French national reference center for cystic fibrosis and conditions linked to a CFTR abnormality
The reference center for cystic fibrosis and conditions linked to a CFTR abnormality at Necker hospital follows a cohort of 260 patients with cystic fibrosis and related disorders, making it one of the world’s largest pediatric centers.
Four more specific aspects are developed :
Outpatient follow-up, backed up by a strong therapeutic education activity, in conjunction with the transversal therapeutic education unit (UTET), and supported by home visits.
Follow-up of patients with respiratory insufficiency, and if necessary, preparation for lung transplantation and follow-up of transplanted patients. This is done in conjunction with the APHP pediatric lung transplant center, in collaboration with the reference center.
Evaluation of patients referred for suspected cystic fibrosis in whom the diagnosis cannot be made on conventional genetic grounds, thanks to the development of innovative tests within the framework of a diagnostic platform that is unique in Europe.
Significant translational and fundamental research activity, in conjunction with Pr Sermet-Gaudelus’ INSERM team at the Necker-Enfants malades institute (INEM). Coordination of the MODUL-CF follow-up study of the French pediatric cohort of patients treated with modulators.
The reference center for cystic fibrosis and conditions linked to a CFTR abnormality is affiliated with the MUCO | CFTR rare diseases healthcare network and the LUNG European reference network (ERN).
Medical
team
Pr Isabelle Sermet-Gaudelus
MD, PhD
Contact us
Consultations
At the reference center reception desk when you are on site
Audrey Deelawon (patient reception)
Phone. +33 1 87 89 20 29
> Send an email
Myriam Gassama (secretariat)
Phone. +33 1 44 49 55 86
> Send an email
Functional respiratory examinations
Phone. +33 1 44 49 50 47
> Send an email
In case of emergency
Patients with cystic fibrosis and related forms
Patients with suspected cystic fibrosis
Patients with respiratory failure awaiting lung transplantation
The preparation of these patients is based on a unique multidisciplinary expertise optimizing the preparation for lung transplantation and ensuring national recruitment, combining :
- care in the pediatric pneumoallergology department and the cystic fibrosis functional unit ;
- a transversal unit for the care of children in non-invasive ventilation ;
- the exploration of pulmonary hypertension in pediatric cardiology ;
- various pediatric specialty services for the care of multisystemic patients ;
- transversal units allowing symptomatic care (nutrition, infectious diseases, endocrinology, psychiatry, diabetology, exercise re-training, etc.) and facilitating outpatient monitoring (transversal therapeutic education unit) ;
- a pediatric resuscitation and continuing care service for decompensating patients ;
- a pediatric surgery department with thoracic specialization ;
- a technical platform combining endobronchial fibroscopy, associated histological expertise, pulmonary imaging.
The multidisciplinary care of patients registered or soon registered on the transplant list is provided by various programs :
- respiratory rehabilitation (24 hours a day on-call physiotherapists, exercise reconditioning, implementation if necessary of non-invasive ventilation) ;
- nutritional rehabilitation (enteral and / or parenteral nutrition in collaboration with the pediatric nutritional unit) ;
- adaptation of the anti-infectious strategy in collaboration with the microbiology department and the mobile infectious disease unit ;
- care of painful cases ; supportive psychotherapy and body therapy ;
- establishment of a network with relay centers.
Since January 2019, the Necker teams have been providing pediatric lung transplantation and post-transplant patient monitoring. This involves cardiac and thoracic surgery, medical resuscitation, the pediatric pneumoallergology department and the cystic fibrosis functional unit.
The medical follow-up of patients followed at the cystic fibrosis functional unit is provided by :
- Pr Isabelle Sermet-Gaudelus,
- Dr Muriel Le Bourgeois,
- Dr Frédérique Chedevergne
- Dr Céline Bailly.
Each doctor is a referent for his outpatients. Doctors Chedevergne and Bailly are referents for the activity of the day hospital, Professor Sermet-Gaudelus for traditional hospitalization and the care of patients awaiting pediatric lung transplantation.
Paramedical monitoring is provided by :
- Aline Lustre, coordinating nurse specifically dedicated to the cystic fibrosis resource and competence center (CRCM) and Marlène Clairicia Pierre-Joseph, training nurse at the child home treatment training center (CFTDE) ;
- Caroline Grapin, physiotherapist specifically dedicated to the CRCM and Hélène Avril, physiotherapist from the functional rehabilitation department ;
- Maya Kirszenbaum, psychologist specifically dedicated to the CRCM ;
- Nathalie Nguyen-Lekhaj, secretary ;
- a dietitian from the dietetic service pool ;
- a social worker from the pediatric pneumo-allergology service ;
- Déborah Fuchs, medico-sports educator in the functional rehabilitation service.
