Assistance Publique-Hôpitaux de Paris, Hôpital Louis-Mourier
Paris Nord Val de Seine, FRANCE
Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
- The area of expertise of the center is Porphyrias, that are disorders due to defects in Heme pathway.
- CNMR porphyria belongs to HUPNVS hospital (5 hospitals in the north of Paris and surrounding including Louis-Mourrier hospital, LM)
- The center is located in LM hospital and offers a direct comprehensive and integrative care of patients in Ile de France from the clinical, biological and molecular diagnostic to a highly specialized management based on collaborative approach.
The center offers in Louis Mourier hospital a large range of specialized consultations and hospitalizations:
- Clinical genetics
- Emergency and short hospitalization
- HGE
- Internal medicine
- Gynecology & Obstetrics
Patients cares are supported daily with CRMR Porphyrias and are based on regular multidisciplinary meeting. Beyond medical treatment and follow up in LM CNMR porphyrias, the HCP offers surgery when necessary, including liver carcinological surgery, liver transplant and offer the access to bone marrow transplant either for adults or children in Saint-Louis and Necker hospitals (in APHP but outside HUPNVS). Determination of optimal care is decided using a multidisciplinary approach.
Key features:
- The CRMR Porphyrias provides remotely expert opinion to patients and their families, and to caregivers in France and outside France by way of teleconsultation and e-mails (about 2500 requests a year).
- The continuity of care is ensured by a 24/7 on-call medical services for clinical and biological expertise on porphyria in France.
- The diagnosis of porphyrias is made by the center thanks to its expertise in highly specialized biochemical and molecular testing.
- The center is closely linked to the research unit, allowing recognition of enzymes and genes responsible for porphyrias, deciphering the pathophysiology of porphyrias and developing new treatments.
- Clinical research is pursued for new treatments in erythropoietic and hepatic porphyrias in international clinical trials.
- The center collaborates with other centers in Europe through the EPNET network (32 members in 21 countries).
- The center takes care of around 1000 patients every year directly or indirectly and has an active file of patients with various porphyria types.
- A specific national database, BAMARA, is used to gather the data of all the patients evaluated.
Specific treatments and interventions provided by the HCP
- Complete diagnosis and follow-up of patients affected either by erythropoietic or hepatic porphyrias.
- Specific examinations including geneticist, hepato-gastro-enterologist, radiologist, neurologist, dermatologist, nurse, psychologist, and social worker services.
- Information provided to patients, relatives and healthcare providers through various websites.
- Molecular genetic screening using NGS for various genes related to porphyrias.
- Biochemical testing of all metabolites and enzymes activities linked to the heme pathway using various technologies.
- Interventions in link with the CNMR Porphyrias including surgery, gynecology/obstetrics, and hematology.
- Acute care in the setting of intensive care unit.
- Palliative care is possible in the hospital but has not been necessary for patients until now.
178 rue des Renouillers, 92700 Colombes, France
