Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Hôpital Antoine Béclère, Service de Pédiatrie – AP-HP
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)”.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
The progress in understanding the pathophysiology of the majority of IEM has led to the discovery of several new therapies that have made it possible to attenuate the severity of the clinical manifestations associated with many of these diseases. Our center provides the following specific treatments and interventions:
– Dietary treatment, study a news uncooked cornstach, “Glycosade” of Vitaflo Society
– Testing new devices for phototherapy such as in Crigler-Najjar disease in particular a phototherapy sheet made of woven optical fibers
– International project : the first gene therapy clinical trial for Crigler-Najjar patients is in progress for 2017 : cure Crigler-Najjar project with Genethon collaboration, France, associated with The Netherlands (Piter Bosma, Ph.D. Amsterdam), Bergame (E. d’Antiga, M.D.), Naples (N. Brunetti, M.D.).
– Testing of several diets : hyperproteic, beta-hydroxybutyrate products.
For an overview of diagnostic tests, click here.