Review
Pharmacology & Pharmacy
Yizi Wang, Bin Ma, Wenya Li, Peiwen Li
Summary: Triple combination therapy for cystic fibrosis patients achieves better clinical results and comparable adverse events compared to the control group.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Pediatrics
Qiyu Li, Siyuan Liu, Xuemei Ma, Jiaping Yu
Summary: This meta-analysis evaluated the effectiveness and safety of small molecule therapy in children diagnosed with cystic fibrosis (CF). The results showed that CFTR modulators can improve respiratory function, lung clearance index, sweat chloride concentration, and other aspects of function in children with CF, with comparable adverse events compared to the placebo group.
FRONTIERS IN PEDIATRICS
(2022)
Review
Pharmacology & Pharmacy
Juliana Roda, Catarina Pinto-Silva, Iris A. I. Silva, Carla Maia, Susana Almeida, Ricardo Ferreira, Guiomar Oliveira
Summary: Cystic fibrosis is a chronic disease caused by mutations in the CFTR gene, affecting over 90,000 people worldwide. New drugs targeting the molecular defect of CFTR have the potential to provide personalized treatments for patients with cystic fibrosis.
THERAPEUTIC ADVANCES IN CHRONIC DISEASE
(2022)
Article
Pediatrics
Stephanie Bui, Alexandra Masson, Raphael Enaud, Lea Roditis, Gael Dournes, Francois Galode, Cyrielle Collet, Emmanuel Mas, Jeanne Languepin, Michael Fayon, Fabien Beaufils, Marie Mittaine
Summary: In F508del homozygous adolescents, real-life long-term LUM/IVA improved the trajectory of ppFEV1, particularly in younger patients, as well as nutritional status and sweat chloride concentration, but did not significantly improve exacerbation rates or radiological scores. Patients who started LUM/IVA treatment at a younger age showed greater changes in ppFEV1 during treatment.
FRONTIERS IN PEDIATRICS
(2021)
Article
Chemistry, Medicinal
Emmanuelle Bardin, Alexandra Pastor, Michaela Semeraro, Anita Golec, Kate Hayes, Benoit Chevalier, Farouk Berhal, Guillaume Prestat, Alexandre Hinzpeter, Christine Gravier-Pelletier, Iwona Pranke, Isabelle Sermet-Gaudelus
Summary: Cystic fibrosis is the most frequent life-limiting autosomal recessive disorder in the Caucasian population caused by mutations in the CFTR gene. Current therapies focus on treating the downstream consequences of CFTR mutations, but pharmacologic therapy aims to restore mutated CFTR function and has the potential to transform patient prognosis.
EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY
(2021)
Article
Biochemistry & Molecular Biology
Virginia Spano, Marilia Barreca, Vincenzo Cilibrasi, Michele Genovese, Mario Renda, Alessandra Montalbano, Luis Juan Vicente Galietta, Paola Barraja
Summary: Cystic fibrosis is a genetic disease caused by mutations affecting the CFTR chloride channel. Correctors can help overcome the defects in CFTR protein. A new compound has been identified as a potential novel class of CFTR correctors to increase F508del-CFTR activity.
Review
Health Care Sciences & Services
Bente L. Aalbers, Inez Bronsveld, Regina W. Hofland, Harry G. M. Heijerman
Summary: Highly effective CFTR modulators, such as elexacaftor/tezacaftor/ivacaftor (ELE/TEZ/IVA), will be increasingly available for individuals with cystic fibrosis in the near future. The literature presents a hopeful prospect of effects on lung function, nutritional status, sinonasal symptoms, and quality of life, with favorable outcomes for patients with severe lung damage. Treatment is generally well tolerated, and patient-derived cell models may assist in predicting individual patient responses.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Respiratory System
Frederic Becq, Sandra Mirval, Thomas Carrez, Manuella Leveque, Arnaud Billet, Christelle Coraux, Edouard Sage, Anne Cantereau
Summary: Trikafta is currently the leading therapeutic in cystic fibrosis (CF) and has shown significant clinical benefits. This study compared the effects of different medications on F508del-CFTR cells and found that the combination therapy of elexacaftor/tezacaftor/ivacaftor effectively improved the abnormal expression and function of F508del-CFTR, but the presence of ivacaftor limited its efficacy. These findings suggest that the basal F508del-CFTR current may serve as a marker for correction efficacy in CF cells.
