Assistance Publique Hôpitaux de Paris – University Hospital Robert-Debré


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

APHP-Robert Debré has 475 beds. It provides emergency consultations for 80,000 patients and has over 3,000 births per year. More than half of Paris region kidney transplants are performed in our Hospital. Specialized medical activities are closely linked with research with 20 centres for rare diseases and a research centre dedicated to research in child Health (DHU Protect). Our IMD expertise centre sees over 450 patients with just under 90 yearly new diagnoses. APHP-Robert Debré collaborates with other national IMD centres and has been central in the establishment of the IMD national network “Filière de santé maladies rares”. APHP-Robert Debré will contribute to MetabERN for:
Expertise in multidisciplinary care: APHP-Robert Debré groups together specialized paediatric services including metabolism, child neurology, clinical genetics, gastroenterology, cardiology, nephrology, endocrinology and hematology-oncology. This multidisciplinary approach also includes dietitians, social services, rehabilitation and palliative needs of IMD patients and their families. It provides a high quality planned transition care and support programme from the paediatric unit to adult services: neurometabolic unit led by Dr. Fanny Mochel. APHP-Robert Debré has implemented an IMD-oriented patient educational programme. APHP-Robert Debré has also contributed to the development of accessible information adapted to the specific needs of patients and their family. The centre actively works with IMD patient groups.
Specialized laboratory facilities and early diagnosis: The multi-disciplinary metabolic team, biochemists and geneticists actively collaborates to ensure early diagnoses.
Good practice guidelines: APHP-Robert Debré has contributed to the elaboration of national and international good practice guidelines in several IMDs.
Education and training: activities include training for undergraduate, graduate and fellows. Manuel Schiff contributes to the metabolic DU at Paris Descartes University and to the North American Metabolic Academy (NAMA) teaching course. APHP-Robert Debré is part of the national and international IMD professional societies; Manuel Schiff being recently nominated Honorary Secretary of the SSIEM. Articles are regularly published in GP journals. Training and education is also achieved by case discussions on diagnosis and management within the IMD national network and video conferencing. Furthermore, APHP-Robert Debré regularly receives foreign medical doctors for training purposes and trains dietitians. APHP-Robert Debré participates to the training of general pediatricians to IMD by coordinating a yearly IMD session at the French Pediatric Society meeting.
Clinical and translational research: Over the years, APHP-Robert Debré has been involved in research and development for several treatments including dietary specialized apps.
Registries and data collection: APHP-Robert Debré contributes to the national registry of rare diseases (BAMARA).


The progress in understanding the pathophysiology of the majority of IMD 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. APHP-Robert Debré provides the following specific treatments and interventions:
-Inborn errors of metabolism that respond to dietary therapy (therapeutic education)
-Cookery classes; Examples of IMD that respond to treatment with cofactors or vitamins
-Hemodialysis, -filtration (intoxication diseases: urea cycle disease, organic acidurias, Maple syrup urine disease (MSUD))
-Small molecules : mannose in CDG Ib; serine, creatine, …
-Enzyme replacement therapy: is currently available for the treatment of several LSDs. APHP-Robert Debré provides the structure for i.v. administration of Aldurazyme® for the treatment of MPS I, Elaprase® for MPS II, Vimizim® for MPS IVA, and Myozyme® for Pompe disease.
-Organ transplantation for children : kidney to treat chronic renal failure (Organic acidurias, cystinosis); hematopoietic stem cell transplantation.
-Inhibition of substrate synthesis.
-Depletion of accumulated substrate.
– “Hospitalisation A Domicile” (HAD, at home hospitalization service)
– Expertise in socially difficult situations due to the location of APHP-Robert Debré in an area with populations in precarious situations. This expertise has been accumulated over the years for the care of IMD (medical and dietary care).

Need help or information? Contact us!

    Your Name (required)

    Your Email (required)


    Your Message

    Manuel Schiff

    Assistance Publique Hôpitaux de Paris- University Hospital Robert-Debré