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Precision Medicine Cystic Fibrosis
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Precision Medicine Cystic Fibrosis

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (20 October 2024) | Viewed by 15707

Special Issue Editor

Dr. Francesco Amati

E-Mail Website
Guest Editor
Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20072 Milan, Italy
Interests: interstitial lung disease; pulmonary fibrosis; orphan lung diseases; non-cystic fibrosis bronchiectasis; pneumonia/pulmonary infection; sarcoidosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cystic Fibrosis (CF) is the most common genetic disease in Caucasians, caused by mutations in the CFTR (cystic fibrosis transmembrane regulator) gene. It is inherited via an autosomal recessive pattern and is characterized by dysfunctional chloride transport across epithelial membranes. This condition results in a multiorgan disease with primarily pulmonary infections and pancreatic insufficiency. Until recently, treatment was directed at managing the downstream effects and at treating the symptoms in affected organs. Thus, goals of treatment were represented by improving airway clearance, dyspnoea and treating infection in the lungs and improving malabsorption in the gastrointestinal tract. However, the development of small-molecule CFTR modulator drugs over the last years has paved the way to a new era of CF therapeutics. Modulators target the underlying defect and improve CFTR function depending on the specific genotype and class of CFTR disease-causing variants that an individual has. Moreover, adult CF patients are characterized by several comorbidities. Personalized care, delivered by multidisciplinary teams and tailored on the patients' phenotype, leads to improvements in clinical outcomes of CF patients. Thus, the future of CF lies in precision medicine approaches based on phenotypic and endotypic features. The aim of Special Issue “Precision Medicine Cystic Fibrosis” is to outline the status of knowledge in this field.

Dr. Francesco Amati
Guest Editor

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Keywords

  • precision medicine
  • cystic fibrosis
  • endotype
  • phenotype

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Published Papers (4 papers)

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Research

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25 pages, 954 KiB  
Article
Calcium, Phosphorus, and Vitamin D Levels in a Series of Cystic Fibrosis Patients: A Cross-Sectional Study
by Marlene Fabiola Escobedo-Monge, Marianela Marcos-Temprano, Joaquín Parodi-Román, María Antonieta Escobedo-Monge, Carmen Alonso-Vicente, María Carmen Torres-Hinojal and José Manuel Marugán-Miguelsanz
Int. J. Mol. Sci. 2024, 25(3), 1900; https://doi.org/10.3390/ijms25031900 - 5 Feb 2024
Cited by 3 | Viewed by 4008
Abstract
Cystic fibrosis (CF) is a monogenic disease with different types of mutations that mainly affect the respiratory-digestive system. Calcium (Ca), phosphorus (P), and vitamin D (Vit-D) are essential nutrients for maintaining adequate growth and development, as well as key components in crucial metabolic [...] Read more.
Cystic fibrosis (CF) is a monogenic disease with different types of mutations that mainly affect the respiratory-digestive system. Calcium (Ca), phosphorus (P), and vitamin D (Vit-D) are essential nutrients for maintaining adequate growth and development, as well as key components in crucial metabolic pathways. Proper diagnosis, treatment, and response are decisive components of precision medicine. Therefore, we conducted a cross-sectional study to evaluate Ca, P, and Vit-D levels along with health and nutritional indicators, regarding their non-skeletal functions, in a series of CF patients. Anthropometric and clinical evaluation, biochemical analysis, dietary survey, and respiratory and pancreatic status were performed. Even though the results showed that all patients had normal dietary and serum Ca levels, 47% of patients had deficient Vit-D intake, 53% of patients had hypovitaminosis D, 35% had insufficient Vit-D levels, 18% had hypophosphatemia, 76% had elevated alkaline phosphate levels, 29% had hypercalciuria, and 65% had hyperphosphaturia. There were no significant differences between homozygous and compound heterozygous patients. Ca, P, and Vit-D levels were associated with body mass index; body composition; physical activity; diet; growth hormones; and the immune, liver, and kidney systems. We suggest a periodically evaluation of Ca and P losses. Full article
(This article belongs to the Special Issue Precision Medicine Cystic Fibrosis)
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16 pages, 4214 KiB  
Article
Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators
by Michela Capraro, Marco Pedrazzi, Roberta De Tullio, Marcello Manfredi, Federico Cresta, Carlo Castellani and Monica Averna
Int. J. Mol. Sci. 2023, 24(17), 13384; https://doi.org/10.3390/ijms241713384 - 29 Aug 2023
Viewed by 1511
Abstract
Background: The most recent modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta®), has been shown to improve clinical outcomes in most patients with cystic fibrosis (PwCF). Unfortunately, the clinical benefits are sometimes variable; thus, improving our knowledge of the possible causes of this variability can [...] Read more.
Background: The most recent modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta®), has been shown to improve clinical outcomes in most patients with cystic fibrosis (PwCF). Unfortunately, the clinical benefits are sometimes variable; thus, improving our knowledge of the possible causes of this variability can help reduce it. Methods: Circulating mononuclear cells (CMCs) and plasma were collected from 16 PwCF (including those on Trikafta® therapy) and 4 non-CF subjects. Cystic fibrosis transmembrane conductance regulator (CFTR) activity and matrix metalloprotease 9 (MMP9) expression were monitored before and after therapy, together with some clinical parameters. The relationship between MMP9 expression and the modulation of the extracellular-regulated 1/2 (ERK1/2) and nuclear factor-kB (NF-kB) pathways was also analyzed. Results: MMP9, markedly expressed in the CMCs and plasma of all the patients included in the study, was downregulated in the clinically responsive PwCF. In the non-responder, the MMP9 levels remained high. The modulation of MMP9 following treatment with Trikafta® may be controlled by the NF-kB pathway. Conclusions: These data strongly suggest that MMP9 downregulation is a potential biomarker of therapy efficacy and that it could be useful in understanding the molecular events underlying the variable clinical responses of patients to Trikafta®. This knowledge could be helpful for future studies of personalized medicine and thereby ensure improvements in individual responses to therapies. Full article
(This article belongs to the Special Issue Precision Medicine Cystic Fibrosis)
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Review

