French national reference center for biliary atresia and genetic cholestases in children (CRAVB-CG)
The reference center for biliary atresia and genetic cholestases in children is organized around a multidisciplinary and highly specialized medical team with proven expertise in pediatric liver diseases.
The reference center specializes in the diagnosis and management of childhood liver diseases, in particular biliary atresia and neonatal sclerosing cholangitis. These are rare diseases which, for the most part, have no drug treatment, and whose only recourse is often surgery or transplantation. Biliary atresia is a complex disease that is the leading cause of liver transplantation in children.
The center’s team is building on its research into the pathophysiological mechanisms of biliary atresia to remedy this lack of drug treatment and develop a molecule capable of slowing the progression of the disease (European patent for the development of a treatment in partnership with the pharmaceutical industry). This is a real hope for families. This research activity, the only one of its kind in France, is carried out by the reference center within its research unit at the Institut Necker-Enfants malades. Developping this research activity further is one of the main objectives set by the team.
This reference center is affiliated with the FILFOIE rare diseases healthcare network and the European reference networks (ERN) Rare liver and Transplantchild.
Keywords: Biliary atresia, neonatal cholestasis, genetics, liver transplantation
Medical
team
Head of the reference center
Dr Muriel Girard
MD, PhD
In case of emergency
- Biliary atresia with or without associated malformations
- Neonatal and older child cholestasis
- Alagille syndrome
- Progressive familial intrahepatic cholestasis (PFIC)
- Primary bile acid synthesis deficiency
- Sclerosing cholangitis in children
- Congenital hepatic fibrosis
- Polycystic hepatorenal disease
- Caroli disease
- Others ciliopathies
- Alpha1antitrypsin defect
- Hepatic insufficiency
Dr Muriel Girard
Paediatric hepatologist, head of the reference center
MD, PhD
Pr Dominique Debray
Paediatric hepatologist
MD, PhD
Dr Samira Sissaoui
Paediatric hepatologist
MD
Dr Claire Mayer
Paediatrician, head of clinic
MD
Caroline Clementi
Senior health executive
Valérie Martin
Nurse
Camille Pattyn
Nurse
Djamila Fezaa
Transplant liaison and therapeutic education nurse
Laetitia Paillard
Pediatric nurse, tutor
Isabelle Martinez
Educator
Karine Festa
Caregiver
Julie Ollivier
Social worker
Tiffaine Rioult
Secretary
Therapeutic education pathway for children and their parents in home enteral feeding techniques
Therapeutic education pathway for children with liver or intestinal transplantation, and their parents
PNDS
Diagnosis and therapeutic care of biliary atresia (in progress)
Diagnosis and treatment of chronic cholestases in children with normal gammaGT (in progress)
Good practice guide
Recommendations aimed at optimizing the overall medical care of young patients with chronic liver diseases or liver transplant patients followed in pediatrics and reaching adulthood – transition and transfer of medical responsibility
- Biliary atresia in France: epidemiological monitoring, therapeutic results and impact of measures to improve patient care
- Non-invasive study of fibrosis in pediatrics using the Fibroscan method (PEDISCAN)
- Identification of mutations in neonatal cholangitis without ichthyosis
- Genetic investigations of biliary atresia
- Identification of a common signaling pathway involved in biliary atresia
- Study of genetic polymorphisms in children with alpha-1-antitrypsin deficiency included in the DEFI-ALPHA cohort (POLYGEN DEFI-ALPHA)
Inter-university diploma in hepatology, gastroenterology and pediatric nutrition
Bordeaux university
Inter-university diploma in organ transplantation
Tours, Paris and Lyon medicine training and research unit
Inter-university diploma in pediatric pneumology
Paris-Descartes university
2021
– Long term results of liver transplantation for alpha-1 antitrypsin deficiency.
