A retrospective cohort study of children diagnosed with CF after implementation of a newborn screening program in Turkey

Respiratory Medicine, Journal Year: 2025, Volume and Issue: unknown, P. 108047 - 108047

Published: March 1, 2025

Language: Английский

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Cystic fibrosis at a glance: from disease mechanism to therapy

Trends in Molecular Medicine, Journal Year: 2025, Volume and Issue: unknown

Published: March 1, 2025

Language: Английский

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Tracheal Diverticula in People with Cystic Fibrosis on Elexacaftor/Tezacaftor/Ivacaftor: An Italian Multicenter Retrospective Study

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(7), P. 2320 - 2320

Published: March 28, 2025

Background/Objectives: Cystic Fibrosis (CF) is an autosomal recessive genetic disorder caused by variants in the gene encoding cystic fibrosis transmembrane conductance regulator (CFTR) protein. Recently, a targeted therapy for CF has been developed, represented CFTR modulators that enhance or restore function of The most recent combination three modulators, Elexacaftor, Tezacaftor, and Ivacaftor (ETI). This study describes presentation, management, follow-up tracheal diverticulum (TD) pwCF receiving ETI therapy. Methods: retrospective included people with (pwCF) on treatment followed up two Italian centers who developed asymptomatic TD, diagnosed incidentally at chest CT scan. Results: Among 268 ETI, (1.19%) were TD identified after this study. Endoscopic confirmation was obtained one patient. All patients inhaled colistimethate, them chronic Pseudomonas aeruginosa colonization, undergoing eradication Conclusions: may be ETI. Further studies longer follow are needed to confirm these findings.

Language: Английский

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Cutting-Edge Advances in Cystic Fibrosis: From Gene Therapy to Personalized Medicine and Holistic Management

Genes, Journal Year: 2025, Volume and Issue: 16(4), P. 402 - 402

Published: March 30, 2025

Cystic fibrosis (CF), a genetic disorder characterized by mutations in the CFTR gene, has seen significant advances treatment through cutting-edge approaches such as gene therapy and personalized medicine. This review examines current emerging strategies shaping CF care, focusing on novel therapies that target root cause of optimize patient outcomes. modulators have transformed cystic management enhancing protein function for specific mutations, leading to improved lung quality life. Concurrently, offers transformative potential aiming correct using tools like CRISPR/Cas9 or prime editing, though challenges remain delivery long-term efficacy. The integration precision medicine, facilitated genomic computational technologies, allows plans account variability disease severity. Complementing these approaches, holistic emphasizes importance psychological support nutritional optimization, acknowledging CF’s multi-system impact. Future directions include exploring anti-inflammatory agents microbiome modulation further mitigate morbidity. However, global disparities access continue challenge equitable healthcare delivery, underscoring need policy reform international cooperation. By synthesizing developments, this highlights modern treatments, advocating continued innovation equity, with ultimate goal dramatically improving life expectancy individuals CF.

Language: Английский

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Exploration of Olfaction and ChiPSO in Pediatric Cystic Fibrosis

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(8), P. 2583 - 2583

Published: April 9, 2025

Background/Objectives: Olfactory dysfunction (OD) is a common symptom among people with cystic fibrosis (PwCF) and contributes to environmental safety concerns, nutritional challenges, an overall diminished quality of life. OD perceived progress along the lifespan in PwCF, often due worsening sinonasal disease. Among children (CwCF), poorly characterized as limited resources tolerance contribute challenges psychophysical olfactory evaluation pediatric populations. The Children’s Personal Significance Olfaction (ChiPSO) questionnaire was recently proposed tool assess olfaction importance stimulation children. This pilot study aimed evaluate utility ChiPSO cohort ethnically diverse CwCF. Methods: Individuals aged 7–17 physician-diagnosed CF were asked complete questionnaires, including brief on (bQOD-NS), prior undergoing U-Sniff Identification test. Potential associations between questionnaires performance, pulmonary function, demographic characteristics evaluated using Pearson Spearman correlations, independent-sample t-tests, Wilcoxon rank sum tests, multiple linear regression. Results: score positively correlated total [r(13) = 0.640, p 0.010] its subdomain 0.774, < 0.001], though not food 0.450, 0.093], social 0.343, 0.2], or bQOD-NS [r(11) −0.125, 0.7]. Hispanic ethnicity associated (p 0.041). Conclusions: In this preliminary study, increases function sample CwCF, preferential influence personal information. While these results should be interpreted limitations imposed by nature our size, data highlights early adolescent development that can disrupted setting progressive disease

Language: Английский

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Trial design of bacteriophage therapy for nontuberculous mycobacteria pulmonary disease in cystic fibrosis: The POSTSTAMP study

Journal of Cystic Fibrosis, Journal Year: 2025, Volume and Issue: unknown

Published: April 1, 2025

Bacteriophages (phages) are viruses that selectively infect bacteria and have been utilized to treat Mycobacterium abscessus (Mab) with varying success. The POSTSTAMP study is an ongoing, multi-site phage therapy protocol for treatment-refractory pulmonary Mab disease in people cystic fibrosis (pwCF). Participants (n = 10) prospectively assessed while utilizing FDA investigational new drug (IND) approval compassionate use. >6 years old, able produce sputum, treated guideline-based antibiotic (GBT) >12 months without culture conversion, currently receiving GBT at least 3 ≥ 80 % positive cultures the prior year. At enrollment, isolate availability of lytic phage(s). Open-label consists 1 or 2 phages administered intravenously twice daily 52 weeks. a match will be followed on as comparison group. Follow-up visits occur monthly, one follow-up visit completion intermittent year after therapy. Efficacy by culture, standard clinical measures patient-reported quality-of-life instrument. Frequency detection 12 treatment compared 12-month period beginning 6 initiation. Individual-level tests difference percent within subjects used identify "responders". Collectively including all persons, mixed-effect model test frequency following treatment. trial also markers failure pathogen adaptation participants who did not achieve microbiological response, monitor safety tolerance.

