Lumacaftor/ivacaftor reduces exacerbations in adults homozygous for Phe508del mutation with severe lung disease

Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the gene that encodes for the Cystic Fibrosis Transmembrane Regulator (CFTR) protein, an epithelial ion channel that is crucial in regulating the flow of negatively charged ions across membranes and ensuring adequate hydration of mucus [1]. As a consequence, dysfunction results in a multisystem disorder that seriously impacts upon on the lungs, eventually leading to death or the need for lung transplantation. Lumacaftor/ivacaftor (LUM/IVA) is a combination agent that targets CFTR.
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Original Article Source Type: research

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Abstract Drug compounds that augment the production and activity of the cystic fibrosis (CF) transmembrane regulator (CFTR) have revolutionised CF care. Many adults and some children with CF suffer advanced and severe lung disease or await lung transplantation. While the hope is that these drug compounds will prevent lung damage when started early in life, there is an ongoing need to care for people with advanced lung disease. The focus of this review is the accumulating data from clinical trials and case series regarding the benefits of CFTR modulator therapy in people with advanced pulmonary disease. We address ...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Eur Respir Rev Source Type: research
Drug compounds that augment the production and activity of the cystic fibrosis (CF) transmembrane regulator (CFTR) have revolutionised CF care. Many adults and some children with CF suffer advanced and severe lung disease or await lung transplantation. While the hope is that these drug compounds will prevent lung damage when started early in life, there is an ongoing need to care for people with advanced lung disease. The focus of this review is the accumulating data from clinical trials and case series regarding the benefits of CFTR modulator therapy in people with advanced pulmonary disease. We address the impact of trea...
Source: European Respiratory Review - Category: Respiratory Medicine Authors: Tags: CF and non-CF bronchiectasis Reviews Source Type: research
Klin Padiatr DOI: 10.1055/a-1117-3771 Background Oral glucose tolerance (OGT) deteriorates progressively in cystic fibrosis (CF). Clinical registries provide a unique basis to study real-world data. Patients &methods OGT tests (OGTTs) documented in the German CF-registry in 2016 were classified according WHO, modified by ADA: normal glucose tolerance (NGT), indeterminate glycaemia (INDET), impaired fasting glucose (IFG), impaired glucose tolerance (IGT), IFG+IGT, diabetes mellitus (DM). To study the association with lung function, multivariable regression adjusted for age, sex, and CFTR mutation was performed. Results ...
Source: Klinische Padiatrie - Category: Pediatrics Authors: Tags: Original Article Source Type: research
Many individuals with cystic fibrosis (CF) die from respiratory failure without referral for lung transplant. Physician practices that may expedite, delay, or preclude referral, are poorly understood.
Source: BMC Pulmonary Medicine - Category: Respiratory Medicine Authors: Tags: Research article Source Type: research
This article reviews the specific imaging features of CF using conventional imaging modalities (chest radiographs and high-resolution computed tomography [HRCT]) as well as emerging imaging technologies (digital chest tomosynthesis and MR imaging). In addition, the authors review the CF-specific HRCT imaging findings that are essential in the evaluation of these patients in the pre –lung transplant and post–lung transplant settings.
Source: Radiologic Clinics of North America - Category: Radiology Authors: Source Type: research
We describe the variability of these infiltrates on CD3/CD20 duplex staining in renal biopsies of long-term functioning allografts, in breast cancer cases, and in lung tissue of cystic fibrosis patients. The assessment in cludes automated cell detection, identification of regions of interest, and classification of lymphocytic clusters according to their degree of organization. We propose a neighborhood feature which considers the occurrence of edges with a certain type in the graph to distinguish between phenotypical ly different immune infiltrates. Our work addresses a medical need and provides a scalable framework that c...
Source: PLoS Computational Biology - Category: Biology Authors: Source Type: research
This study reports on the largest single-center experience of lung transplantation for adult and pediatric CF patients. It also highlights the evolution of practice and outcomes over time.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: Original Clinical Science Source Type: research
Chronic lung infection with the opportunistic pathogen Pseudomonas aeruginosa (PA) is common in patients with cystic fibrosis (CF) due to reduced mucociliary clearance and is the major contributor to mortality in CF [1]. Colonisation occurs in the paranasal sinuses where the inflammation is predominantly mediated by non-phlogistic immunoglobulin A (IgA) and from where PA is aspirated to the lungs. PA in CF patients is located in the airways and not systemically due to the aerobic conditions in combination with the reduced clearance of mucus in CF making the lungs and sinuses the ideal growth places for PA [2].
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Original Article Source Type: research
This study sought to evaluate the EFA profile in both the plasma and erythrocyte membrane according to lung status by comparing CF patients with or without a lung transplant.A total of 50 homozygous F508del patients (33 CF patients [CF group] and 17 CF patients with a lung transplant [TX CF group]) were included. In comparison with the CF group, in the plasma, the levels of total n-3, α-linolenic, eicosapentaenoic, and docosahexaenoic acids were higher and the n-6/n-3 ratio was lower in the TX CF group. Yet, these differences were not observed in the erythrocyte membrane. This study supports that lung transplantation...
Source: Prostaglandins, Leukotrienes and Essential Fatty Acids (PLEFA) - Category: Lipidology Source Type: research
UNDERWEIGHT PATIENTS WITH CYSTIC FIBROSIS HAVE ACCEPTABLE SURVIVAL AFTER LUNG TRANSPLANTATION: A UNOS REGISTRY STUDY. Chest. 2020 Jan 17;: Authors: Ramos KJ, Kapnadak SG, Bradford MC, Somayaji R, Morrell ED, Pilewski JM, Lease ED, Mulligan MS, Aitken ML, Gries CJ, Goss CH Abstract BACKGROUND: Reduced body mass index (BMI) is an absolute contraindication for lung transplantation (LTx) at most centers in the United States (US). Our objective was to quantify post-LTx survival of moderate-to-severely underweight cystic fibrosis (CF) patients (BMI
Source: Chest - Category: Respiratory Medicine Authors: Tags: Chest Source Type: research
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