Olivier Guillaud , Emmanuel Jacquemin , Eduardo Couchonnal , Claire Vanlemmens , Claire Francoz , Yasmina Chouik , Filomena Conti , Christophe Duvoux , Marie-Noëlle Hilleret , Nassim Kamar , Pauline Houssel-Debry , Martine Neau-Cransac , Georges-Philippe Pageaux , Emmanuel Gonzales , Oanez Ackermann , Jean Gugenheim , Alain Lachaux , Mathias Ruiz , Sylvie Radenne , Dominique Debray , Florence Lacaille , Valérie McLin , Jean-Charles Duclos-Vallée , Didier Samuel , Audrey Coilly , Jérôme Dumortier
Dig Liver Dis, 2021 May, PMID: 33139195 DOI: 10.1016/j.dld.2020.10.016
– Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.
Guillaume Dorval , Olivia Boyer , Anne Couderc , Jean-Daniel Delbet , Laurence Heidet , Dominique Debray, Pauline Krug, Muriel Girard, Brigitte Llanas , Marina Charbit, Saoussen Krid , Nathalie Biebuyck, Marc Fila, Cécile Courivaud, Frances Tilley, Nicolas Garcelon, Thomas Blanc, Christophe Chardot, Rémi Salomon, Florence Lacaille
Pediatr Nephrol, 2021 May, PMID: 33165639 DOI: 10.1007/s00467-020-04808-9
– Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
Daan B.E. van Wessel,Richard J. Thompson,Emmanuel Gonzales,Irena Jankowska,Benjamin L. Shneider,Etienne Sokal,Tassos Grammatikopoulos,Agustina Kadaristiana,Emmanuel Jacquemin,Anne Spraul,Patryk Lipiński,Piotr Czubkowski,Nathalie Rock,Mohammad Shagrani,Dieter Broering,Talal Algoufi,Nejat Mazhar,Emanuele Nicastro,Deirdre Kelly,Gabriella Nebbia,Henrik Arnell,Björn Fischler,Jan B.F. Hulscher,Daniele Serranti,Cigdem Arikan,Dominique Debray,Florence Lacaille et al.
Hepatology, 2021 Aug, PMID: 33666275 PMCID: PMC8456904 DOI: 10.1002/hep.31787
– Effects of odevixibat on pruritus and bile acids in children with cholestatic liver disease: Phase 2 study.
Ulrich Baumann, Ekkehard Sturm, Florence Lacaille, Emmanuel Gonzalès, Henrik Arnell, Björn Fischler, Marianne Hørby Jørgensen, Richard J Thompson, Jan P Mattsson, Mats Ekelund, Erik Lindström, Per-Göran Gillberg, Kristina Torfgård, Paresh N Soni
Clin Res Hepatol Gastroenterol, 2021 Sep, PMID: 34182185 DOI: 10.1016/j.clinre.2021.101751
– Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study.
Emmanuel Gonzales, Winita Hardikar, Michael Stormon, Alastair Baker, Loreto Hierro, Dorota Gliwicz, Florence Lacaille, Alain Lachaux, Ekkehard Sturm, Kenneth D R Setchell, Ciara Kennedy, Alejandro Dorenbaum, Jana Steinmetz, Nirav K Desai, Andrew J Wardle, Will Garner, Pamela Vig, Thomas Jaecklin, Etienne M Sokal, Emmanuel Jacquemin
Lancet, 2021 Oct 30, PMID: 34755627 DOI: 10.1016/S0140-6736(21)01256-3
2020
– Hepatic manifestations of cystic fibrosis.
Dana J, Girard M, Debray D.
Curr Opin Gastroenterol. 2020 May;36(3):192-198. doi: 10.1097/MOG.0000000000000624.
PMID: 32097175.
– Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Čechová A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawliński Ł, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzík T.
J Inherit Metab Dis. 2020 Jul;43(4):671-693. doi: 10.1002/jimd.12241. Epub 2020 Apr 21.
PMID: 32266963.
– Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G.
