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ECFS Diagnostic Network Working Group
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Coordinator:
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Introduction:
Cystic fibrosis (CF) is an autosomal recessively inherited disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and characterized clinically by chronic suppurative airways disease and exocrine pancreatic failure. The CFTR gene was cloned in 1989 and it is abundantly clear that there is great heterogeneity in the clinical manifestations of cystic fibrosis. The disease commonly presents in early childhood as failure to thrive with the children developing irreversible airways disease in the first decade. However, there is a wide spectrum of disease presentation and increasingly adults are being diagnosed who obviously had minimal or no signs of diseased in childhood but still carry 2 disease-causing mutations of CFTR. The prognosis for these patients may be excellent. It is vital to be able to distinguish these categories of patients and have a Europe-wide consensus about terminology of these different disease patterns. Together with this, a number of European countries have begun neonatal screening for CF and there are relatively large numbers of infants whose diagnosis is uncertain due to false positive screening tests.
Aims:
The European CF Society Diagnostic Network Working Group (ECFS DNWG) was set up to evaluate new diagnostic techniques and to standardize procedures throughout Europe. The goal of this Network is to achieve pan-European cooperation on the definitions of disease, standardization of electrophysiological and genetic techniques and the exchange of information, difficult cases and the development of new diagnostic technologies. The goals of the ECFS DNWG are also closely related to application of the diagnostic techniques for drug development and clinical trials in CF, in cooperation with the ECFS Clinical Trials Network.
Scientific Programme and Innovation:
The "standard " test for diagnosing CF is the sweat test. This test is standardized and quality control markers are internationally established. However, an increasing group of patients can not be diagnosed with the sweat test as results are in an intermediate range of CFTR dysfunction. Therefore, also newer tests have been developed to ascertain and further quantify the electrophysiological defect in CF, the lack of CFTR-mediated chloride ion transport. The nasal potential difference (NPD) test examines the chloride transport under the inferior turbinate of the nose and the intestinal current measurement (ICM) examines CFTR function ex vivo in rectal biopsies. Both these tests need to be more widely used, and new European SOPs have been developed by the ECFS DNWG for use as a diagnostic aid and for therapeutic outcome strategies in Europe. These SOPs for ICM and NPD will allow centre-independent comparison of results and reference values. Another focus of the ECFS DNWG is genetic analysis in CF. There are over 1700 mutations known in the CFTR gene so far. The ECFS DNWG evaluates molecular technology for the correct diagnosis in the different populations, and contributes to important genotype-phenotype correlation projects, including CFTR2, a project designed to provide information about specific CF mutations to CF patients, families, caregivers and the general public (http://media.newsinfusion.com/CFF13/).
Meetings & Membership:
The ECFS DNWG meets at least twice a year usually at the ECFS conference and at a separate weekend during the year. All members of the ECFS with an interest in diagnostic topics in CF are welcome to participate in the work of ECFS DNWG.
Publications by the ECFS DNWG:
The ECFS DNWG has published an algorithm on the diagnosis of CF and subsequently validated it multicentrally across Europe:
Goubau C, Wilschanski M, Skalicka V, Lebecque P, Southern K, Sermet I, Munck A, Derichs N, Middleton P, Hjelte L, Padoan R, Vasar M, De Boeck K. Phenotypic characterization of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax 2009; 64(8):683-91.
De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M; Diagnostic Working Group. Cystic fibrosis: terminology and diagnostic algorithms. Thorax 2006;61(7):627-35.
Also, several publications on specific diagnostic aspects in CF have been published by the ECFS DNWG and its members:
De Boeck K, Derichs N, Fajac I, de Jonge HR, Bronsveld I, Sermet I, Vermeulen F, Sheppard DN, Cuppens H, Hug M, Melotti P, Middleton PG, Wilschanski M. ECFS Diagnostic Network Working Group. New clinical diagnostic procedures for cystic fibrosis in Europe. J Cyst Fibros 2011; 10 Suppl 2:S53-66.
Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, Sermet I, Schwarz M, Tzetis M, Wilschanski M, Bareil C, Bilton D, Castellani C, Cuppens H, Cutting GR, Drevinek P, Farrell P, Elborn JS, Jarvi K, Kerem B, Kerem E, Knowles M, Macek M Jr, Munck A, Radojkovic D, Seia M, Sheppard DN, Southern KW, Stuhrmann M, Tullis E, Zielenski J, Pignatti PF, Ferec C. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011; 10 Suppl 2:S86-S102.
