Electrophysiology

The Centre’s Electrophysiology Service tests nasal potential difference (NPD) and intestinal current measurements (ICM). These data enable diagnosis in cases of suspected cystic fibrosis or CFTR-related pathology, while also making it possible to assess the effectiveness of drug treatments in addressing the underlying defect. The Electrophysiology Service is part of the European Cystic Fibrosis Society’s Diagnostic Network Working Group (ECFS DNWG). ECFS certification has been obtained as an accredited NPD and ICM facility for advanced diagnostic purposes: these services are available for patients referred by outside services.

Ongoing projects

Evaluation of CFTR protein in rectal biopsies, in projects conducted in collaboration with the ECFS DNWG.
Preparation and evaluation of organoids from intestinal epithelium, in collaboration with Prof. Claudio Sorio (University of Verona) and Prof. Jeffrey Beekman (Utrecht Medical Centre, NL): applications for diagnosis and development of new drugs.
Implementation and validation of image-based sweat testing, based on normalisation of CFTR-dependent versus CFTR-independent sweat flow in individual sweat glands, in collaboration with Prof. Teresinha Leal (Université Catholique, Brussels), Dr Isabelle Sermet (Hôpital Necker, Paris), Prof. Jeffrey Wine (Stanford University, CA, USA), Prof. Paola Minghetti (University of Milan) and Prof. Petr Quban (University of Brno, CZ): applications for diagnosis and development of new drugs.
Identification of parameters useful for diagnostic interpretation of NPD, ICM and sweat test results: participation in the validation of these methods within the ECFS DNWG and ECFS Clinical Trial Network.
Evaluation of CFTR in nasal epithelium (nasal brushing), in collaboration with Dr Marco Lucarelli (University of Rome), Prof. Giuseppe Castaldo (University of Naples) and Dr Isabelle Sermet (Hôpital Necker, Paris).
Characterisation of CFTR gene mutations in individual patients, based on response to CFTR modulators (theratyping), in collaboration with Prof. Claudio Sorio (University of Verona), the Cystic Fibrosis Foundation (CFF) Theratyping Group (Eric Schorcher) and CFTR2 (Gary Cutting, Johns Hopkins University, Baltimore, US).
In vivo, ex vivo and in vitro monitoring of CFTR function and inflammatory response, in patients treated with CFTR-modulating drugs, in collaboration with Prof. Claudio Sorio and Prof. Carlo Laudanna (University of Verona).