Therapeutic education pathway for a child with cystic fibrosis and his parents, from screening to adulthood
The research activity is supported by the local association « Mucoviscidose – ABCF2 » intended to promote research in cystic fibrosis.
Fundamental research takes place within a labeled research structure: Inserm U 1511, Institut Necker-Enfants malades. Faculty of medicine, Paris V. directed by Pr Sermet.
The research program focuses on the involvement of the CFTR protein in normal and pathological lungs.
The main lines of research are:
- research of CFTR partner proteins, allowing the identification of signaling pathways linked to CFTR dysfunction and creating new therapeutic targets ;
- the study of unconventional CFTR secretion pathways and research of innovative cell therapy pathways ;
- involvement of CFTR in other respiratory epithelial pathologies (COPD) and in abnormalities of lung development ;
- personalized therapy program for cystic fibrosis and related forms: research of new modulators of CFTR, development of tools to establish the effectiveness of these molecules; development of specific models from primary cultures of nasal cells and organoids derived from intestinal and respiratory tissues of patients. Application of these tools for a preclinical evaluation of new CFTR modulating therapies and identification of factors of phenotypic heterogeneity and therapeutic response.
This program is supported by recurrent funding: H2020 “PRO-CF-MED ; ANR 2014 ; recurrent French and American associative funding. Industrial financing.
Translational research is being carried out in conjunction with the Clinical Investigation Center (CIC) and is based on extensive therapeutic trial activity for new CFTR modulators.
- Fungal infection UD
- Rare disease IUD
- Pediatric pulmonology IUD
- Pediatric infectious disease IUD
- Palliative care IUD
- Junior training in pediatrics
2022
– Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test.
Thao Nguyen-Khoa, Aurélie Hatton, David Drummond, Laura Aoust, Joël Schlatter, Clémence Martin, Sophie Ramel, Sébastien Kiefer, Elsa Gachelin et al.
Eur Respir J, 2022 Aug 4, PMID: 35777769 DOI: 10.1183/13993003.00209-2022
– Keratin 8 is a scaffolding and regulatory protein of ERAD complexes.
Iwona Maria Pranke, Benoit Chevalier, Aiswarya Premchandar, Nesrine Baatallah, Kamil F Tomaszewski, Sara Bitam, Danielle Tondelier, Anita Golec, Jan Stolk et al.
Cell Mol Life Sci, 2022 Sep, PMID: 36045259 DOI: 10.1007/s00018-022-04528-3
– Lung-adapted Staphylococcus aureus isolates with dysfunctional agr system trigger a proinflammatory response.
Elodie Ramond, Agathe Lepissier, Xiongqi Ding, Clémence Bouvier, Xin Tan, Daniel Euphrasie, Pierre Monbernard, Marion Dupuis, Bruno Saubaméa et al.
J Infect Dis, 2022 Sep 28, PMID: 35524969 DOI: 10.1093/infdis/jiac191
– Systemic bis-phosphinic acid derivative restores chloride transport in Cystic Fibrosis mice.
Mélanie Faria da Cunha, Iwona Pranke , Ali Sassi, Christiane Schreiweis, Stéphanie Moriceau, Dragana Vidovic, Aurélie Hatton, Mariane Sylvia Carlon et al.
Sci Rep, 2022 Apr 12, PMID: 35413967 PMCID: PMC9005718 DOI: 10.1038/s41598-022-09678-9
– Inflammation biomarkers in sputum for clinical trials in cystic fibrosis: current understanding and gaps in knowledge.
Agathe Lepissier, Charlotte Addy, Kate Hayes, Sabrina Noel, Stéphanie Bui, Pierre-Régis Burgel, Lieven Dupont, Olaf Eickmeier, Michael Fayon, Teresinha Leal, Carlos Lopes, Damian G Downey, Isabelle Sermet-Gaudelus
J Cyst Fibros, 2022 Jul, PMID: 34772643 DOI: 10.1016/j.jcf.2021.10.009
– Correlating genotype with phenotype using CFTR-mediated whole-cell Cl- currents in human nasal epithelial cells.
