Nouvelles thérapeutiques de la mucoviscidose ciblant le gène ou la protéine CFTR

Hubert, D.; Bui, Stéphanie; Marguet, Christophe; Colomb-Jung, V.; Murris-Espin, M.; Corvol, Harriet; Munck, À.

doi:10.1016/j.rmr.2015.11.010

Cited by 10 publications

(4 citation statements)

References 25 publications

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“…Then, we generated a list of their Digital Object Identifiers (DOIs) and imported it into the reference management software Citavi 6.1, where these references were downloaded in a PDF format and fully read. After this process, we considered 47 [ 6 , 8 , 9 , 10 , 20 , 22 , 23 , 24 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 ] references appropriate to the study and used them in the literature review that allowed us to draft the survey questionnaire.…”

Section: Methodsmentioning

confidence: 99%

Anticipating New Treatments for Cystic Fibrosis: A Global Survey of Researchers

Cabral

Terlizzi

Laselva

et al. 2022

JCM

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Cystic fibrosis is a life-threatening disease that affects at least 100,000 people worldwide. It is caused by a defect in the cystic fibrosis transmembrane regulator (CFTR) gene and presently, 360 CFTR-causing mutations have been identified. Since the discovery of the CFTR gene, the expectation of developing treatments that can substantially increase the quality of life or even cure cystic fibrosis patients is growing. Yet, it is still uncertain today which developing treatments will be successful against cystic fibrosis. This study addresses this gap by assessing the opinions of over 524 cystic fibrosis researchers who participated in a global web-based survey. For most respondents, CFTR modulator therapies are the most likely to succeed in treating cystic fibrosis in the next 15 years, especially through the use of CFTR modulator combinations. Most respondents also believe that fixing or replacing the CFTR gene will lead to a cure for cystic fibrosis within 15 years, with CRISPR-Cas9 being the most likely genetic tool for this purpose.

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Section: Methodsmentioning

confidence: 99%

Anticipating New Treatments for Cystic Fibrosis: A Global Survey of Researchers

Cabral

Terlizzi

Laselva

et al. 2022

JCM

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“…For respiratory disease, for example, treatments consist of improving secretion drainage, mucus hydration and/or mucociliary clearance, as well as treating recurrent infections or exacerbated inflammation [72]. In the last decade, considerable efforts have led to the development of therapies that target the CFTR proteins named CFTR modulators [73]. Interpatient variability in the response to these modulators has been shown to be partly explained by modifier genes.…”

Section: Modifier Factors Of Cftr Modulators Responsementioning

confidence: 99%

Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes

Mésinèle

Ruffin

Corvol

2022

IJMS

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Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the exocrine pancreatic status, most studies agree that there is little association between CFTR variants and disease phenotypes. Environmental factors have been shown to contribute to this heterogeneity, accounting for almost 50% of the variability of the lung function of pwCF. Nevertheless, pwCF with similar CFTR variants and sharing the same environment (such as in siblings) may have highly variable clinical manifestations not explained by CFTR variants, and only partly explained by environmental factors. It is recognized that genetic variants located outside the CFTR locus, named “modifier genes”, influence the clinical expression of the disease. This short review discusses the latest studies that have described modifier factors associated with the various CF phenotypes as well as the response to the recent CFTR modulator therapies.

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“…The concept of smooth muscle physiology being a cause of cystic ibrotic dysfunction as indicated here, has received support from the recent introduction of new drugs, ivacaftor and lumacaftor, that facilitate introduction of CFTR into membranes or repair the existing CFTR. A recent review of the effects of these drugs [64] has drawn attention to the improvement in the forced expiratory volume after one second, FEV1, in patients with CF but with caveats about the type of mutation that the patient has. In patients with the G551-D mutation, ivacaftor gave on average a 10% increase in respiratory function based on forced expiration measurements [65,66], not con irmed in patients having class 2 mutations [67].…”

Section: Recent Evidence For Smooth Muscle Involvement In Cf From CLImentioning

confidence: 99%

Lack of applicability of the Enterocyte Chloride ion secretion paradigm to the Pathology of Cystic Fibrosis

Lucas¹

2017

Arch Asthma Allergy Immunol

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Nouvelles thérapeutiques de la mucoviscidose ciblant le gène ou la protéine CFTR

Cited by 10 publications

References 25 publications

Anticipating New Treatments for Cystic Fibrosis: A Global Survey of Researchers

Anticipating New Treatments for Cystic Fibrosis: A Global Survey of Researchers

Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes

Lack of applicability of the Enterocyte Chloride ion secretion paradigm to the Pathology of Cystic Fibrosis

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