Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review

IntroductionCystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, leading to impaired chloride transport, thickened mucus, and multiorgan dysfunction. Among its complications, cystic fibrosis-related diabetes (CFRD) is a major concern, characterized by progres...

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Main Authors: Paola Giordano, Giuseppina Leonetti, Vanja Granberg, Rosa Maria Pia Casolino, Giuseppe Lassandro, Maurizio Delvecchio, Giovanna Linguiti
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-08-01
Series:Frontiers in Endocrinology
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Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2025.1623654/full
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author Paola Giordano
Giuseppina Leonetti
Vanja Granberg
Rosa Maria Pia Casolino
Giuseppe Lassandro
Maurizio Delvecchio
Giovanna Linguiti
author_facet Paola Giordano
Giuseppina Leonetti
Vanja Granberg
Rosa Maria Pia Casolino
Giuseppe Lassandro
Maurizio Delvecchio
Giovanna Linguiti
author_sort Paola Giordano
collection DOAJ
description IntroductionCystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, leading to impaired chloride transport, thickened mucus, and multiorgan dysfunction. Among its complications, cystic fibrosis-related diabetes (CFRD) is a major concern, characterized by progressive b-cell dysfunction and insulin deficiency. The advent of CFTR modulators, including ivacaftor, lumacaftor/ivacaftor, and elexacaftor/tezacaftor/ivacaftor (ETI), has revolutionized CF management by improving pulmonary function, nutritional status, and overall survival. However, their effects on glucose metabolism remain under investigation.MethodsThis systematic review (systematic review registration: PROSPERO 2025 CRD420251021499) analyzes recent evidence on the impact of CFTR modulators on CFRD in children and young adults. Results: Ivacaftor demonstrates potential benefits in glucose regulation, enhancing insulin secretion and glucagon control, particularly in patients with gating mutations. Conversely, lumacaftor/ivacaftor exhibits inconsistent effects, with some studies indicating glucose tolerance improvements while others report insulin sensitivity decline.DiscussionETI therapy shows modest but generally positive effects on glycemic control, with reductions in HbA1c and fasting glucose, though without significant changes in insulin secretion. While CFTR modulators improve systemic health, their role in directly preventing or reversing CFRD remains unclear. Further longitudinal studies are needed to optimize therapeutic strategies and elucidate the long-term metabolic effects of CFTR modulation in CF patients.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/, identifier CRD420251021499.
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spelling doaj-art-ee3874d3ce894b53a0e8394858ce686b2025-08-20T03:39:29ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922025-08-011610.3389/fendo.2025.16236541623654Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic reviewPaola Giordano0Giuseppina Leonetti1Vanja Granberg2Rosa Maria Pia Casolino3Giuseppe Lassandro4Maurizio Delvecchio5Giovanna Linguiti6Department of Interdisciplinary Medicine, Pediatric Unit “B. Trambusti”, Cystic Fibrosis Regional Reference Center, University of Bari “Aldo Moro”, Bari, ItalyDepartment of Interdisciplinary Medicine, Pediatric Unit “B. Trambusti”, Cystic Fibrosis Regional Reference Center, University of Bari “Aldo Moro”, Bari, ItalyDepartment of Interdisciplinary Medicine, Pediatric Unit “B. Trambusti”, Cystic Fibrosis Regional Reference Center, University of Bari “Aldo Moro”, Bari, ItalyDepartment of Interdisciplinary Medicine, Pediatric Unit “B. Trambusti”, Cystic Fibrosis Regional Reference Center, University of Bari “Aldo Moro”, Bari, ItalyDepartment of Interdisciplinary Medicine, Pediatric Unit “B. Trambusti”, Cystic Fibrosis Regional Reference Center, University of Bari “Aldo Moro”, Bari, ItalyDepartment of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, ItalyDepartment of Interdisciplinary Medicine, Pediatric Unit “B. Trambusti”, Cystic Fibrosis Regional Reference Center, University of Bari “Aldo Moro”, Bari, ItalyIntroductionCystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the CFTR gene, leading to impaired chloride transport, thickened mucus, and multiorgan dysfunction. Among its complications, cystic fibrosis-related diabetes (CFRD) is a major concern, characterized by progressive b-cell dysfunction and insulin deficiency. The advent of CFTR modulators, including ivacaftor, lumacaftor/ivacaftor, and elexacaftor/tezacaftor/ivacaftor (ETI), has revolutionized CF management by improving pulmonary function, nutritional status, and overall survival. However, their effects on glucose metabolism remain under investigation.MethodsThis systematic review (systematic review registration: PROSPERO 2025 CRD420251021499) analyzes recent evidence on the impact of CFTR modulators on CFRD in children and young adults. Results: Ivacaftor demonstrates potential benefits in glucose regulation, enhancing insulin secretion and glucagon control, particularly in patients with gating mutations. Conversely, lumacaftor/ivacaftor exhibits inconsistent effects, with some studies indicating glucose tolerance improvements while others report insulin sensitivity decline.DiscussionETI therapy shows modest but generally positive effects on glycemic control, with reductions in HbA1c and fasting glucose, though without significant changes in insulin secretion. While CFTR modulators improve systemic health, their role in directly preventing or reversing CFRD remains unclear. Further longitudinal studies are needed to optimize therapeutic strategies and elucidate the long-term metabolic effects of CFTR modulation in CF patients.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/, identifier CRD420251021499.https://www.frontiersin.org/articles/10.3389/fendo.2025.1623654/fullcystic fibrosisCFTR modulatorsCFRDglucose metabolismlumacaftor/ivacaftorelexacaftor-ivacaftor-tezacaftor
spellingShingle Paola Giordano
Giuseppina Leonetti
Vanja Granberg
Rosa Maria Pia Casolino
Giuseppe Lassandro
Maurizio Delvecchio
Giovanna Linguiti
Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review
Frontiers in Endocrinology
cystic fibrosis
CFTR modulators
CFRD
glucose metabolism
lumacaftor/ivacaftor
elexacaftor-ivacaftor-tezacaftor
title Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review
title_full Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review
title_fullStr Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review
title_full_unstemmed Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review
title_short Effect of CFTR modulators on glucose homeostasis in children and young adults with cystic fibrosis-related diabetes: a systematic review
title_sort effect of cftr modulators on glucose homeostasis in children and young adults with cystic fibrosis related diabetes a systematic review
topic cystic fibrosis
CFTR modulators
CFRD
glucose metabolism
lumacaftor/ivacaftor
elexacaftor-ivacaftor-tezacaftor
url https://www.frontiersin.org/articles/10.3389/fendo.2025.1623654/full
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