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 Cochin hospital, created in 2002 and labeled national coordinator site in 2017, is part of the pneumology service. It includes a multidisciplinary team of physicians and paramedics. It benefits from hospitalization beds in pneumology and in the respiratory continuing care unit (CCU) as well as a day hospital. Since January 2019, the lung transplant unit has been opened.
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).
Keywords : Cystic fibrosis, CFTR, Dilation of bronchi, Aquagenic dermatosis, Pancreatitis, Sinusitis, Congenital bilateral agenesis of vas deferens, Lung transplant.
Medical team
Head of the reference center
Pr Pierre-Régis Burgel
MD, PhD
Contact us
In case of emergency
Among the center’s missions :
- Coordination of the national reference center for cystic fibrosis and conditions linked to a CFTR abnormality (47 cystic fibrosis centers in France)
- Regular monitoring of adult patients with cystic fibrosis
- Regular monitoring of adult patients with cystic fibrosis and lung transplant recipients
- Hospitalization in case of aggravation
- The development of treatment protocols and patient care
- Therapeutic education
- Evaluation of practices
- Participation in clinical and basic research
- The training of doctors and paramedics for the specific follow-up of patients with cystic fibrosis
- The establishment of outpatient care networks
Genetic aspects of cystic fibrosis
Cystic fibrosis (or cystic fibrosis of the pancreas) is an inherited genetic disease with autosomal recessive transmission: only subjects who have inherited two mutations – one from the father, the other from the mother – are affected.
The gene responsible for the disease, called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene was identified in 1989; it is located on the long arm of chromosome 7 (7q31) and codes for the CFTR protein involved in the regulation of chloride ion transport at the level of the cell membrane. More than 2,000 mutations have been identified to date, of which the most common (encountered in around 80% of patients in France) is the F508del mutation.
Screening for cystic fibrosis
Symptoms and sweat test
Before the establishment of systematic newborn screening, the diagnosis was most often mentioned, after a period of diagnostic wandering of varying length, in front of signs of clinical calls (meconium ileus, fatty diarrhea, congestion and / or recurrent respiratory tract infections) and confirmed by a positive sweat test showing a high level of chloride ions in the sweat. This was supplemented by molecular analysis of the CFTR gene and the search for the mutations involved.
Systematic newborn screening
Since 2002, systematic newborn screening has been extended to the entire metropolitan territory as well as to overseas France. The ministry of Health has entrusted the care to the French Association for the Screening and Prevention of Childhood Handicaps (AFDPHE). The screening algorithm uses the blood test for immunoreactive trypsinogen (IRT) and the search for the most frequent CFTR mutations (30 then 29 since 01/01/2015). IRT is a protein that is most abundant in pancreatic abnormalities during fetal life and the first months of life. Its dosage makes it possible to detect around 95% of newborns with cystic fibrosis; however, the insufficient specificity of the IRT assay (which also selects children who do not have cystic fibrosis) explains the need for coupling to molecular analysis.
After searching for the main CFTR mutations, three cases can arise :
- two mutations are identified. The newborn baby and his parents are called to a cystic fibrosis resource and skills center (CRCM) for confirmation of the diagnosis based on clinical evaluation and a positive sweat test, as well as for the establishment of the treatment and follow-up ;
- only one mutation is identified (the risk of a second mutation not being identified is approximately 10%). The sweat test should be carried out in a specialized center. If the test is positive, the child is cared for like those in the previous group. If the test is negative, information on the heterozygosity of the newborn will be given to the parents during a genetic counseling consultation ;
- no mutation was found and the IRT was very high, an IRT control by blood sample on a blotter around 21 days of life is performed. The persistence of an elevated IRT on D21 will lead to a consultation in a specialized center for additional evaluation (sweat test). A sweat test with questionable (“intermediate”) results should be repeated.
If the genetic study is not carried out (absence of parental consent on the back of the Guthrie blotter), in the event of an IRT above the threshold, an IRT control by blood sample on a blotter around 21 days of life is performed and in case of persistence of a high IRT, this will lead to a consultation in a specialized center for additional evaluation (sweat test).
