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.
Laboratory tests: the biological diagnosis and the follow-up of porphyria patients is ensured by a specialized sector of the biochemistry laboratory which analyze the heme biosynthetic pathway intermediates (ALA, PBG, porphyrins) in urine, blood and faeces. UROS and UROD genes are also investigated in the genetic sector of the laboratory.
Research center: the laboratory specialists of the center have been invested for a long-time in the development of new therapeutic approaches in erythropoietic porphyria at our research unit (https://u1035-inserm.fr/). They have had special involvement in the development of gene therapy and, more recently, in a therapeutic pharmacological approach for Günther’s disease using a mouse model previously developed in the laboratory.
Research center: (INSERM U1035, Biotherapy of Genetic diseases, Inflammation and Cancer): https://u1035-inserm.fr/
Clinical center: National Reference Center for Rare Skin and Mucosa disorders: http://www.dermatobordeaux.fr/