EUROPEAN RESPIRATORY JOURNAL
(2022)
Article
Physiology
Kathryn W. Peters, Xiaoyan Gong, Raymond A. Frizzell
Summary: The study evaluated correction strategies using misfolding mutants, including the common variant F508del CFTR. The data fell into three mutant CFTR categories: intransigent, throughput responsive, and folding responsive, suggesting that immature forms of CFTR occupy different loci within the folding landscape. Additional evaluation of their properties could aid in the development of correctors targeting difficult-to-fold mutant conformations within the CFTR folding pathway.
FRONTIERS IN PHYSIOLOGY
(2021)
Article
Chemistry, Multidisciplinary
Bhanu Sharma, Nibin Joy Muthipeedika, Dhananjay Bhattacherjee, Grigory V. Zyryanov, Rituraj Purohit
Summary: A multistep synthesis method was demonstrated for synthesizing 2-methyl-3-carboxamide-4-quinolones with potential activities on CF. Computational analysis confirmed the potential of molecule 4d as a promising CFTR channel potentiator.
MATERIALS TODAY CHEMISTRY
(2023)
Article
Pediatrics
Ralph Fingerhut, Corina Rueegg, Orell Imahorn, Eva Sophie Lunde Pedersen, Claudia Kuehni, Sabina Gallati, Nicolas Regamey, Jurg Barben
Summary: This study describes the newborn screening (NBS) results for cystic fibrosis (CF) in Switzerland since 2011 and highlights the importance of gestational age and day of sampling in interpreting the results. Furthermore, it emphasizes the significance of a second immuno-reactive trypsinogen (IRT) measurement for inconclusive diagnoses.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
(2023)
Article
Multidisciplinary Sciences
Young Jin Kim, Tomoki Nomakuchi, Foteini Papaleonidopoulou, Lucia Yang, Qian Zhang, Adrian R. Krainer
Summary: An antisense oligonucleotide cocktail has been developed to restore CFTR protein function by gene-specific stabilization of CFTR mRNA and increase the expression of CFTR-W1282X mRNA, providing a potential therapy for cystic fibrosis caused by the W1282X mutation. The treatment has been shown to enhance CFTR-mediated chloride current in human bronchial epithelial cells.
NATURE COMMUNICATIONS
(2022)
Article
Physiology
Guiying Cui, Kirsten A. Cottrill, Kerry M. Strickland, Sarah A. Mashburn, Michael Koval, Nael A. McCarty
Summary: Research shows that altering plasma membrane cholesterol levels significantly affects CFTR channel function, potentially impacting the sensitivity of cystic fibrosis patients to clinical therapies.
FRONTIERS IN PHYSIOLOGY
(2021)
Review
Medicine, Research & Experimental
Shijing Jia, Jennifer L. Taylor-Cousar
Summary: Cystic fibrosis (CF) is a genetic disease that affects multiple organ systems and can lead to various complications. Traditional treatments focused on managing the symptoms of each affected system. However, the development of modulator therapies targeted at specific genetic mutations has significantly improved the lives and prognosis of CF patients.
ANNUAL REVIEW OF MEDICINE
(2023)
Article
Critical Care Medicine
Pierre-Regis Burgel, Esperie Burnet, Lucile Regard, Clemence Martin
Summary: Cystic fibrosis (CF) is a genetic disease that affects the digestive and respiratory systems. Advances in disease management have significantly improved the prognosis, but there are still disparities in prognosis based on access to specialized care. The article describes the evolution of CF demographics, predicts future trends, and discusses the importance of specialized adult CF care.