MaRDI English

French national reference center for rare digestive diseases (MaRDI)

To provide children and their parents with effective and peaceful therapeutic care, the team at the MaRDI reference center has developed a holistic and multi-professional approach as well as 4 therapeutic education programs: parenteral nutrition, enteral nutrition, IBD and transplantation, with at least one coordinating nurse for each.

We work with the main associations of patients and families developed around certain diseases or certain type of care.

We constantly ensure the safety and the best quality of life for children with rare digestive diseases and their families.

The transition to care by adult centers has been organized for several years now with Parisian hospitals (Beaujon, Georges-Pompidou, Saint-Antoine). It is based on anticipation, with, in particular, early transmission of medical information and shared « pediatric-adult » consultations.

Aware of the heaviness of the care and the importance of the issues, we are convinced of the need for care in a center whose expertise is based on years of work and experience in the field.

This reference center is affiliated with the FIMATHO rare diseases healthcare network and the ERNICA European reference network (ERN)

Medical
team

Frank Ruemmele portrait page mardi

Pr Frank Ruemmele
MD, PhD

Contact us
 

Phone. +33 (0) 1 44 49 25 60

     or     +33 (0) 1 44 49 25 16

The MaRDI reference center was established at Necker hospital in 2004. It was a natural fit, as its gastroenterology and nutrition department had been involved for several decades in the field of rare intestinal diseases, whether those that lead to intestinal insufficiency and require parenteral nutrition (PN) or chronic inflammatory bowel diseases (IBD). Our center is internationally recognised, thanks to scientific communications and publications, but also thanks to the care of children from all over Europe and beyond.

As early as the 1970s, Professor Claude Ricour, faced with serious digestive diseases causing severe malnutrition, developed parenteral nutrition (PN) in France. He initiated its pursuit at home in 1981 leading to the creation, in 1984, in Necker, of the first « expert center for home parenteral nutrition » (HPN) for children. This therapy remains the main means of caring for children with intestinal insufficiency, whether it is linked to a short bowel syndrome, congenital enteropathy or certain neuro-muscular digestive diseases (chronic intestinal pseudo-obstruction, Hirschsprung’s disease). Thanks to a close and long-standing collaboration with the paediatric surgery team (Pr D.Pellerin and Pr Y.Révillon), it was also at Necker that the first intestinal transplant in children was carried out in 1987 and the first liver transplant associated with the intestine was performed in 1994. All these years have been marked by intense research activity which has led to considerable progress in the efficacy and safety of PN. We took an active part in the European Guidelines for PN in children published in 2005 and updated in 2018 in Clinical Nutrition.

The analysis of cohorts of patients with intestinal insufficiency or IBD and clinical research have enabled us to advance therapeutics and to highlight new rare intestinal diseases related to genetic mutations. Thanks to the many skills gathered on the Necker site and to the close links with the Imagine institute, we are continuing this essential research, particularly in molecular genetics with the Immunobiota program for the diagnosis of mutations in children with neonatal onset enteropathies or complex digestive immunopathologies (severe colitis, autoimmune enteropathies, etc.)

In the field of intestinal insufficiency, we have, today in Europe, the largest cohort of children in HPN: 150 children in active line and more than 700 since its initiation at the beginning of the 80’s and the largest series of children having received an intestinal transplant (more than 120 children). For children with short bowel syndrome, we currently have a treatment protocol with a recombinant intestinal hormone, GLP-2.

In the field of IBD, for two decades we have been facing a sharp increase in the incidence and demand for diagnosis (digestive endoscopy, medical imaging by MRI, pediatric proctology) and therapeutic care. We are therefore developing, with cohorts of more than 400 patients, adapted care pathways and numerous research programs, whether it concerns nutritional treatment in Crohn’s disease and, above all, biological treatments (biotherapy by monoclonal antibodies) .