Sabrina Noel, Nathalie Servel, Aurélie Hatton, Anita Golec, Mayuree Rodrat, Demi R S Ng, Hongyu Li, Iwona Pranke, Alexandre Hinzpeter, Aleksander Edelman, David N Sheppard, Isabelle Sermet-Gaudelus
J Physiol, 2022 Mar, PMID: 34761808 DOI: 10.1113/JP282143
– Lumacaftor-ivacaftor effects on cystic fibrosis-related liver involvement in adolescents with homozygous F508 del-CFTR.
David Drummond, Jérémy Dana, Laureline Berteloot, Elena K Schneider-Futschik, Frédérique Chedevergne, Céline Bailly-Botuha, Thao Nguyen-Khoa, Mathieu Cornet, Muriel Le Bourgeois, Dominique Debray, Muriel Girard, Isabelle Sermet-Gaudelus
J Cyst Fibros, 2022 Mar, PMID: 34454846 DOI: 10.1016/j.jcf.2021.07.018
2021
– Sweat Chloride Testing and Nasal Potential Difference (NPD) Are Primary Outcome Parameters in Treatment with Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators.
Isabelle Sermet-Gaudelus, Thao Nguyen-Khoa, Aurélie Hatton, Kate Hayes, Iwona Pranke
J Pers Med, 2021 Jul 27, PMID: 34442373 PMCID: PMC8398324 DOI: 10.3390/jpm11080729
– Prior infection by seasonal coronaviruses, as assessed by serology, does not prevent SARS-CoV-2 infection and disease in children, France, April to June 2020.
Isabelle Sermet-Gaudelus, Sarah Temmam, Christèle Huon, Sylvie Behillil, Vincent Gajdos, Thomas Bigot, Thibaut Lurier, Delphine Chrétien et al.
Euro Surveill, 2021 Apr, PMID: 33797390 PMCID: PMC8017906 DOI: 10.2807/1560-7917.ES.2021.26.13.2001782
– Modulators of CFTR. Updates on clinical development and future directions.
Emmanuelle Bardin, Alexandra Pastor, Michaela Semeraro, Anita Golec, Kate Hayes, Benoit Chevalier, Farouk Berhal, Guillaume Prestat, Alexandre Hinzpeter, Christine Gravier-Pelletier, Iwona Pranke, Isabelle Sermet-Gaudelus
Eur J Med Chem, 2021 Mar 5, PMID: 33524685 DOI: 10.1016/j.ejmech.2021.113195
– Author Correction: New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation.
Sara Bitam, Ahmad Elbahnsi, Geordie Creste, Iwona Pranke, Benoit Chevalier, Farouk Berhal, Brice Hoffmann, Nathalie Servel, Nesrine Baatalah, Danielle Tondelier, Aurelie Hatton
Sci Rep, 2021 Sep 15, PMID: 34526640 PMCID: PMC8443751 DOI: 10.1038/s41598-021-98301-4
2020
– [Focus on cystic fibrosis].
Isabelle Sermet-Gaudelus, Marlène Clairicia Pierre-Joseph, Aline Lustre, Annabelle Voltine, Hélène Roze
Rev Infirm, 2020 Jan, PMID: 32146956 DOI: 10.1016/j.revinf.2019.12.007
– A critical review of definitions used to describe Pseudomonas aeruginosa microbiological status in patients with cystic fibrosis for application in clinical trials.
G Taccetti, M Denton, K Hayes, ECFS-CTN Microbiology Group; P Drevinek, I Sermet-Gaudelus
J Cyst Fibros, 2020 Jan, PMID: 31526710 DOI: 10.1016/j.jcf.2019.08.014
– Insights into the variability of nasal potential difference, a biomarker of CFTR activity.
Spyridoula Kyrilli, Theophraste Henry, Michael Wilschanski, Isabelle Fajac, Jane C Davies, Jean-Philippe Jais, Isabelle Sermet-Gaudelus
J Cyst Fibros, 2020 Jul, PMID: 31699569 DOI: 10.1016/j.jcf.2019.09.015
– Current and future diagnosis of cystic fibrosis: Performance and limitations.
T Bienvenu, T Nguyen-Khoa
Arch Pediatr, 2020 Feb, PMID: 32172931 DOI: 10.1016/S0929-693X(20)30046-4
– Mucoviscidosis: fisiopatología, genética, aspectos clínicos y terapéuticos
S Noël, I Sermet-Gaudelus
EMC Pediatr, 2020 Mar, PMID: 32288518 PMCID: PMC7147672 DOI: 10.1016/S1245-1789(20)43427-4
– Urinary Exosomes of Patients with Cystic Fibrosis Unravel CFTR-Related Renal Disease.
