{Reference Type}: Journal Article
{Title}: ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.
{Author}: De Wachter E;De Boeck K;Sermet-Gaudelus I;Simmonds NJ;Munck A;Naehrlich L;Barben J;Boyd C;Veen SJ;Carr SB;Fajac I;Farrell PM;Girodon E;Gonska T;Grody WW;Jain M;Jung A;Kerem E;Raraigh KS;van Koningsbruggen-Rietschel S;Waller MD;Southern KW;Castellani C; ;
{Journal}: J Cyst Fibros
{Volume}: 23
{Issue}: 3
{Year}: 2024 May 21
{Factor}: 5.527
{DOI}: 10.1016/j.jcf.2024.01.012
{Abstract}: After three publications defining an updated guidance on the diagnostic criteria for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (pwCFTR-RDs), establishing its relationship to CFTR-dysfunction and describing the individual disorders, this fourth and last paper in the series addresses some critical challenges facing health care providers and pwCFTR-RD. Topics included are: 1) benefits and obstacles to collect data from pwCFTR-RD are discussed, together with the opportunity to integrate them into established CF-registries; 2) the potential of infants designated CRMS/CFSPID to develop a CFTR-RD and how to communicate this information; 3) a description of the challenges in genetic counseling, with particular regard to phenotypic variability, unknown long-term evolution, CFTR testing and pregnancy termination 4) a proposal for the assessment of potential barriers to the implementation and dissemination of the produced documents to health care professionals involved in the care of pwCFTR-RD and a process to monitor the implementation of the CFTR-RD recommendations; 5) clinical trials investigating the efficacy of CFTR modulators in CFTR-RD and how endpoints and outcomes might be adapted to the heterogeneity of these disorders.