Short bowel syndrome

  • Linked to a congenital malformation (Atresia, laparochisis) Q41 *
  • Linked to postnatal ischemic attack (enterocolitis, small bowel volvulus) [No specific code (PCS)]

Digestive neuromuscular diseases (MNMD)

  • Chronic intestinal pseudo-obstruction syndrome K560
  • Hirschsprung’s disease spread to the small intestine Q431

Congenital enteropathies of the intestinal mucosa development

  • Microvillus atrophy (MYO5B, STX3) (PCS)
  • Intestinal epithelial dysplasia (Epcam, Spint2) (PCS)
  • Syndromic diarrhea (SKIV2L, TTC37) (PCS)
  • Neurogenin 3 deficiency (PCS), UNC45A mutation and other mutations

Crohn’s disease K50 *

Ulcerative colitis K51 *

Undifferentiated colitis K52 *

Autoimmune enteropathies (PCS)

Monogenic inflammatory colitis (PCS)

Diseases of digestion / absorption / intestinal transport

  • Glucose-galactose malabsorption E743
  • Congenital chlorinated diarrhea P783
  • Hypo and a-beta lipoproteinemias (PCS)
  • Digestive polyps and polyposes D126, 126 + 4, 126 + 5

Chronic pancreatitis

Malformative pancreatitis Q450, Q451, Q453

Hereditary chronic pancreatitis K861

En savoir +

  • Pr Frank Ruemmele, gastropediatrician – deputy head of department | IBD and digestive immuno-pathologies | Head of the CRMR
  • Pr Olivier Goulet, head of the gastroenterology-hepatology-nutrition (GHN) department – Head of the HPN expert center
  • Dr Cécile Lambe, gastropediatrician | nutrition and HPN program
  • Dr Cécile Talbotec, gastropediatrician | digestive endoscopy and HPN program
  • Dr Bénédicte Pigneur, gastropediatrician | digestive endoscopy, IBD and pediatric proctology
  • Dr Florence Lacaille, hepatopediatrician | intestinal and liver transplant program
  • Catherine Poisson, nurse coordinator and trainer in pediatric therapeutic education (ETP) for the HPN and enteral nutrition program at home
  • Amelia Rocha, nurse trainer for the HPN program in the HPN and home enteral nutrition program
  • Lucie, ETP nurse trainer for the IBD and constitutional digestive immuno-pathologies program
  • Djamila Feeza, ETP nurse trainer for the transplant program
  • Julie Ollivier, social worker
  • Isabelle Eicher, clinical psychologist
  • Joëlle Lecas, healthcare manager
  • Isabelle Martinez, early childhood educator
  • Home parental nutrition
  • Home enteral nutrition
  • Chronic inflammatory bowel disease (IBD) and congenital digestive immune pathologies
  • Intestinal and hepato-intestinal and hepatic transplantation

REVE study (AP-HP promoter; Principal investigator Pr Olivier Goulet)
Treatment of short bowel syndrome with recombinant GLP-2 hormone (Revestive® Shire): (clinical trial in progress (partnership with Imagine, AP-HP and Shire)

CD-Hope study : nutritional treatment as a maintenance treatment for Crohn’s disease (multicenter clinical trial in progress, Principal investigator: F. Ruemmele, sponsor: APHP-NEM, partnership with Nestlé Clinical Science)

Horizon2020 project (Funds obtained from the European Commission) – PIBDSetquality : Principal investigator: Pr. Frank Rümmele, with 2 objectives:

  • Multicenter clinical trial of therapeutic strategy for Crohn’s disease (ANSM and CPP agreement 11/2016): recruitment of the 1st patient scheduled for 01/2017,
  • Inception cohort: assessment of the risks and complications of children / adolescents with IBD

Immunobiota study (Pr Frank Rümmele, coordinating investigator, Hôpital Necker-Enfants Malades, Dr Nadine Cerf-Bensussan, scientific director) Advanced ECR Grant (European Commission) Dr Nadine Cerf-Bensussan, (Institut Imagine, Inserm U1163, Paris)

  • Objective: to characterize phenotypically (clinical) and genetically (molecular) children with immune enteropathy / IPDMG (such as autoimmune enteropathies, IPEX, XIAP, IL10 signaling deficiency, etc.)
  • Development of a research diagnostic chip for these pathologies
  • Participation of 12 French pediatric centers and 1 adult IBD center (protocol in place since 12/2015) and collaboration with the GENIUS working group of ESPGHAN [initiated in 2009 by Frank Rümmele, bringing together patients from 20 European countries and beyond (www.genius-group.org)]

Interuniversity diploma in clinical nutrition and metabolism
Paris-Descartes, Clermont-Ferrand, Grenoble, Lyon, Rouen, Versailles-Saint-Quentin, Brest, Nice + Brussels, Geneva, Lausanne universities
Olivier Goulet: manager at Paris-Descartes

Interuniversity diploma in pediatric gastroenterology-hepatology-nutrition
Paris-Descartes, Aix-Marseille, Angers, Bordeaux, Caen, Clermont-Ferrand, Lille, Lyon, Montpellier, Nancy, Paris VI, Paris VII, Paris XI, Rennes, Toulouse and Tours universities
Thierry Lamireau: head of Bordeaux university