Sebastien Gauthier, Iwona Pranke, Vincent Jung, Loredana Martignetti, Véronique Stoven, Thao Nguyen-Khoa, Michaela Semeraro, Alexandre Hinzpeter, Aleksander Edelman, Ida Chiara Guerrera, Isabelle Sermet-Gaudelus
Int J Mol Sci, 2020 Sep 10, PMID: 32927759 PMCID: PMC7554933 DOI: 10.3390/ijms21186625
– Suppressing »nonsense » in cystic fibrosis.
Alexandre Hinzpeter, Isabelle Sermet-Gaudelus, David N Sheppard
J Physiol, 2020 Feb, PMID: 31869855 DOI: 10.1113/JP279267
– Impact of COVID-19 on people with cystic fibrosis.
Carla Colombo, Pierre-Régis Burgel, Silvia Gartner, Silke van Koningsbruggen-Rietschel, Lutz Naehrlich, Isabelle Sermet-Gaudelus, Kevin W Southern
Lancet Respir Med, 2020 May, PMID: 32304639 PMCID: PMC7159857 DOI: 10.1016/S2213-2600(20)30177-6
2019
– Airway surface liquid acidification initiates host defense abnormalities in Cystic Fibrosis.
Simonin J, Bille E, Crambert G, Noel S, Dreano E, Edwards A, Hatton A, Pranke I, Villeret B, Cottart CH, Vrel JP, Urbach V, Baatallah N, Hinzpeter A, Golec A, Touqui L, Nassif X, Galietta LJV, Planelles G, Sallenave JM, Edelman A, Sermet-Gaudelus I.
Sci Rep. 2019 Apr 24;9(1):6516. doi: 10.1038/s41598-019-42751-4. PMID:31019198
– Mycobacterium bolletii Lung Disease in Cystic Fibrosis.
Rollet-Cohen V, Roux AL, Le Bourgeois M, Sapriel G, El Bahri M, Jais JP, Heym B, Mougari F, Raskine L, Véziris N, Gaillard JL, Sermet-Gaudelus I.
Chest. 2019 Aug;156(2):247-254. doi: 10.1016/j.chest.2019.03.019. Epub 2019 Mar 29. PMID:30935892
– Emerging Therapeutic Approaches for Cystic Fibrosis. From Gene Editing to Personalized Medicine.
Pranke I, Golec A, Hinzpeter A, Edelman A, Sermet-Gaudelus I.
Front Pharmacol. 2019 Feb 27;10:121. doi: 10.3389/fphar.2019.00121. eCollection 2019. Review. PMID:30873022
– Chronic Staphylococcus aureus lung infection correlates with proteogenomic and metabolic adaptations leading to an increased intracellular persistence.
Tan X, Coureuil M, Ramond E, Euphrasie D, Dupuis M, Tros F, Meyer J, Nemazanyy I, Chhuon C, Guerrera IC, Ferroni A, Sermet-Gaudelus I, Nassif X, Charbit A, Jamet A.
Clin Infect Dis. 2019 Feb 7. doi: 10.1093/cid/ciz106. PMID:30753350
– Predictive factors for lumacaftor/ivacaftor clinical response.
Masson A, Schneider-Futschik EK, Baatallah N, Nguyen-Khoa T, Girodon E, Hatton A, Flament T, Le Bourgeois M, Chedevergne F, Bailly C, Kyrilli S, Achimastos D, Hinzpeter A, Edelman A, Sermet-Gaudelus I.
J Cyst Fibros. 2019 May;18(3):368-374. doi: 10.1016/j.jcf.2018.12.011. Epub 2018 Dec 28. PMID:30595473
– Antisense oligonucleotide eluforsen improves CFTR function in F508del cystic fibrosis.
Sermet-Gaudelus I, Clancy JP, Nichols DP, Nick JA, De Boeck K, Solomon GM, Mall MA, Bolognese J, Bouisset F, den Hollander W, Paquette-Lamontagne N, Tomkinson N, Henig N, Elborn JS, Rowe SM.
J Cyst Fibros. 2019 Jul;18(4):536-542. doi: 10.1016/j.jcf.2018.10.015. Epub 2018 Nov 19. PMID:30467074
2018
– Increased expression of ATP12A proton pump in cystic fibrosis airways.
