Complete CFTR gene mutation analysis in European patients with Cystic Fibrosis

(Project Leader: Harry Cuppens (geneticist) and Kris De Boeck (clinician))

AIM:

To provide a service for highly parallel sequencing of the complete CFTR gene (including intronic and promoter regions) in patients with confirmed CF (maximum 5 patients per individual site) in whom a disease-causing mutation was not found on both CFTR genes

More information 


CFTR3: Personalised characterization of rare Cystic Fibrosis genotypes

(Project Leader: N. Derichs)

The CFTR3 consortium is equipped with the leading European experts in the field of CF diagnosis and clinical care. This prospective project aims to newly establish a European database on the functional and clinical consequences of rare CFTR mutations/variants that are not possible to be characterised within CFTR2. In synergistic addition to CFTR2, the CFTR3 project will use personalised characterisation of in vivo and ex vivo CFTR function in native human epithelia by 3-organ targeted CFTR biomarkers.

The rationale of CFTR3 is that a complete description of the basic disease defect and characterisation of rare CFTR gene variants/mutations can lead to a highly personalised medicine using diagnostic classification and clinical care as a typical example of patients stratification. Results of functional CFTR analysis in patients respiratory and intestinal epithelia will create a basis for new therapeutic approaches on an individualised level, e.g. CFTR modulators focusing on rare single CFTR mutations with otherwise unknown ability to increase residual CFTR activity.

If you are interested to contribute to CFTR3 by submission of individual cases of subjects with rare CFTR genotypes please contact: nico.derichs@charite.de.


ECFS DNWG CF Diagnosis Registry project

(Project Leader: K. De Boeck)

The ECFS DNWG started a project to evaluate current documentation of CF diagnosis in the CF registries and to connect the work of the ECFS DNWG and the ECFS Patient Registry. It was hypothesized that diagnosis data are incomplete e.g. due to changing techniques and terminology, lack of harmonized criteria for relevance of CFTR mutations and insufficient quality control systems.

The ECFS DNWG CF Diagnosis Registry project is closely collaborating with the ECFS Patient Registry and National CF registries, and includes the following workpackages:

  • Workpackage 1: Determine the scope of the problem: who is reported in national CF registries? (K. De Boeck)
  • Workpackage 2: Measures to improve documentation of CF diagnosis in CF registries (N. Derichs)
  • Workpackage 3: Are national registries with and without neonatal screening comparable? Is the cohort of patients younger than 8 years different in national registries with and without newborn screening? (A. Munck, K. De Boeck)
  • Workpackage 4: How to define CF diagnosis by CFTR biomarker NPD and ICM (M. Wilschanski, N. Derichs)

ECFS DNWG CF Diagnostic Expert Webforum

(Project Leader: V.Mühlbacher, N.Derichs)

This new project is providing a diagnostic expert service to ECFS members from all countries. Difficult cases can be submitted online in a structured phenotype description form and will be discussed among a group of experts from all fields of CF diagnosis. The submitting physicians will receive feedback, and patients with questionable CF might profit from this diagnostic consultation service on an individual basis. More details will be announced soon.