2020

Designing clinical trials in paediatric inflammatory bowel diseases: a PIBDnet commentary.
Dan Turner, Anne M Griffiths, David Wilson, Diane R Mould, Robert N Baldassano, Richard K Russell, Marla Dubinsky, Melvin B Heyman, Lissy de Ridder, Jeffrey Hyams, Javier Martin de Carpi, Laurie Conklin, William A Faubion, Sibylle Koletzko, Athos Bousvaros, Frank M Ruemmele
Gut, 2020 Jan, PMID: 30979718 DOI: 10.1136/gutjnl-2018-317987

Neurological Adverse Effects Associated with anti-TNF Alpha Antibodies in Pediatric Inflammatory Bowel Diseases.
Valérie Bertrand, Nathalie Massy, Bénédicte Pigneur, Stéphanie Coopman, Geneviève Durrieu, Louise Gaboriau, Vincent Langlois, Corinne Gower-Rousseau, Jean-Pierre Hugot, Frank M Ruemmele, GETAID (Groupe d’Etude thérapeutique des Affections Inflammatoires du Tube Digestif) Pdiatrique
J Pediatr Gastroenterol Nutr, 2020 Jun, PMID: 32443044 DOI: 10.1097/MPG.0000000000002654

Lipid Emulsion Use in Pediatric Patients Requiring Long-Term Parenteral Nutrition.
Olivier J Goulet, Wei Cai, Jeong-Meen Seo
JPEN J Parenter Enteral Nutr, 2020 Feb, PMID: 32049395 DOI: 10.1002/jpen.1762

Beyond 10 years, with or without an intestinal graft: Present and future?
Sophie Courbage, Danielle Canioni, Cécile Talbotec, Cécile Lambe, Christophe Chardot, Marion Rabant, Louise Galmiche, Olivier Corcos, Olivier Goulet, Francisca Joly, Florence Lacaille
Am J Transplant, 2020 Oct, PMID: 32277553 DOI: 10.1111/ajt.15899

Neurological Adverse Effects Associated With Anti-tumor Necrosis Factor Alpha Antibodies in Pediatric Inflammatory Bowel Diseases.
Valérie Bertrand, Nathalie Massy, Bénédicte Pigneur, Stéphanie Coopman, Geneviève Durrieu, Louise Gaboriau, Vincent Langlois, Corinne Gower-Rousseau, Jean-Pierre Hugot, Frank M Ruemmele, GETAID (Groupe d’Etude thérapeutique des Affections Inflammatoires du Tube Digestif) Pdiatrique
J Pediatr Gastroenterol Nutr, 2020 Jun, PMID: 32443044 DOI: 10.1097/MPG.0000000000002654

The Medical Management of Paediatric Crohn »s Disease: an ECCO-ESPGHAN Guideline Update.
Patrick F van Rheenen, Marina Aloi, Amit Assa, Jiri Bronsky, Johanna C Escher, Ulrika L Fagerberg, Marco Gasparetto, Konstantinos Gerasimidis, Anne Griffiths, Paul Henderson, Sibylle Koletzko, Kaija-Leena Kolho, Arie Levine, Johan van Limbergen, Francisco Javier Martin de Carpi, Víctor Manuel Navas-López, Salvatore Oliva, Lissy de Ridder, Richard K Russell, Dror Shouval, Antonino Spinelli, Dan Turner, David Wilson, Eytan Wine, Frank M Ruemmele
J Crohns Colitis, 2020 Oct 7, PMID: 33026087 DOI: 10.1093/ecco-jcc/jjaa161

Clostridium difficile: A Frequent Infection in Children After Intestinal Transplantation.
Rémi Duclaux-Loras, Julien Berthiller, Agnès Ferroni, Christophe Chardot, Olivier Goulet, Florence Lacaille, Lorenzo Norsa
Transplantation, 2020 Jan, PMID: 31205257 DOI: 10.1097/TP.0000000000002795

2019

2018

2017

2016

2015

Contact information

Necker-Enfants malades university hospital
> Gastroenterology, hepatology and nutrition department

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the reference center for rare digestive diseases (MaRDI) is …

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patients followed at least once a year*
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medical consultations*
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day hospitalizations*
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fully hospitalized patients*
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authorized therapeutic education programs*
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patients trained in therapeutic education*
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current research projects*
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university courses*
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publications*

* data valid for 2020