Disease manifestations and treatments in cystic fibrosis
Cystic fibrosis is expressed in various ways
The abnormal functioning of CFTR is expressed mainly in the respiratory tract, digestive tract, liver, sweat glands and genital tract. From one patient to another, there is a great diversity of clinical expression, both in the age of onset of the first symptoms and in the severity of the course; the severity of the respiratory disease determines the vital prognosis in the majority of cases.
Treat the symptoms … and one day the causes of cystic fibrosis
Symptomatic treatments – very restrictive – are mainly based on respiratory care on the one hand (physiotherapy, inhaled treatments, antibiotic therapy, oxygen therapy), digestive and nutritional on the other hand (pancreatic extracts and diet). Lung transplantation is the treatment of last resort for severe respiratory failure. In recent years, “new therapies” targeting dysfunctions linked to certain CFTR mutations (modulatory or corrective treatments) have targeted the causal mechanism of the disease. Therapeutic education is an integral part of multidisciplinary care.
- Pr Pierre-Régis Burgel – Pulmonologist, head of the reference center
- Dr Véronique Boussaud – Pulmonologist
- Dr Nicolas Carlier – Pulmonologist
- Dr Isabelle Honoré – Pulmonologist
- Dr Dominique Hubert – Pulmonologist
- Dr Reem Kanaan – Pulmonologist
- Dr Clémence Martin – Pulmonologist
- Pr Philippe Sogni – Gastroenterologist
- Dr Helen Mosnier-Pudar – Endocrinologist
- Djamila Ali Mehidi – State registered nurse
- Espérie Burnet – State registered nurse
- Juliette Champreux – State registered nurse
- Christian Dupont – State registered nurse
- Christelle Légier – State registered nurse
- Rosewilta Panzo – State registered nurse
- Bérénice Prieur – Psychologist
- Alicia Malongo – Social worker
- Deborah Grunewald – Dietitian
- Delphine Lahoreau – Dietitian
- Anne-Lise Bassetti – Physiotherapist
- Raphaël Regnault – Adapted physical activities
- Alexandre Arcamone – Osteopath
- Cathy Maze – Medical secretary
- Jocelyne Rémy – Medical secretary
- Linda Aubry – Caregiver
- Virginie Meynard – Caregiver
- Céline Précart – Caregiver
- Individual educational sessions due to the risk of bacterial transmission from one patient to another (respiratory infections of cystic fibrosis with potentially epidemic bacteria)
RESEARCH
The reference center for cystic fibrosis is involved in research at several levels :
- Basic research on anti-infectious immunity in acute and chronic lung infection. Institut Cochin, Inserm U1016, University of Paris, Chiche-Burgel team
- Industrial clinical trials : Functional explorations research center (Pr Isabelle Fajac). Center labeled by the European Cystic Fibrosis Society (Société Européenne de Mucoviscidose).
- Cohorts and observational clinical studies : national coordination of cohorts evaluating the effects of CFTR modulators under real conditions of use in patients 12 years of age and older.
Non-industrial projects
- Etude CIMENT : 2017-A0025-48 (CRMR Cochin APHP) – In progress
- MUCO-TM6 N° IDRC 0142015A00387 (CRMR Cochin APHP) – Finalized
- CF MATTERS European Union’s Seventh Framework Programme (FP7/2007-2013) (CRMR Cochin APHP) – Finalized
- Etude nationale ORKAMBI : NCT03475381 avec ses études ancillaires multiples (imagerie, indice de clairance pulmonaire, niveau
de VEMS et réponse thérapeutique) (CRMR Cochin APHP) – Finalized - Etude nationale ATU elexacaftor-tezacaftor-ivacaftor (CRMR Cochin APHP) – In progress
Projets industriels
- Vertex VX14-661-110 NCT02565914 (Vertex)
- Proteostasis PTI-808-01 NCT03251092 (Proteostasis) – In progress
- Spyryx SPX-101-CF-201 NCT03229252 (Spyryx) – In progress
- Corbus JBT101-CF-002 NCT03451045 (Vertex) – In progress
- Vertex VX17-445-102 NCT03525444 (Vertex) – Finalized
- Vertex VX17-445-105 NCT03525574 (Vertex) – Finalized
- Vertex VX18-445-104 NCT04058353 (Vertex) – Finalized
Cohorts
- 1,100 patients included in research programs
EDUCATION
2022
– Cystic Fibrosis in 2021: \ »The Times They Are A-Changin\ ».
