Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies

Moni, Sivakumar Sivagurunathan; Basheer, Asmaa Al

doi:10.1016/j.jsps.2022.10.002

Cited by 4 publications

(4 citation statements)

References 108 publications

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“…By doing so, they enabled a better and better quality of life for people with CF. Some of these therapies, which use monoclonal antibodies [20], and the CRISP method [21,22], are clinical, and some are in preclinical development [23].…”

Section: Resultsmentioning

confidence: 99%

The Most Common Mutations in the CFTR Gene in the Population of Bosnia and Herzegovina

Mačkić-Ðurović,

Kiseljaković,

Aganović-Mušinović

et al. 2023

AJBGMB

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Aims: Cystic fibrosis is an autosomal recessive multisystem disease caused by a mutation of the CFTR gene. To date, more than 1900 mutations of this gene are known. Studies have shown that the most common mutation is delF508. In Bosnia and Herzegovina, the prevalence of individual mutations in the general population has not been thoroughly studied, so this study aimed to determine the prevalence of the mutation concerning the countries of the region and the rest of the world. Study Design: Retrospective study. Place and Duration of Study: Thirty-nine subjects with suspected Cystic fibrosis were referred to the Center for Genetics of the Medical Faculty in Sarajevo between 2018-2020. Methodology: 29 common CFTR gene mutations were analysed with the ELUCIGENE CF29 v2 kit (Elucigene Diagnostics, UK) using four multiplex PCR. Results: The most common mutation in our study was the F508 deletion, present in 14 subjects (73.68%). R347P and G542X mutations were confirmed in two subjects in the heterozygous state in combination with delF508 (M) 5.26% of each of these mutations. 621+1G>T was found in a homozygous state in one subject, while in another, it was in a heterozygous state in combination with delF508(M) mutation, 10.52%. Mutation 2184 delA was found in one subject in the homozygous state with a total frequency of 5.26%. Conclusion: Subjects with cystic fibrosis in Bosnia and Herzegovina are most often carriers of the delF508 mutation. Considering the existence of many mutations and that it is difficult to test them all, targeting the most common mutations in a clinical environment might help in approving therapy, and increasing patients’ quality of life.

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Section: Resultsmentioning

confidence: 99%

The Most Common Mutations in the CFTR Gene in the Population of Bosnia and Herzegovina

Mačkić-Ðurović,

Kiseljaković,

Aganović-Mušinović

et al. 2023

AJBGMB

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“…In addition, an alternative to oral azole therapy that might cause drug-drug interactions with CFTR modulator therapy with nebulized amphotericin B or voriconazole might be an option. 92,93 The use of monoclonal antibodies in the second and third line of treatment of ABPA in pwCF reviewed by Moni et al 94 and Thomson et al 90 have an increasing role also in CF. In single cases, clinical response could be demonstrated for omalizumab (anti-IgE antibody), mepolizumab (anti-IL-5 antibody), dupilumab (anti-IL-4α and anti-IL-13 antibodies), and benralizumab (anti-IL-5Rα antibody).…”

Section: Allergic Bronchopulmonary Aspergillosismentioning

confidence: 99%

“…The use of monoclonal antibodies in the second and third line of treatment of ABPA in pwCF reviewed by Moni et al 94 and Thomson et al 90 have an increasing role also in CF. In single cases, clinical response could be demonstrated for omalizumab (anti-IgE antibody), mepolizumab (anti-IL-5 antibody), dupilumab (anti-IL-4α and anti-IL-13 antibodies), and benralizumab (anti-IL-5Rα antibody).…”

Section: Allergic Bronchopulmonary Aspergillosismentioning

confidence: 99%

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Pulmonary Aspergillosis in People with Cystic Fibrosis

Schwarz,

Eschenhagen,

Mainz

et al. 2024

Semin Respir Crit Care Med

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In the last decade, fungal respiratory diseases have been increasingly investigated for their impact on the clinical course of people with cystic fibrosis (CF), with a particular focus on infections caused by Aspergillus spp. The most common organisms from this genus detected from respiratory cultures are Aspergillus fumigatus and Aspergillus terreus, followed by Aspergillus flavus, Aspergillus niger, and Aspergillus nidulans. These species have been identified to be both chronic colonizers and sources of active infection and may negatively impact lung function in people with CF. This review article discusses definitions of aspergillosis, challenges in clinical practice, and current literature available for laboratory findings, clinical diagnosis, and treatment options for pulmonary diseases caused by Aspergillus spp. in people with CF.

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Emerging biomarkers for precision diagnosis and personalized treatment of cystic fibrosis

Addissouky,

Sayed,

Ali

et al. 2024

J Rare Dis

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Background Cystic fibrosis (CF) is a fatal genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, disrupting ion transport. This results in organ damage and reduced life expectancy. Main body of the abstract Recent therapeutic advances targeting CFTR dysfunction have transformed treatment. CFTR modulator drugs directly target molecular defects underlying CF. Ivacaftor was the first approved potentiator benefiting gating mutations. Correctors like lumacaftor/ivacaftor and newer triple therapy combinations more effectively address the prevalent F508del mutation by improving CFTR processing. Gene and mRNA therapies also show promise, with preclinical studies editing CFTR in stem cell-derived epithelia and mRNA supplementation stabilizing acute exacerbations. Short conclusion Targeting CFTR dysfunction through small molecules, gene editing, and cell-based therapies represents a paradigm shift from symptom management to addressing genetic causes. Expanding access to innovative treatments across all patient subgroups may modify disease progression. While awaiting genetic cures, emerging strategies provide hope that CF outcomes can transition from early lethality to a chronic condition with an improved life expectancy and quality of life.

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Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies

Cited by 4 publications

References 108 publications

The Most Common Mutations in the CFTR Gene in the Population of Bosnia and Herzegovina

The Most Common Mutations in the CFTR Gene in the Population of Bosnia and Herzegovina

Pulmonary Aspergillosis in People with Cystic Fibrosis

Emerging biomarkers for precision diagnosis and personalized treatment of cystic fibrosis

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