagnosis and management of cutaneous porphyrias.
The SCPS is dedicated to the diagnosis and monitoring of cutaneous porphyrias in Scotland and offers a complete examination program for the diagnosis of cutaneous porphyrias, including plasma and blood cell screening, quantification of total porphyrin levels in blood, urine and stool samples, and porphyrin profiling by HPLC.

Clinical questions contact
Dr Robert Dawe
robert.dawe@nhs.scot
+ 44 1382 660111 Ext: 33501

Vicky Mcguire
vicky.mcguire@nhs.scot
+ 44 1382 740074 Ext: 34409

Michigan Medicine- University of Michigan
Hematology Clinic

Address
1500 E Medical Center Dr, SPC 5911
Ann Arbor MI 48109-5911, USA

Director
Samuel M. Silver, MD, PhD, FRCP
Internal Medicine, Hematology/Oncology
msilver@umich.edu
01-734-764-2204

Activities
Diagnosis and treatment (including clinical trials) of the porphyrias.

Center of Excellence in Liver and Metabolic Disorders

Address 
Atrium Wake Forest Baptist Health and Wake Forest University School of Medicine
1 Medical Center Blvd
Winston-Salem
NC, 27157, USA

Director
Professor Herbert L. Bonkovsky, MD
hbonkovs@wakehealth.edu
336 713 7341

Activities
We have over 50 years of experience in all aspects of disorders of porphyrin and heme metabolism, and we continue to see patients and families with all types of porphyria.
Dr. Bonkovsky and his team over many years carried out both basic science and clinical studies in diverse aspects of the porphyrias, especially in AIP, PCT, and EPP. He was the first person to purify heme for human use and to administer it as treatment for the acute hepatic porphyrias.
We also have been involved in all recent clinical trials of givosiran for acute hepatic porphyrias and afamelanotide and dersimelagon for EPP and XLP.
Our team currently includes two physicians, Drs. Bonkovsky and Rudnick, a physician assistant, Mrs. Moore, and 3 clinical research coordinators, Mrs. Faust, Grice, and Patino.

Clinical questions contact
Denise Faust, Senior Project Manager
delannin@wakehealth.edu
1-336-713-1442

Laboratory contact
Herbert L. Bonkovsky, MD
hbonkovs@wakehealth.edu
1-336-713-7341

Porphyria Center, University of Texas Medical Branch

Address
301 University Boulevard
77555-1109, Galveston
Texas, USA
 

Tel: 409-772-4661