Lucile Regard, Clémence Martin, Pierre-Régis Burgel
Arch Bronconeumol, 2022 Jul, PMID: 35312571 DOI: 10.1016/j.arbres.2021.09.011
2021
– Improved survival albeit with persistent disparities in prognosis for people with cystic fibrosis in European countries.
Clémence Martin, Pierre-Régis Burgel
Eur Respir J, 2021 Oct 1, PMID: 34598976 DOI: 10.1183/13993003.01487-2021
– Reply to Kuek et al.: Optimism with Caution: Elexacaftor-Tezacaftor-Ivacaftor in Patients with Advanced Pulmonary Disease.
Pierre-Régis Burgel, Jennifer Da Silva, Jean-Louis Paillasseur, Clémence Martin
Am J Respir Crit Care Med, 2021 Aug 1, PMID: 33951399 PMCID: PMC8513580 DOI: 10.1164/rccm.202103-0796LE
– Rapid Improvement after Starting Elexacaftor-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease.
Pierre-Régis Burgel, Isabelle Durieu, Raphaël Chiron, Sophie Ramel, Isabelle Danner-Boucher, Anne Prevotat, Dominique Grenet, Christophe Marguet, Martine Reynaud-Gaubert, Julie Macey, Laurent Mely, Annlyse Fanton
Am J Respir Crit Care Med, 2021 Jul 1, PMID: 33600738 DOI: 10.1164/rccm.202011-4153OC
– Effective control of Staphylococcus aureus lung infection despite tertiary lymphoid structure disorganisation.
Lucile Regard, Clémence Martin, Jean-Luc Teillaud, Hélène Lafoeste, Hugues Vicaire, Maha Zohra Ladjemi, Emilie Ollame-Omvane, Sophie Sibéril, Pierre-Régis Burgel
Eur Respir J, 2021 Apr 15, PMID: 33093122 DOI: 10.1183/13993003.00768-2020
– Using chest CT scan and unsupervised machine learning for predicting and evaluating response to lumacaftor-ivacaftor in people with cystic fibrosis.
Alienor Campredon, Enzo Battistella, Clémence Martin, Isabelle Durieu, Laurent Mely, Christophe Marguet, Chantal Belleguic, Marlène Murris-Espin, Raphaël Chiron, Annlyse Fanton, Stéphanie Bui et al.
Eur Respir J, 2021 Nov 18, PMID: 34795038 DOI: 10.1183/13993003.01344-2021
– Clinical response to lumacaftor-ivacaftor in patients with cystic fibrosis according to baseline lung function.
Pierre-Régis Burgel, Isabelle Durieu, Raphaël Chiron, Laurent Mely, Anne Prevotat, Marlene Murris-Espin, Michele Porzio, Michel Abely, Philippe Reix, Christophe Marguet, Julie Macey, Isabelle Sermet-Gaudelus, Harriet Corvol, Stéphanie Bui et al.
J Cyst Fibros, 2021 Mar, PMID: 32591294 DOI: 10.1016/j.jcf.2020.06.012
– Long-term amikacin liposome inhalation suspension in cystic fibrosis patients with chronic P. aeruginosa infection.
Diana Bilton, Isabelle Fajac, Tacjana Pressler, John Paul Clancy, Dorota Sands, Predrag Minic, Marco Cipolli, Ivanka Galeva, Amparo Solé, Alexandra L Quittner, Zhanna Jumadilova, Monika Ciesielska, Michael W Konstan, CLEAR-110 Study Group
J Cyst Fibros, 2021 Nov, PMID: 34144923 PMCID: PMC9076322 DOI: 10.1016/j.jcf.2021.05.013
– Therapeutic Approaches for Patients with Cystic Fibrosis Not Eligible for Current CFTR Modulators.
Isabelle Fajac, Isabelle Sermet
Cells, 2021 Oct 19, PMID: 34685773 PMCID: PMC8534516 DOI: 10.3390/cells10102793
– Triple Therapy for Cystic Fibrosis Phe508del-Gating and -Residual Function Genotypes.