Am J Med Genet A. 2020 Jan;182(1):29-37. doi: 10.1002/ajmg.a.61364. Epub 2019 Oct 25.
PMID: 31654484.
– Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Corpechot C, Barbu V, Chazouillères O, Broué P, Girard M, Roquelaure B, Chrétien Y, Dong C, Lascols O, Housset C, Jéru I.
Liver Int. 2020 Jan;40(1):163-174. doi: 10.1111/liv.14260. Epub 2019 Oct 13.
PMID: 31544333.
– Long term outcome of MPI-CDG patients on D-mannose therapy.
Muriel Girard,Claire Douillard,Dominique Debray,Florence Lacaille,Manuel Schiff,Sandrine Vuillaumier-Barrot,Thierry Dupré,Monique Fabre,Lena Damaj,Alice Kuster,Stéphanie Torre,Karine Mention,Valérie McLin,Dries Dobbelaere,Delphine Borgel,Eric Bauchard,Nathalie Seta,Arnaud Bruneel,Pascale De Lonlay
J Inherit Metab Dis, 2020 Nov, PMID: 33098580 DOI: 10.1002/jimd.12289
– Optimization of the transition process of youth with liver disease in adulthood: A position paper from FILFOIE, the French network for paediatric and adult rare liver diseases.
Teresa Maria Antonini, Muriel Girard, Dalila Habes, Odile Goria, Dominique Debray
Clin Res Hepatol Gastroenterol, 2020 Apr, PMID: 31564624 DOI: 10.1016/j.clinre.2019.07.018
– Hepatic manifestations of cystic fibrosis.
Jeremy Dana, Muriel Girard, Dominique Debray
Curr Opin Gastroenterol, 2020 May, PMID: 32097175 DOI: 10.1097/MOG.0000000000000624
– Early Bacterial Infections After Pediatric Liver Transplantation in the Era of Multidrug-resistant Bacteria: Nine-year Single-center Retrospective Experience.
Béranger, Agathe; Capito, Carmen; Lacaille, Florence; Ferroni, Agnès; Bouazza, Naïm; Girard, Muriel; Oualha, Mehdi; Renolleau, Sylvain; Debray, Dominique; Chardot, Christophe; Frange, Pierre; Moulin, Florence
Pediatr Infect Dis J, 2020 Aug, PMID: 32251259 DOI: 10.1097/INF.0000000000002662
– Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia.
Maleha S Alsafri, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia
Acta Derm Venereol, 2020 Jun 11, PMID: 32424433 DOI: 10.2340/00015555-3522
– Genetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Christophe Corpechot, Véronique Barbu, Olivier Chazouillères, Pierre Broué, Muriel Girard, Bertrand Roquelaure, Yves Chrétien, Catherine Dong, Olivier Lascols, Chantal Housset, Isabelle Jéru
Liver Int, 2020 Jan, PMID: 31544333 DOI: 10.1111/liv.14260
– Genotype correlates with the natural history of severe bile salt export pump deficiency.