Language: Английский

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Establishing a Xanthan Gum–Locust Bean Gum Mucus Mimic for Cystic Fibrosis Models: Yield Stress and Viscoelasticity Analysis

Biomimetics, Journal Year: 2025, Volume and Issue: 10(4), P. 247 - 247

Published: April 17, 2025

Airway mucus plays a critical role in respiratory health, with diseases such as cystic fibrosis (CF) being characterized by that exhibits increased viscosity and altered viscoelasticity. In vitro models emulate these properties are essential for understanding the impact of CF on airway function development therapeutic strategies. This study characterizes mimic composed xanthan gum locust bean gum, which is designed to exhibit rheological mucus. Mucus concentrations ranging from 0.07% 0.3% w/v were tested simulate different states bacterial infection CF. Key parameters, including yield stress, storage modulus, loss viscosity, measured using an HR2 rheometer strain sweep, oscillation frequency, flow ramp tests. The results show increasing concentration enhanced mimic’s elasticity values aligning those reported pathological states. These findings provide quantitative framework tuning vitro, allowing simulation across range concentrations. cost-effective, readily cross-linked, provides foundation future studies examining mechanobiological effects stress epithelial cell layers, particularly context infections disease modeling.

Language: Английский

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Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators

Molecular and Cellular Pediatrics, Journal Year: 2025, Volume and Issue: 12(1)

Published: May 5, 2025

Abstract Background Cystic fibrosis (CF) is a systemic disorder of exocrine glands that caused by mutations in the CFTR gene. Main body The basic defect people with CF (pwCF) leads to impaired epithelial transport chloride and bicarbonate can be assessed biomarkers, i.e. β-adrenergic sweat rate concentration (SCC), conductance nasal respiratory epithelium (NPD), urine secretion bicarbonate, intestinal current measurements (ICM) secretory responses rectal biopsies bioassays organoids or cell cultures. modulators are novel class drugs improve defective posttranslational processing, trafficking function mutant CFTR. By April 2025, triple combination therapy potentiator ivacaftor (IVA) correctors elexacaftor (ELX) tezacaftor (TEZ) has been approved Europe for treatment all pwCF who do not carry two minimal mutations. Previous phase 3 post-approval 4 studies harbour one alleles major mutation F508del consistently reported significant improvements lung anthropometry upon initiation ELX/TEZ/IVA compared baseline. Normalization SCC, NPD ICM correlated clinical outcomes on population level, but restoration was diverse predictive outcome individual patient. Theratyping non-F508del genotypes patient-derived cultures revealed most cases clinically meaningful increases activity exposure ELX/TEZ/IVA. Likewise, every second patient improved SCC indicating modulator potentially beneficial This group eligible may opt gene addition future, as first-in-human trial recombinant lentiviral vector underway. Future directions upcoming generation will probably experience rather normal life childhood adolescence. To classify personal signatures disease times efficient modulators, we need more sensitive biomarkers address long-term course airway gut microbiome, host defense, homeostasis multiorgan metabolism.

Language: Английский

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Results of Comparative Effectiveness of Pathogenetic Therapy with CFTR Modulators in Children with Cystic Fibrosis

Ural Medical Journal, Journal Year: 2025, Volume and Issue: 24(2), P. 95 - 108

Published: May 3, 2025

Background. Cystic fibrosis (CF) pharmacotherapy aims to restore CFTR protein function. Comparing modulators’ effectiveness can inform personalized treatment approaches. The aim of the study is evaluate modulator therapy in children with cystic fibrosis. Materials and methods . An open prospective comparative non-randomized (December 2022 — November 2023) included 81 CF patients aged 2–17 years: 35 received triple (elecsacaftor/tezacaftor/ivacaftor), 23 double (ivacaftor/lumacaftor), were controls without modulators. Evaluations occurred at baseline after 12 months. Results. Triple improved nutritional status, lung function (FEV1, FVC, MEF25–75), sweat chloride levels, pancreatic elastase, liver enzymes (alkaline phosphatase, GGTP); cholestasis markers (OB, alkaline GGTP). Controls showed declining function, worsening insufficiency, persistently elevated phosphatase. Targeted reduced hospitalizations due bronchopulmonary exacerbations. Conclusion. decreased hospitalization risks (HR = 2.09–11.00). had greater benefits than improving nutrition, respiratory lowering chlorides (normalizing 35.5 % patients). Double effectively cholestasis.

Language: Английский

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Lessons Learned from Precision Medicine in Other Lung Diseases

Respiratory medicine, Journal Year: 2025, Volume and Issue: unknown, P. 1 - 20

Published: Jan. 1, 2025

Language: Английский

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