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 Vol. 23; no. 3; pp. 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:	Journal Article
Language:	English
Published:	Netherlands Elsevier B.V 01-05-2024
Subjects:	CF-registry CFTR CFTR-RD CFTR-related disorder Clinical trials, genetic counseling CRMS/CFSPID Cystic fibrosis Cystic Fibrosis - genetics Cystic Fibrosis - therapy Cystic Fibrosis Transmembrane Conductance Regulator - genetics Genetic Counseling Genetic Testing - methods Genetics Humans Infant, Newborn Standard of Care pwCFTR-RD CFTR-RD SMA CRMS/CFSPID VVCC Cystic fibrosis IRT ICD CFTR-related disorder Clinical trials, genetic counseling NSWG PA SCC CAVD LCI CF-registry VUS Genetics AWP DNWG CFTR GDPR NBS pwCF
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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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 ObjectType-Review-3 content type line 23
ISSN:	1569-1993 1873-5010 1873-5010
DOI:	10.1016/j.jcf.2024.01.012