Scudieri P, Musante I, Caci E, Venturini A, Morelli P, Walter C, Tosi D, Palleschi A, Martin-Vasallo P,Sermet-Gaudelus I, Planelles G, Crambert G, Galietta LJ.
JCI Insight. 2018 Oct 18;3(20). pii: 123616. doi: 10.1172/jci.insight.123616.
PMID:30333310
– Structure-guided combination therapy to potently improve the function of mutant CFTRs.
Veit G, Xu H, Dreano E, Avramescu RG, Bagdany M, Beitel LK, Roldan A, Hancock MA, Lay C, Li W, Morin K, Gao S, Mak PA, Ainscow E, Orth AP, McNamara P, Edelman A, Frenkiel S, Matouk E, Sermet-Gaudelus I, Barnes WG, Lukacs GL.
Nat Med. 2018 Nov;24(11):1732-1742. doi: 10.1038/s41591-018-0200-x. Epub 2018 Oct 8. PMID:30297908
– Correction to: In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study.
Sermet-Gaudelus I, Renouil M, Fajac A, Bidou L, Parbaille B, Pierrot S, Davy N, Bismuth E, Reinert P, Lenoir G, Lesure JF, Rousset JP, Edelman A.
BMC Med. 2018 Aug 25;16(1):159. doi: 10.1186/s12916-018-1138-z. PMID:30143037
– Comparative proteomics of respiratory exosomes in cystic fibrosis, primary ciliary dyskinesia and asthma.
Rollet-Cohen V, Bourderioux M, Lipecka J, Chhuon C, Jung VA, Mesbahi M, Nguyen-Khoa T, Guérin-Pfyffer S, Schmitt A, Edelman A, Sermet-Gaudelus I, Guerrera IC.
J Proteomics. 2018 Aug 15;185:1-7. doi: 10.1016/j.jprot.2018.07.001. Epub 2018 Jul 3. PMID:30032860
– ECFS best practice guidelines: the 2018 revision.
Castellani C, Duff AJA, Bell SC, Heijerman HGM, Munck A, Ratjen F, Sermet-Gaudelus I, Southern KW, Barben J, Flume PA, Hodková P, Kashirskaya N, Kirszenbaum MN, Madge S, Oxley H, Plant B, Schwarzenberg SJ, Smyth AR, Taccetti G, Wagner TOF, Wolfe SP, Drevinek P.
J Cyst Fibros. 2018 Mar;17(2):153-178. doi: 10.1016/j.jcf.2018.02.006. Epub 2018 Mar 3. Review. PMID:29506920
– Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.
Pranke I, Bidou L, Martin N, Blanchet S, Hatton A, Karri S, Cornu D, Costes B, Chevalier B, Tondelier D, Girodon E, Coupet M, Edelman A, Fanen P, Namy O, Sermet-Gaudelus I, Hinzpeter A.
ERJ Open Res. 2018 Feb 23;4(1). pii: 00080-2017. doi: 10.1183/23120541.00080-2017. eCollection 2018 Jan. Erratum in: ERJ Open Res. 2018 Jul 13;4(3):. PMID:29497617
– Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.
Baatallah N, Bitam S, Martin N, Servel N, Costes B, Mekki C, Chevalier B, Pranke I, Simonin J, Girodon E, Hoffmann B, Mornon JP, Callebaut I, Sermet-Gaudelus I, Fanen P, Edelman A, Hinzpeter A.
Hum Mutat. 2018 Apr;39(4):506-514. doi: 10.1002/humu.23389. Epub 2018 Jan 16.
PMID:29271547
– Multifocal fixed drug eruption to ceftazidime in a child with cystic fibrosis.
Ben Mansour A, Bellon N, Frassati-Biaggi A, Sermet-Gaudelus I, Ponvert C, de Blic J, Lezmi G.
Pediatr Allergy Immunol. 2018 Feb;29(1):115-117. doi: 10.1111/pai.12829. Epub 2017 Nov 28. No abstract available.
PMID:29047164
– Pseudomonas aeruginosa LasB protease impairs innate immunity in mice and humans by targeting a lung epithelial cystic fibrosis transmembrane regulator-IL-6-antimicrobial-repair pathway.
Saint-Criq V, Villeret B, Bastaert F, Kheir S, Hatton A, Cazes A, Xing Z, Sermet-Gaudelus I, Garcia-Verdugo I, Edelman A, Sallenave JM.
