Hôpital Antoine Béclère, Service de Pédiatrie – AP-HP

Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

Our reference center was certified as a center of expertise in rare diseases by the French health ministry in 2005. It is the center which takes care of a group of rare hepatic diseases. The particularity of our center is to take care of patients from newborns to adults. The aims of our center also are to develop a network of care with adult clinical departments which are not yet familiar with these pathologies.
Beclere hospital is part of a hospital group named HUPS (Hôpitaux Universitaires Paris Sud) that belongs to APHP (Assistance Publique Hôpitaux de Paris). HUPS brings together multidisciplinary competences, including, transplantation, neurosurgery, paramedical skills, social services, rehabilitation and palliative needs of IEM patients and their families. It provides a high quality planned transition care and support from the pediatric unit to adult services (creation of own specialist adult network). Antoine-Béclère Hospital contributes to building healthcare pathways from primary care, has links with specialised laboratory testing facilities (biochemicals and diagnosis analyses).
The pediatric unit is the coordinator center dedicated to pediatric and adult metabolic hepatic hereditary diseases, mainly Glycogen storage diseases, Crigler-Najjar disease, Galactosemia, hereditary fructose intolerance.
Our center is integrated in the metabolic diseases French network named “Filière G2M” certified in 2013 by the health ministry.
Our center participated at the creation of “Plateforme d’expertise Maladies Rares Paris-Sud”. It is a member of the director committee. Pr Labrune is the co-coordinator of this “plateforme”, whose roles are to promote communication/information (on rare diseases) on a web site (www.maladiesrares-paris-sud.aphp.fr), to support research projects on these topics and to develop the relationships between professionals and patients associations.
Our reference center collaborates with patient organisations. In particular it participates in the days patient’s family (medical and paramedical interventions, diet education therapeutic programs). Our center has contributed to the elaboration of good practice guidelines (national and international) in several disease areas including GSDs, Galactosemaia, hereditary intolerance fructose, Crigler-Najjar.
Our reference center provides education and training to pre-graduate, graduate and fellows. Our reference center is part of the national and international IEM societies and regularly lectures at the SSIEM Academy educational courses.
Our reference center contributes to clinical and translational research including natural history studies, registries, feasibility studies, patient recruitment and studies on the long-term effects of new treatments (test of new devices or news diet metabolic, therapy genetic, …).
Our reference center contributes to the national registry of rare diseases “banque national de maladies rares (BNDMR)”.