Daan B E van Wessel, Richard J Thompson, Emmanuel Gonzales, Irena Jankowska, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Talal Algoufi, Nejat Mazhar, Emanuele Nicastro, Deirdre A Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B F Hulscher, Daniele Serranti, Cigdem Arikan, Esra Pola, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Ekkehard Sturm, Wendy J van der Woerd, Binita M Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Zerrin Onal, Ton M G Bunt, Bettina E Hansen, Henkjan J Verkade, NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium
J Hepatol, 2020 Jul, PMID: 32087350 DOI: 10.1016/j.jhep.2020.02.007
– Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Anna Čechová,Ruqaiah Altassan,Delphine Borgel,Arnaud Bruneel,Joana Correia,Muriel Girard,Annie Harroche,Beata Kiec-Wilk,Klaus Mohnike,Tiffany Pascreau,Łukasz Pawliński,Silvia Radenkovic,Sandrine Vuillaumier-Barrot,Luis Aldamiz-Echevarria,Maria Luz Couce,Esmeralda G. Martins,Dulce Quelhas,Eva Morava,Pascale de Lonlay,Peter Witters,Tomáš Honzík
J Inherit Metab Dis, 2020 Jul, PMID: 32266963 PMCID: PMC7574589 DOI: 10.1002/jimd.12241
– Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Benjamin Cogné, Xenia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C Koboldt, Georgios Kellaris, Lorraine Fievet, Guylène Le Meur, Dominique Caldari, Dominique Debray, Mathilde Nizon, Eirik Frengen, Sara J Bowne , 99 Lives Consortium; Elizabeth L Cadena, Stephen P Daiger, Kinga M Bujakowska, Eric A Pierce, Michael Gorin, Nicholas Katsanis, Stéphane Bézieau, Simon M Petersen-Jones, Laurence M Occelli, Leslie A Lyons, Laurence Legeai-Mallet, Lori S Sullivan, Erica E Davis, Bertrand Isidor
Am J Hum Genet, 2020 Jun 4, PMID: 32386558 PMCID: PMC7273529 DOI: 10.1016/j.ajhg.2020.04.005
– Population Pharmacokinetics of Intravenous and Oral Acyclovir and Oral Valacyclovir in Pediatric Population To Optimize Dosing Regimens.
S Abdalla, C Briand, M Oualha, M Bendavid, A Béranger, S Benaboud, J-M Tréluyer, Y Zheng, C Capito, Z Demir, F Foissac, S Winter, I Gana, S Boujaafar, N Bouazza, D Hirt
Antimicrob Agents Chemother, 2020 Nov 17, PMID: 32988829 PMCID: PMC7674054 DOI: 10.1128/AAC.01426-20
2019
– Genetics in biliary atresia.
Girard M, Panasyuk G.
Curr Opin Gastroenterol.
2019 Mar;35(2):73-81. doi: 10.1097/MOG.0000000000000509.
PMID: 30585837.
– Management of biliary atresia in France 1986 to 2015: Long-term results.
Fanna M, Masson G, Capito C, Girard M, Guerin F, Hermeziu B, Lachaux A, Roquelaure B, Gottrand F, Broue P, Dabadie A, Lamireau T, Jacquemin E, Chardot
J Pediatr Gastroenterol Nutr. 2019 Oct;69(4):416-424. doi: 10.1097/MPG.0000000000002446.
PMID: 31335841.
2018
– CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Girard M, Poujois A, Fabre M, Lacaille F, Debray D, Rio M, Fenaille F, Cholet S, Ruel C, Caussé E,
Selves J, Bridoux-Henno L, Woimant F, Dupré T, Vuillaumier-Barrot S, Seta N, Alric L, de Lonlay P, Bruneel A.
Mol Genet Metab. 2018 Jul;124(3):228-235. doi: 10.1016/j.ymgme.2018.05.002. Epub 2018 May 9.
PMID: 29759592
2016
– Biliary atresia: Clinical advances and perspectives.
Nizery L, Chardot C, Sissaoui S, Capito C, Henrion-Caude A, Debray D, Girard M.
Clin Res Hepatol Gastroenterol. 2016 Jun;40(3):281-287. doi: 10.1016/j.clinre.2015.11.010. Epub 2016 Jan 5.
PMID: 26775892.
– DCDC2 mutations cause neonatal sclerosing cholangitis.
Girard M, Bizet AA, Lachaux A, Gonzales E, Filhol E, Collardeau-Frachon S, Jeanpierre C, Henry C, Fabre M, Viremouneix L, Galmiche L, Debray D, Bole-Feysot C, Nitschke P, Pariente D, Guettier C, Lyonnet S, Heidet L, Bertholet A, Jacquemin E, Henrion-Caude A, Saunier S.
Hum Mutat. 2016 Oct;37(10):1025-9. doi: 10.1002/humu.23031. Epub 2016 Aug 24.