Thorax. 2018 Jan;73(1):49-61. doi: 10.1136/thoraxjnl-2017-210298. Epub 2017 Aug 8. PMID:28790180
2017
– Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E.
Arch Pediatr. 2017 Dec;24(12):e1-e14. doi: 10.1016/j.arcped.2017.07.015. Epub 2017 Nov 22. PMID:29174009
– Omalizumab treatment for allergic bronchopulmonary aspergillosis in young patients with cystic fibrosis.
Perisson C, Destruys L, Grenet D, Bassinet L, Derelle J, Sermet-Gaudelus I, Thumerelle C, Prevotat A, Rosner V, Clement A, Corvol H.
Respir Med. 2017 Dec;133:12-15. doi: 10.1016/j.rmed.2017.11.007. Epub 2017 Nov 10. PMID:29173443
– The suppression of premature termination codons and the repair of splicing mutations in CFTR.
Oren YS, Pranke IM, Kerem B, Sermet-Gaudelus I.
Curr Opin Pharmacol. 2017 Jun;34:125-131. doi: 10.1016/j.coph.2017.09.017. Epub 2017 Nov 10. Review. PMID:29128743
– Pain is an underestimated symptom in cystic fibrosis.
Masson A, Kirszenbaum M, Sermet-Gaudelus I.
Curr Opin Pulm Med. 2017 Nov;23(6):570-573. doi: 10.1097/MCP.0000000000000427. Review. PMID:28806187
– Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators.
Pranke IM, Hatton A, Simonin J, Jais JP, Le Pimpec-Barthes F, Carsin A, Bonnette P, Fayon M, Stremler-Le Bel N, Grenet D, Thumerel M, Mazenq J, Urbach V, Mesbahi M, Girodon-Boulandet E, Hinzpeter A, Edelman A, Sermet-Gaudelus I.
Sci Rep. 2017 Aug 7;7(1):7375. doi: 10.1038/s41598-017-07504-1. PMID:28785019
– A multiple reader scoring system for Nasal Potential Difference parameters.
Solomon GM, Liu B, Sermet-Gaudelus I, Fajac I, Wilschanski M, Vermeulen F, Rowe SM.
J Cyst Fibros. 2017 Sep;16(5):573-578. doi: 10.1016/j.jcf.2017.04.011. Epub 2017 Apr 29. PMID:28465124
– [Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].
Sermet-Gaudelus I, Brouard J, Audrézet MP, Couderc Kohen L, Weiss L, Wizla N, Vrielynck S, LLerena K, Le Bourgeois M, Deneuville E, Remus N, Nguyen-Khoa T, Raynal C, Roussey M, Girodon E.
Arch Pediatr. 2017 Apr;24(4):401-414. doi: 10.1016/j.arcped.2017.01.019. Epub 2017 Mar 1. French. PMID:28258861
– Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation.
Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, Howenstine M, McColley SA, Rock M, Rosenfeld M, Sermet-Gaudelus I, Southern KW, Marshall BC, Sosnay PR.
J Pediatr. 2017 Feb;181S:S4-S15.e1. doi: 10.1016/j.jpeds.2016.09.064. Erratum in: J Pediatr. 2017 May;184:243. PMID:28129811
– Diagnosis of Cystic Fibrosis in Screened Populations.
Farrell PM, White TB, Howenstine MS, Munck A, Parad RB, Rosenfeld M, Sommerburg O, Accurso FJ, Davies JC, Rock MJ, Sanders DB, Wilschanski M, Sermet-Gaudelus I, Blau H, Gartner S, McColley SA.
J Pediatr. 2017 Feb;181S:S33-S44.e2. doi: 10.1016/j.jpeds.2016.09.065. PMID:28129810
2016
– [New therapeutic developments in cystic fibrosis].
Bui S, Macey J, Fayon M; « nouvelles thérapeutiques de la Société Française pour la Mucoviscidose », Bihouée T, Burgel PR, Colomb V, Corvol H, Durieu I, Hubert D, Marguet C, Mas E, Munck A, Murris-Espin M, Reix P, Sermet-Gaudelus I.
Arch Pediatr. 2016 Dec;23(12S):12S47-12S53. doi: 10.1016/S0929-693X(17)30062-3. Review. French. PMID:28231894
Patient associations
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2023
Marine Lorphelin: « Thanks to treatment, cystic fibrosis patients can resume physical activity ».