Peter J Barry, Marcus A Mall, Antonio Álvarez, Carla Colombo, Karin M de Winter-de Groot, Isabelle Fajac, Kimberly A McBennett, Edward F McKone, Bonnie W Ramsey, Sivagurunathan Sutharsan, Jennifer L Taylor-Cousar, Elizabeth Tullis et al.
N Engl J Med, 2021 Aug 26, PMID: 34437784 PMCID: PMC8982185 DOI: 10.1056/NEJMoa2100665
2020
– Airway mucus accumulation in COPD: the cholinergic paradox!
Pierre-Régis Burgel
Eur Respir J, 2020 Jan 30, PMID: 32001501 DOI: 10.1183/13993003.02473-2019
– Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
A Pagin, I Sermet-Gaudelus, P-R Burgel
Arch Pediatr, 2020 Feb, PMID: 32172933 DOI: 10.1016/S0929-693X(20)30047-6
– Genomically-guided therapies: A new era for cystic fibrosis.
I Fajac, E Girodon
Arch Pediatr, 2020 Feb, PMID: 32172937 DOI: 10.1016/S0929-693X(20)30050-6
– Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
A Boussaroque, M-P Audrézet, C Raynal, I Sermet-Gaudelus, T Bienvenu, C Férec, A Bergougnoux, M Lopez, V Scotet, A Munck, E Girodon
J Cyst Fibros, 2020 Nov, PMID: 32327388 DOI: 10.1016/j.jcf.2020.03.019
– Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.
Thierry Bienvenu, Maureen Lopez, Emmanuelle Girodon
Genes (Basel), 2020 Jun 4, PMID: 32512765 PMCID: PMC7349214 DOI: 10.3390/genes11060619
– Carriers of a single CFTR mutation are asymptomatic: an evolving dogma?
Clémence Martin, Pierre-Régis Burgel
Eur Respir J, 2020 Sep 10, PMID: 32912926 DOI: 10.1183/13993003.02645-2020
– Clinical interpretation of SPINK1 and CTRC variants in pancreatitis.
Emmanuelle Girodon, Vinciane Rebours, Jian Min Chen, Adrien Pagin, Philippe Levy, Claude Ferec, Thierry Bienvenu
Pancreatology, 2020 Oct, PMID: 32948427 DOI: 10.1016/j.pan.2020.09.001
– The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.
Anne Bergougnoux, Maureen Lopez, Emmanuelle Girodon
Int J Neonatal Screen, 2020 Mar 21, PMID: 33073020 PMCID: PMC7422980 DOI: 10.3390/ijns6010023
– An innovative phase II trial to establish proof of efficacy and optimal dose of a new inhaled epithelial sodium channel inhibitor BI 1265162 in adults and adolescents with cystic fibrosis: BALANCE-CF TM 1.
Christopher H Goss, Raksha Jain, Wolfgang Seibold, Anne-Caroline Picard, Ming-Chi Hsu, Abhya Gupta, Isabelle Fajac
ERJ Open Res, 2020 Dec 7, PMID: 33313307 PMCID: PMC7720689 DOI: 10.1183/23120541.00395-2020
– The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.
Anne Bergougnoux, Maureen Lopez, Emmanuelle Girodon
Int J Neonatal Screen, 2020 Mar 21, PMID: 33073020 PMCID: PMC7422980 DOI: 10.3390/ijns6010023
– First Wave of COVID-19 in French Patients with Cystic Fibrosis
Corvol H, de Miranda S, Lemonnier L, Kemgang A, Reynaud Gaubert M, Chiron R, Dalphin ML, Durieu I, Dubus JC , Houdouin V, Prevotat A, Ramel S, Revillion M, Weiss L, Guillot L, Boelle PY, Burgel PR
J Clin Med, 2020 Nov 10, PMID: 33182847 PMCID: PMC7697588 DOI: 10.3390/jcm9113624
– Quantification of Cystic Fibrosis Lung Disease with Radiomics-based CT Scores
Chassagnon G, Zacharaki EI, Bommart S, Burgel PR, Chiron R, Dangeard S, Paragios N, Martin C, Revel MP.