PMID: 27319779.
2015
– Liver biopsy in children: position paper of the ESPGHAN Hepatology Committee.
Dezsőfi A, Baumann U, Dhawan A, Durmaz O, Fischler B, Hadzic N, Hierro L, Lacaille F, McLin VA,
Nobili V, Socha P, Vajro P, Knisely AS; ESPGHAN Hepatology Committee.
J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):408-20. doi: 10.1097/MPG.0000000000000632. Review.
PMID: 25383787
2014
– Secondary mitochondrial respiratory chain defect can delay accurate PFIC2 diagnosis.
Davit-Spraul A, Beinat M, Debray D, Rötig A, Slama A, Jacquemin E.
JIMD Rep. 2014;14:17-21. doi: 10.1007/8904_2013_278. Epub 2013 Nov 9.
PMID: 24214725
– MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion disease.
Girard M, Lacaille F, Verkarre V, Mategot R, Feldmann G, Grodet A, Sauvat F, Irtan S, Davit-Spraul A, Jacquemin E, Ruemmele F, Rainteau D, Goulet O, Colomb V, Chardot C, Henrion-Caude A, Debray D.
Hepatology. 2014 Jul;60(1):301-10. doi: 10.1002/hep.26974. Epub 2014 May 27.
PMID: 24375397
– A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.
Jedraszak G, Girard M, Mellos A, Djeddi DD, Chardot C, Vanrenterghem A, Moizard MP, Gondry J, Sevestre H, Mathieu-Dramard M, Lacaille F, Demeer B.
Am J Med Genet A. 2014 Mar;164A(3):774-7. doi: 10.1002/ajmg.a.36335. Epub 2013 Dec 19.
PMID: 24357529
2013
– Improving outcomes of biliary atresia: French national series 1986-2009.
Chardot C, Buet C, Serinet MO, Golmard JL, Lachaux A, Roquelaure B, Gottrand F, Broué P, Dabadie A, Gauthier F, Jacquemin E.
J Hepatol. 2013 Jun;58(6):1209-17. doi: 10.1016/j.jhep.2013.01.040. Epub 2013 Feb 8.
PMID: 23402746
– MitomiRs delineating the intracellular localization of microRNAs at mitochondria.
Bandiera S, Matégot R, Girard M, Demongeot J, Henrion-Caude A.
Free Radic Biol Med. 2013 Sep;64:12-9. doi: 10.1016/j.freeradbiomed.2013.06.013. Epub 2013 Jun 18. Review.
PMID: 23792138
– Immunohistochemical profile of ezrin and radixin in human liver epithelia during fetal development and pediatric cholestatic diseases.
Clapéron A, Debray D, Redon MJ, Mergey M, Ho-Bouldoires TH, Housset C, Fabre M, Fouassier L.
Clin Res Hepatol Gastroenterol. 2013 Apr;37(2):142-51. doi: 10.1016/j.clinre.2013.02.001. Epub 2013 Mar 16.
PMID: 23507543
2012
– Specificities of sclerosing cholangitis in childhood.
Girard M, Franchi-Abella S, Lacaille F, Debray D.
Clin Res Hepatol Gastroenterol. 2012 Dec;36(6):530-5. doi: 10.1016/j.clinre.2012.04.003. Epub 2012 May 23.
PMID: 22633198.
– Biliary atresia: does ethnicity matter?
Girard M, Jannot AS, Besnard M, Jacquemin E, Henrion-Caude A.
J Hepatol. 2012 Sep;57(3):700-1; author reply 702. doi: 10.1016/j.jhep.2012.03.011. Epub 2012 Apr 14. No abstract available.
PMID: 22510261
Contact information
Necker-Enfants malades university hospital
> Pediatric gastroenterology, hepatology and nutrition unit
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the CRMR of biliary atresia and genetic cholestases in children in brief …
* data valid for 2022