An Introduction to Cystic Fibrosis
Landmark research characterizing genetic drivers and protein malformations underlying cystic fibrosis (CF) is successfully translating into new and effective targeted therapies. Recently approved agents that ‘pharmacologically repair’ defects in the cystic fibrosis transmembrane conductance regulator (CFTR) arising from the F508del-mutation have revolutionized the treatment paradigm in CF. Ongoing studies are exploring restorative interventions including gene-editing, messenger ribonucleic acid (mRNA), DNA and gene therapies. More effective strategies to manage infections and pulmonary exacerbations in CF remain an active area of clinical research.
Browse our selection of video highlights and short articles from the conference hub, providing insights into the latest updates from major conferences and a selection of peer-reviewed articles from the journal portfolio.
Cystic Fibrosis Content
Jordana E Hoppe: Lumacaftor–ivacaftor in Young Children with Cystic Fibrosis
TouchRESPIRATORY got the opportunity to catch up with Dr Jordana E Hoppe (Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, US) to discuss the phase 3 extension study of lumacaftor–ivacaftor therapy in young children with cystic fibrosis homozygous for the F508del-CFTR mutation. Questions What are the unmet needs in the treatment of […]
Jennifer Taylor-Cousar, April 2020 – COVID-19 and Cystic Fibrosis
Dr Jennifer Taylor-Cousar (National Jewish Health, Denver, CO, USA) explores what we have learnt so far about how COVID-19 is effecting patients with cystic fibrosis. Questions 1. What is the risk to cystic fibrosis patients from COVID-19 and what have we learned from reported cases so far? (0:07) 2. It seems that, to date, cystic […]
Elexacaftor-tezacaftor-ivacaftor—A Combination Therapy for Phe508del Cystic Fibrosis
US Respiratory & Pulmonary Diseases. 2019;4(1):15–9
Cystic fibrosis (CF), an inherited disease affecting all races and ethnicities, results from defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which leads to dysregulations in the ion and fluid balance across epithelial membranes throughout the body.1–3 The CFTR protein is an anion channel that functions as a transmembrane traffic ATPase which is […]
Cystic Fibrosis Gene Therapy – Not Low-hanging Fruit
European Respiratory & Pulmonary Diseases, 2016;2(2):48–9 DOI: //doi.org/10.17925/ERPD.2016.02.02.48
Cystic fibrosis (CF) is caused by mutations in a single gene; treatment burden is high and life expectancy is significantly shortened (median age of survival in the UK is ~40 years). Although CF is a multi-organ disease, chronic lung infection and inflammation are the biggest causes of morbidity and mortality in the developed world. Identification […]
Case Report—Aspergillus Empyema Necessitans Post Double-lung Transplant
US Respiratory & Pulmonary Diseases, 2016;1(1):19–21 DOI: //doi.org/10.17925/USRPD.2016.01.01.19
Case Presentation The patient described was diagnosed with cystic fibrosis (CF) at 2 years of age. She was pancreatic insufficient and had an F508del homozygous genotype. Her pretransplant CF-course was complicated by CF-related diabetes, chronic sino-pulmonary colonization with Pseudomonas aeruginosa (but not Aspergillus), CF-liver disease with stable cirrhosis and portal hypertension and normal synthetic function, […]
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