Radiology Cardiothorac Imaging, 2020 Dec 17, DOI : 10.1148/ryct.2020200022
– Effective control of S. aureus lung infection despite tertiary lymphoid structures disorganization
Regard L, Martin C, Teillaud JL, Lafoeste H, Vicaire H, Ladjemi MZ, Ollame-Omvane E, Sibéril S, Burgel PR
Eur Resp J, 2020 Oct 22, PMID: 33093122 DOI: 10.1183/13993003.00768-2020
– Lung immunoglobulin A immunity dysregulation in cystic fibrosis
Collin AM, Lecocq M, Noel S, Detry B, Carlier FM, Nana FA, Bouzin C, Leal T, Vermeersch M, de Rose V, Regard L, Martin C, Burgel PR, Hoton D, Verleden S, Froidure A, Pilette C, Gohy S.
EBioMedicine, 2020 Oct, PMID: 32927272, PMCID: PMC7495088, DOI: 10.1016/j.ebiom.2020.102974
– Reduced Intestinal Inflammation with Lumacaftor/Ivacaftor in Adolescents with Cystic Fibrosis
Tétard C, Mittaine M, Bui S, Beaufils F, Maumus P, Fayon M, Burgel PR, Lamireau T, Delhaes L, Mas E, Enaud R.
J Pediatr Gastroenterol Nutr, 2020 Dec, PMID: 32740537 DOI: 10.1097/MPG.0000000000002864
– Clinical response to lumacaftor-ivacaftor in patients with cystic fibrosis according to baseline lung function
Burgel PR, Durieu I, Chiron R, Mely L, Prévotat A, Murris-Espin M, Porzio M, Abely M, Reix P, Marguet C, Macey J, Sermet-Gaudelus I, Corvol H, Bui S, Biouhee T, Hubert D, Munck A, Lemonnier L, Dehillotte C, Da Silva J, Paillasseur JL, Martin C
J Cyst Fibros, 2020 Jun 23, PMID: 32591294, DOI: 10.1016/j.jcf.2020.06.012
– Real-life safety and effectiveness of lumacaftor-ivacaftor in patients with cystic fibrosis
Burgel PR, Munck A, Durieu I, Chiron R, Mely L, Prevotat A, Murris-Espin M, Porzio M, Abely M, Reix P, Marguet C, Macey J, Sermet-Gaudelus I, Corvol H, Bui S, Lemonnier L, Dehillotte C, Da Silva J, Paillasseur JL, Hubert D
Am J Respir Crit Care Med, 2020 Jan 15, PMID: 31601120 DOI: 10.1164/rccm.201906-1227OC
2019
– Cluster and CART analyses identify large subgroups of adults with cystic fibrosis at low risk of 10-year death.
Burgel, PR ; Lemonnier, L ; Dehillotte, C ; Sykes, J ; Stanojevic, S ; Stephenson, AL & al
Eur Respir J, 2019 Mar 14, PMID: 30578399 DOI: 10.1183/13993003.01943-2018
– Acute and chronic non-pulmonary complications in adults with cystic fibrosis.
Regard, L ; Martin, C ; Chassagnon, G ; Burgel, PR
Expert Rev Respir Med, 2019 Jan, PMID: 30472915 DOI: 10.1080/17476348.2019.1552832
– CFTR gene variants: a predisposition factor to aquagenic palmoplantar keratoderma.
Raynal, C ; Girodon, E ; Audrezet, MP ; Cabet, F ; Pagin, A ; Reboul, MP & al
Br J Dermatol, 2019 Nov, PMID: 31310009 DOI: 10.1111/bjd.18162
– Pitfalls in the interpretation of CFTR variants in the context of incidental findings.
Boussaroque, A ; Bergougnoux, A ; Raynal, C ; Audrézet, MP ; Sasorith, S ; Férec, C & al
Hum Mutat, 2019 Dec, PMID: 31350925 DOI: 10.1002/humu.23884
– Pregnancy after lung and heart-lung transplantation: a French multicentre retrospective study of 39 pregnancies.
