Treatment burden in patients with at least one class IV or V <i>CFTR</i>
 mutation

Dewulf, Jonas; Vermeulen, François; Wanyama, S.; Thomas, M.; Proesmans, Marijke; Dupont, Lieven; Boeck, K. De

doi:10.1002/ppul.23313

Cited by 11 publications

(11 citation statements)

References 30 publications

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“…On average, patients with at least one mutation of class IV or V have later onset of disease, lower sweat chloride values, slower decline in lung function, less chronic Pseudomonas aeruginosa infections, less CF‐related diabetes and lower treatment burden . Together, these mutations are called residual function mutations, in contrast to mutations that confer no, or hardly any, CFTR function, which are jointly called minimal function mutations.…”

Section: From Treating Symptoms To Treating the Underlying Defectmentioning

confidence: 99%

Cystic fibrosis in the year 2020: A disease with a new face

2020

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Section: From Treating Symptoms To Treating the Underlying Defectmentioning

confidence: 99%

Cystic fibrosis in the year 2020: A disease with a new face

2020

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“…This is a result of neonatal screening and newer treatment modalities such as improved control of pulmonary infections and mucociliary clearance. However, recent years have also seen an increase in disease complexity [3] with newer, more resistant genetic variants [4] often emerging. Some of these have been covered very well in several excellent reviews [3, 5–7].…”

Section: Introductionmentioning

confidence: 99%

Cystic fibrosis lung environment and Pseudomonas aeruginosa infection

et al. 2016

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BackgroundThe airways of patients with cystic fibrosis (CF) are highly complex, subject to various environmental conditions as well as a distinct microbiota. Pseudomonas aeruginosa is recognized as one of the most important pulmonary pathogens and the predominant cause of morbidity and mortality in CF. A multifarious interplay between the host, pathogens, microbiota, and the environment shapes the course of the disease. There have been several excellent reviews detailing CF pathology, Pseudomonas and the role of environment in CF but only a few reviews connect these entities with regards to influence on the overall course of the disease. A holistic understanding of contributing factors is pertinent to inform new research and therapeutics.DiscussionIn this article, we discuss the deterministic alterations in lung physiology as a result of CF. We also revisit the impact of those changes on the microbiota, with special emphasis on P. aeruginosa and the influence of other non-genetic factors on CF. Substantial past and current research on various genetic and non-genetic aspects of cystic fibrosis has been reviewed to assess the effect of different factors on CF pulmonary infection. A thorough review of contributing factors in CF and the alterations in lung physiology indicate that CF lung infection is multi-factorial with no isolated cause that should be solely targeted to control disease progression. A combinatorial approach may be required to ensure better disease outcomes.ConclusionCF lung infection is a complex disease and requires a broad multidisciplinary approach to improve CF disease outcomes. A holistic understanding of the underlying mechanisms and non-genetic contributing factors in CF is central to development of new and targeted therapeutic strategies.

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“…11 Patients with at least one mutation of class IV or V have on average milder disease, later onset, lower sweat chloride, slower decline in lung function, less chronic Pseudomonas aeruginosa infections, less CF-related diabetes, and lower treatment burden. 12 The mutation classification is an oversimplification because most mutations cannot be strictly confined to one class. For example, the class II mutation F508del has also characteristics of class III and class VI.…”

Section: Cftr Mutations and Cftr Mutation Classificationmentioning

confidence: 99%

Treating the Underlying Cystic Fibrosis Transmembrane Conductance Regulator Defect in Patients with Cystic Fibrosis

Cuyx

Boeck

2019

Semin Respir Crit Care Med

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Detailed knowledge of how mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene disturb the trafficking or function of the CFTR protein and the use of high-throughput drug screens have allowed novel therapeutic strategies for cystic fibrosis (CF). The main goal of treatment is slowly but surely shifting from symptomatic management to targeting the underlying CFTR defect to halt disease progression and even to prevent occurrence of CF complications. CFTR potentiators for patients with class III mutations, mutation R117H (and in United States also for patients with specific residual function mutations) and the combination of a CFTR modulator plus a potentiator for patients homozygous for F508del, are the two classes of modulators that are in use in the clinic. Approval of these therapeutics has progressively expanded to include both younger patients and a wider range of CFTR mutations. For a significant proportion of patients with CF, current treatment is however still insufficient or unavailable.This review provides an overview of the clinical trial results and the real-life efficacy data of approved CFTR modulators. In addition, we discuss the entire pipeline of CFTR modulators: novel potentiators and correctors, amplifiers, stabilizers, and read-through agents. Furthermore, we discuss other strategies to improve CFTR function like nonsense-mediated decay inhibitors, modified transfer ribonucleic acids, antisense oligonucleotides, and genetic therapies.CFTR modulators are already changing the face of CF and the pipeline of new therapies continues to be exciting.

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Treatment burden in patients with at least one class IV or V CFTR mutation

Cited by 11 publications

References 30 publications

Cystic fibrosis in the year 2020: A disease with a new face

Cystic fibrosis in the year 2020: A disease with a new face

Cystic fibrosis lung environment and Pseudomonas aeruginosa infection

Treating the Underlying Cystic Fibrosis Transmembrane Conductance Regulator Defect in Patients with Cystic Fibrosis

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