Derichs N, Sanz J, von Kaenel T, Stolpe C, Zapf A, Tümmler B, Gallati S, Ballmann M. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax 2010; 65(7):594-99.
Sermet-Gaudelus I, Girodon E, Roussel D, Deneuville E, Bui S, Huet F, Guillot M, Aboutaam R, Renouil M, Munck A, des Georges M, Iron A, Thauvin-Robinet C, Fajac I, Lenoir G, Roussey M, Edelman A. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax 2010; 65(6): 539-44.
Bronsveld I, Sinaasappel M, Southern KW, Sermet-Gaudelus I, Leal T, Melotti P, Ballmann M, Hjelte L, Middleton PG, De Boeck K, Wilschanski M. Evaluation of European protocols for measuring nasal potential differences. J Cyst Fibros 2009; 8(S2):10.
Derichs N, Bronsveld I, Sousa M, Hug MJ, Yaakov Y, Ballmann M, Amaral M, Wilschanski M, de Jonge H. Intestinal Current Measurement (ICM) in Europe: towards a harmonised protocol for clinical trials in cystic fibrosis. J Cyst Fibros 2009; 8(S2):123.
Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ, Castellani C, Southern KW; European Cystic Fibrosis Society Neonatal Screening Working Group. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros 2009;8:71-8.
Dequeker E, Stuhrmann M, Morris MA, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti PF, Scheffer H, Schwartz M, Witt M, Schwarz M, Girodon E. Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders-updated European recommendations. Eur J Hum Genet 2009;17(1):51-65.
Wilschanski M, Dupuis A, Ellis L, Jarvi K, Zielenski J, Tullis E, Martin S, Corey M, Tsui LC, Durie P. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med 2006;174:787-94.
De Jonge HR, Ballmann M, Veeze H, Bronsveld I, Stanke F, Tümmler B, Sinaasappel M. Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers. J Cyst Fibros 2004;3 Suppl 2:159-63.
Schüler D, Sermet-Gaudelus I, Wilschanski M, Ballmann M, Dechaux M, Edelman A, Hug M, Leal T, Lebacq J, Lebecque P, Lenoir G, Stanke F, Wallemacq P, Tümmler B, Knowles MR. Basic protocol for transepithelial nasal potential difference measurements. J Cyst Fibros. 2004;3 Suppl 2:151-5.
Links
Report from the ECFS Diagnostics Network Working Group (DNWG) - Anaheim 3 Nov 2011 - PDF
Authors of the Report: Michael Wilschanski & Nico Derichs
Report from the ECFS Diagnostics Network Working Group (DNWG) - Stockholm 11-12 Feb 2011 – PDF
Report from the ECFS Diagnostic Network Working Group (DNWG) - Baltimore - 22 Oct 2010 - PDF
Authors of the Report: Kris De Boeck and Inez Bronsveld.
Report from the ECFS Diagnostic Network Working Group (DNWG), Valencia - 18 June 2010 - PDF
Authors of the report: Michael Wilschanski and Inez Bronsveld
Report from the the ECFS Diagnostic Network Working Group (DNWG), Paris - 12-13 Feb 2010 - PDF
Authors of report: Michael Wilschanski and Inez Bronsveld
Report from the ECFS Diagnostics Network Working Group (DNWG) 15 October 2009 - Minneapolis, USA (PDF)
Authors of report: Michael Wilschanski and Nico Derichs
Report from the ECFS Diagnostics Network Working Group (DNWG) 10 June 2009 - Brest, France (PDF)
Joint meeting of the ECFS-DNWG-EuroCareCF WP3 diagnosis
Authors of report: Michael Wilschanski and Inez Bronsveld
Report from the Meeting 19th to 21st February 2009 (PDF)
Liverpool, UK - 5th Annual Meeting of the ECFS Diagnostic Network Working Group / EUROCARE CF WP3 diagnosis
Report from the Meeting 23 October 2008 (PDF)
22nd Annual North American CF Conference in Orlando, Florida
Report from the Meeting 11 June 2008 (PDF)
31st ECFS Conference in Prague, Czech Republic
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