Bry, C ; Hubert, D ; Reynaud-Gaubert, M ; Dromer, C ; Mal, H ; Roux, A & al
ERJ Open Res, 2019 Oct 30, PMID: 31687369 PMCID: PMC6819984 DOI: 10.1183/23120541.00254-2018
– Cumulative radiation dose after lung transplantation in patients with cystic fibrosis.
Fitton, I ; Revel, MP ; Burgel, PR ; Hernigou, A ; Boussaud, V ; Guillemain, R & al
Diagn Interv Imaging, 2019 May, PMID: 30711497 DOI: 10.1016/j.diii.2018.12.006
– Validation of the French 3-year prognostic score using the Canadian Cystic Fibrosis registry.
Coriati, A ; Sykes, J ; Nkam, L ; Hocine, MN ; Burgel, PR ; Stephenson, AL
J Cyst Fibros, 2019 May, PMID: 30396836 DOI: 10.1016/j.jcf.2018.10.014
- Janv. 2019 – 23e édition du Congrès de Pneumologie de Langue Française – Pr P.R. BURGEL – Dr C. MARTIN – National
- 18 Jan. Pour diminuer les complications liées aux cathéters veineux – C. DUPONT – National
- 26 Jan. CPLF team, équipe dédiée au cathétérisme, unité vasculaire – C. DUPONT – National
- 31 janv. GIFAV. Utilisation des VVC et soins post-opératoires avec indications et techniques de pansements – C. DUPONT – National
- 07-08 Fév. – ERS Research Seminar on the interaction between airways disease and bronchiectasis – Pr P.R. BURGEL – International
- 13-14 Mars – ERN-LUNG Board Meeting at University Hospital Frankfurt – Pr P.R. BURGEL – International
- 16 Mars – Libres Echanges ORL – Dr C. MARTIN – National
- 27 Mars Journée des Jeunes Médecins de la Mucoviscidose – Dr C. MARTIN – National
- Avril 2019 – Journée scientifique_AMCAP_Association des Médecins Conseils en Assurances de Personnes – Pr P.R. BURGEL – National
- 12 et 15 Avril – Formation DIVLD à destination des IDE, IBODE et IDE – C. DUPONT – National
- 09 Mai Board National Respiratoire – Pr P.R. BURGEL – National
- 18-22 Mai 2019 – ATS Dallas – Pr P.R. BURGEL – International
- 21 au 23 mai Salon Infirmier – Le pansement de cathéter veineux et ses enjeux » et « Insertion des CVP C. DUPONT – National
- 5-6-7-8 juin 2019 : Participation à l’ECFC à Liverpool (le 7 juin, présentation orale de 20 minutes – symposium soins palliatifs avec Bérénice Prieur)
- 13-14-15 juin 2019 : Participation au congrès de la Société Francophone des Soins Palliatifs
- 20 Juin 2019 : Journée des Libéraux au CRCM
- Juin 2019 – 42nd ECFS Conference – Pr P.R. BURGEL – Dr C. MARTIN – International
- 26 Août – Conférence Small airway disease et sa prévalence et importance dans la prise en charge de l’asthme – Pr P.R. BURGEL – International
- “1st Adult Cystic Fibrosis International Workshop” – Milan from 5th to 6th September 2019 – Pr P.R. BURGEL – International
- GREPI – Sept. 2019 – Pr P.R. BURGEL – Dr C. MARTIN – National
- ERS International Congress Sept. 2019 – CICERO – Pr P.R. BURGEL – International
- 24 Sept. Réunion médecins généralistes du 14 eme – Mise au point sur la prise en charge de la BPCO – Dr C. MARTIN – National
- 26 Sept 2019 – Bronchiectasis Expert Meeting – Madrid – Pr P.R. BURGEL- International
- 27 Sept. 02. Oct. 2019 ERS Madrid International Congress – Pr P.R. BURGEL- International
- 06 Oct. 3èmes Rencontres ALK en Allergologie – Dr C. MARTIN – International
- 07 octobre 2019 : Intervention à la journée Muki Day : « Regard croisé hospitalier-libéral » « comment mieux comprendre pour une bonne prise en charge du patient » 47 inscrits/ 11 orateurs – Paris 75008
- 08 Oct. 2019 – Journées CRCM IdF – – Pr P.R. BURGEL – Dr R. KANAAN – Dr C. MARTIN – National
- 10 Oct. 2019 ECFS-Patient Registry – Scientific Committee meeting – Pr P.R. BURGEL- International
- 14 Oct. Advisory Board « Small Airways Disease et son impact dans l’asthme » Pr P.R. BURGEL- International
- 18 Oct. 8ème journée de transfert de Technologies de l’Institut Cochin – Identification of targets for defective phagocytosis in chronic respiratory diseases – Pr P.R. BURGEL- National