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17 pages, 1225 KiB  
Review
A Gastroenterologist’s Guide to Care Transitions in Cystic Fibrosis from Pediatrics to Adult Care
by Dhiren Patel, Michelle Baliss, Pavithra Saikumar, Laith Numan, Jeffrey Teckman and Christine Hachem
Int. J. Mol. Sci. 2023, 24(21), 15766; https://doi.org/10.3390/ijms242115766 - 30 Oct 2023
Cited by 2 | Viewed by 1958
Abstract
Cystic Fibrosis is a chronic disease affecting multiple systems, including the GI tract. Clinical manifestation in patients can start as early as infancy and vary across different age groups. With the advent of new, highly effective modulators, the life expectancy of PwCF has [...] Read more.
Cystic Fibrosis is a chronic disease affecting multiple systems, including the GI tract. Clinical manifestation in patients can start as early as infancy and vary across different age groups. With the advent of new, highly effective modulators, the life expectancy of PwCF has improved significantly. Various GI aspects of CF care, such as nutrition, are linked to an overall improvement in morbidity, lung function and the quality of life of PwCF. The variable clinical presentations and management of GI diseases in pediatrics and adults with CF should be recognized. Therefore, it is necessary to ensure efficient transfer of information between pediatric and adult providers for proper continuity of management and coordination of care at the time of transition. The transition of care is a challenging process for both patients and providers and currently there are no specific tools for GI providers to help ensure a smooth transition. In this review, we aim to highlight the crucial features of GI care at the time of transition and provide a checklist that can assist in ensuring an effective transition and ease the challenges associated with it. Full article
(This article belongs to the Special Issue Precision Medicine Cystic Fibrosis)
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18 pages, 651 KiB  
Review
Efficacy of Pirfenidone and Nintedanib in Interstitial Lung Diseases Other than Idiopathic Pulmonary Fibrosis: A Systematic Review
by Francesco Amati, Anna Stainer, Veronica Polelli, Marco Mantero, Andrea Gramegna, Francesco Blasi and Stefano Aliberti
Int. J. Mol. Sci. 2023, 24(9), 7849; https://doi.org/10.3390/ijms24097849 - 25 Apr 2023
Cited by 32 | Viewed by 7063
Abstract
Pirfenidone and nintedanib are antifibrotic medications approved for idiopathic pulmonary fibrosis treatment by regulatory agencies and available for clinical use worldwide. These drugs have been shown to reduce the rate of decline in forced vital capacity and the risk of acute exacerbation among [...] Read more.
Pirfenidone and nintedanib are antifibrotic medications approved for idiopathic pulmonary fibrosis treatment by regulatory agencies and available for clinical use worldwide. These drugs have been shown to reduce the rate of decline in forced vital capacity and the risk of acute exacerbation among patients with idiopathic pulmonary fibrosis. Recent data suggest that different interstitial lung diseases with a progressive pulmonary fibrosis phenotype can share similar pathogenetic and biological pathways and could be amenable to antifibrotic therapies. Indeed, historical management strategies in interstitial lung disease have failed to identify potential treatments once progression has occurred despite available drugs. In this systematic review, we summarized data on the efficacy of pirfenidone and nintedanib in interstitial lung diseases other than idiopathic pulmonary fibrosis as well as ongoing and upcoming clinical trials. We identify two well-designed trials regarding nintedanib demonstrating the efficacy of this drug in slowing disease progression in patients with interstitial lung diseases other than idiopathic pulmonary fibrosis. On the other hand, results on the use of pirfenidone in interstitial lung diseases other than idiopathic pulmonary fibrosis should be interpreted with more caution on the basis of trial limitations. Several randomized control trials are underway to improve the quality of evidence in the interstitial lung disease field. Full article
(This article belongs to the Special Issue Precision Medicine Cystic Fibrosis)
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