Pourquoi Docteur | 12.06.2023
As 2023 draws to a close, what treatment options are available for children suffering from cystic fibrosis? We talk to the association Vaincre la Mucoviscidose and its 2023 godmother Marine Lorphelin.
> Read more
Cystic fibrosis : how a treatment has revolutionised the lives of sufferers
Le Figaro | 12.06.2023
Kaftrio, which is now available from the age of 2, could transform 85% of patients suffering from this dreaded and fatal respiratory and digestive pathology into a chronic and stable disease.
> Read more
Cystic fibrosis : a revolutionary treatment extended to children aged 2 to 5
Var-Matin | 12.06.2023
Kaftrio, an innovative treatment for this rare and incurable genetic disease, has just been approved for children aged 2 to 5.
> Read more
« It’s a dream come true », a revolutionary treatment for cystic fibrosis available to young children
Franceinfo | 12.06.2023
Kaftrio has just been authorised for children aged 2 to 5 suffering from this rare and incurable genetic disease.
> Read more
Cystic fibrosis : forty years of life expectancy gained in half a century of research
Le Monde | 02.06.2023
Kaftrio, a triple therapy authorized in France for patients over 6 years of age since December 2022, is revolutionizing the management of patients with this genetic disease. However, it is not suitable for all patients, and its long-term effects are not known.
> Read more
2018
Cystic fibrosis : steady progress
Paris Match | 11.13.2018
Considerable progress, commented on by Pr Isabelle Sermet-Gaudelus, has been made in its treatment.
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Cystic fibrosis : How the multidisciplinary team at Necker ensures a peaceful return to school for Pierre and his mother
20minutes.fr | 9.25.2018
On the occasion of the 34th Virades de l’espoir, « 20 Minutes » was able to visit the center dedicated to this rare disease and meet the various professionals who surround Claire and her family …
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2016
Cystic fibrosis : promising new treatments?
Handicap.fr | 9.23.2016
Among the projects supported, that of Pr Isabelle Sermet-Gaudelus and her team at Inserm (National Institute for Health and Medical Research) aims to better target treatments. Promising treatments are arriving on the market, such as Orkambi, from the French laboratory Vertex, but « patients respond to them very differently », underlines the researcher, also a pediatrician at the Necker hospital (Paris). Testing the treatment on cells in the nasal mucosa of patients makes it possible to “predict their clinical response” and “not to treat those who will not benefit from it”, added the researcher.
> Read more
- Sport and cystic fibrosis
How important is it to highlight rare diseases to primary care physicians? How were the benefits of going to the seaside for cystic fibrosis patients discovered? What are the practical applications? How can we benefit from the advances in knowledge in this field? What is the origin of the creation of the association Etoiles des Neiges? What are the objectives of the association? Where does the association practice? What are the benefits of practicing sports and particularly surfing for cystic fibrosis patients?
Dr Guillaume Barucq, general practitioner on the Basque coast, passionate about surfing and involved in the practice of sports in general and surfing in particular for therapeutic purposes; Marianne Brechu, former international skier, founding president of the association Etoiles des Neiges; and Chiara, a young and very active patient suffering from cystic fibrosis and surfer, answer your questions.
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Cystic fibrosis : new patients to benefit from combination of Kaftrio and Kalydeco film-coated tablets
ANSM | 06.01.2023
Since June 1, 2023, the compassionate prescribing framework (CPC) for Kaftrio and Kalydeco has been extended to cystic fibrosis patients without an F508del mutation, from the age of 6, regardless of the severity of the disease.
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Cystic fibrosis treatment: Kaftrio/Kalydeco could be effective in almost half of patients without F508del mutation
AP-HP | 04.13.2023
A team from the pneumology department/rare diseases reference center for cystic fibrosis at the Cochin-Port Royal AP-HP Hospital, Inserm and Université Paris Cité, coordinated by Pr Pierre-Régis Burgel, has studied the efficacy of a treatment (Kaftrio/Kalydeco) for cystic fibrosis in patients who do not currently benefit from it due to the absence of an F508del mutation.
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21 mars 2020
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Contact information
Necker-Enfants malades university hospital
> Pediatric pneumology and allergology department
Cystic fibrosis functional unit
149 rue de Sèvres
75743 PARIS Cedex 15
In Necker, the reference center for cystic fibrosis in brief …
* data valid for 2022