- 29-30-31 octobre/1er novembre 2019 : Rencontre avec la Société Serbe de la Mucoviscidose à Novi Sad (Serbie) + participation au 1er Congrès serbe sur la mucoviscidose (présentation orale 20 minutes + atelier infirmier 60 minutes)
- 31 Oct – 02 Nov. NACFC 2019 – P.R. BURGEL- International
- 05 Nov. Tournage « Guide vaccination » Pr P.R. BURGEL- National
- 09 Nov. – Regards croisés sur la prise en charge de l’asthme sévère de l’enfant et l’adulte – Dr C. MARTIN – National
- 16 Nov. 2019 Confluences « Prise en charge de la BPCO : où en sommes-nous en 2019 ? Pr P.R. BURGEL- National
- 18 Nov. AstraZeneca Benralizumab in ABPA virtual advisory board – Pr P.R. BURGEL- National
- 23 Nov. 9ème Symposium respiratoire – Topo DDB Adultes : La dilatation des bronches de l’adulte, bilan étiologique et prise en charge – Pr P.R. BURGEL- National
- 29 Nov. B cell symposium in Paris Institut Cochin – Pr P.R. BURGEL- National
- 06 Déc. 2019 Workshop pneumologie « Les voies Aériennes Distales, cibles …. »- Pr P.R. BURGEL- Dr C. MARTIN – National
- 10 Déc. 19 European Advisory Board meeting “Role of TOBI Podhaler in CF management”. Journées de Biologie Clinique Necker
- Pr P.R. BURGEL- International
- 14 Déc. 2019 Journées Trajectoires BPCO – 1ère session : l’hétérogénéité des patients BPCO et son impact sur le suivi – P.R. BURGEL- National
- 14 Déc. « La mucoviscidose à l’épreuve du féminin » – Dr C. MARTIN
In 2020 and due to the global COVID pandemic, identical participation in face-to-face at the beginning of the year and then in remote from March 2020.
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
A mushroom could contain an effective molecule against cystic fibrosis
Le Figaro Santé | 03/13/2023
French researchers have discovered a molecule capable of correcting certain mutations involved in cystic fibrosis, even in forms of the disease resistant to existing treatments.
> Read more
2021
A promising new treatment for cystic fibrosis
Allo Docteurs| 01/18/2021
An American laboratory has just developed a new molecule with promising results against cystic fibrosis. The drug is not yet marketed in France, but some patients, in critical condition, have been able to test it on a compassionate basis.
> Read more
2020
Cystic fibrosis: evolving landscape of exacerbations
Fréquence médicale | 10/22/2020
Respiratory exacerbations in adults with cystic fibrosis are a growing and evolving problem with the advent of new treatments. A revision of the definition. Based on an interview with Pierre-Régis Burgel.
> Read more
Life expectancy, research … the fight against cystic fibrosis is advancing
Le Parisien | 09/14/2020
The TV movie about Grégory Lemarchal, the singer who died of cystic fibrosis, was a hit a week ago. Where do we stand today with the « salty kiss disease » as it was called in the Middle Ages?
> Read more
2018
Respirhacktion
Facebook | 11/23/18
Professor Pierre-Régis Burgel talks to us today about cystic fibrosis, a rare genetic disease affecting nearly 1 in 2,500 births in Europe.
> Read more
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.
> Read more
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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A new hope of treatment for cystic fibrosis sufferers
Université Paris Cité | 03.28.2023
The Pneumology department/rare diseases reference center for cystic fibrosis team at Université Paris Cité, Cochin-Port Royal AP-HP hospital and Inserm, 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 the F508del mutation.
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- 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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Contact information
At Cochin hospital, the reference center for cystic fibrosis and conditions linked to a CFTR abnormality in brief …
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