ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals

•Advantages and challenges of a dedicated patient registry for people with CFTR-RD.•The CFTR-RD risk for infants with a CRMS/CFSPID designation.•Peculiarities of genetic counseling in people and families with CFTR-RD.•Identification of barriers to disseminate, implement and monitor CFTR-RD managemen...

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Published in:Journal of cystic fibrosis 2024-05, Vol.23 (3), p.388-397
Main Authors: 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
Format: Article
Language:English
Subjects:
CF-registry
CFTR
CFTR-RD
CFTR-related disorder
Clinical trials, genetic counseling
CRMS/CFSPID
Cystic fibrosis
Genetics
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Summary:•Advantages and challenges of a dedicated patient registry for people with CFTR-RD.•The CFTR-RD risk for infants with a CRMS/CFSPID designation.•Peculiarities of genetic counseling in people and families with CFTR-RD.•Identification of barriers to disseminate, implement and monitor CFTR-RD management.•Feasibility of clinical trials in people with CFTR-RD. 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.
ISSN:1569-1993
1873-5010
1873-5010
DOI:10.1016/j.jcf.2024.01.012