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Life
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Cystic Fibrosis: A Disease with a New Face
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Cystic Fibrosis: A Disease with a New Face

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: 31 December 2024 | Viewed by 22086

Special Issue Editors

Dr. Janice Wang

E-Mail Website
Guest Editor
1. Department of Medicine, Division of Pulmonary Critical Care and Sleep Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA
2. Feinstein Institute for Medical Research, New Hyde Park, NY, 11042, USA
Interests: cystic fibrosis; sleep medicine; non-tuberculous mycobacteria; pulmonary medicine; critical care medicine
Dr. Patricia A. Walker

E-Mail Website
Guest Editor
Lenox Hill Medicine Associates, Department of Medicine, Division of Pulmonary Critical Care and Sleep Medicine, Northwell Health, Bay Shore, NY 11706, USA
Interests: cystic fibrosis; pulmonary medicine

Special Issue Information

Dear Colleagues,

Medical advancements in the field of Cystic Fibrosis (CF), a rare genetic disorder have been tremendous over the last decade, allowing care to evolve in ways previously unimaginable by those living with CF and those caring for people with CF. Life expectancy and quality of life are improving because of standardized CF care practices, effective respiratory treatments, and highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulator medications. It was no more than 50 years ago when parents of children with CF were likely told by their doctors that their child may not live past the age of 30. Today, the median predicted age of survival is 53 years for those born with CF today. Although the majority of the CF population are benefiting from the CFTR modulators, there remain people with CF without a treatment program targeting their specific genetic mutations. Clinical trials are underway investigating genetic-based therapeutics as a potential cure for CF.

In this Special Issue, “Cystic Fibrosis: A Disease with a New Face,” we revisit the past, review the present, and anticipate the future of CF as the medical and scientific field of this orphan disease makes remarkable advancements one would hope to see in every disease. We explore aspects of CF care that have transformed over time: newborn screening and diagnostic challenges in all ages, nutritional and medical guidelines, lung transplant, future therapeutics, comorbidities of an aging population, quality of life and well-being, family planning, and adaptations of the CF Center Care model.  

Dr. Janice Wang
Dr. Patricia A. Walker
Guest Editors

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Keywords

  • cystic fibrosis
  • CFTR modulator
  • CF newborn screening
  • CF nutrition
  • lung transplant in CF
  • CF family planning

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Published Papers (10 papers)

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Research

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9 pages, 1553 KiB  
Article
Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families
by Namibia Guadalupe Mendiola-Vidal, Cecilia Contreras-Cubas, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Ana Lucia Yañez-Felix, Humberto García-Ortiz, Federico Centeno-Cruz, Elvia Mendoza-Caamal, Carmen Alaez-Verson, Juan Luis Jiménez-Ruíz, Tulia Monge-Cázares, Esther Lieberman, Vicente Baca, José Luis Lezana, Angélica Martínez-Hernández and Lorena Orozco
Life 2024, 14(11), 1445; https://doi.org/10.3390/life14111445 - 7 Nov 2024
Viewed by 461
Abstract
Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-generation sequencing has improved [...] Read more.
Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-generation sequencing has improved our understanding of the contribution of these complex alleles to the wide spectrum of CF clinical symptoms and to the response to medications. Herein, we studied nine CF patients from six unrelated families carrying the complex allele p.[Ile148Thr;Ile1023_Val1024del] with a frequency of 0.18%. All patients were from Central Mexico. This complex allele was found in trans with Class I and II pathogenic variants such as p.(Phe508del), and p.(Phe1078Profs*77)]. A targeted search of a dataset of 2217 exomes from healthy individuals revealed that eight individuals (0.18%) carried the p.(Ile148Thr) variant, but only one (0.022%), who was also born in Central Mexico, was a carrier of the complex allele. These findings show an enrichment of this p.[Ile148Thr;Ile1023_Val1024del] complex allele in Mexican CF patients in this region of Mexico. Finally, protein modeling revealed that this complex allele disrupts the secondary structure of the CFTR protein and might alter the ion flow. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
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9 pages, 213 KiB  
Article
One-Year Effect of Elexacaftor/Tezacaftor/Ivacaftor Therapy on HbA1c Levels and Insulin Requirement in Patients with Insulin-Dependent Cystic Fibrosis-Related Diabetes: A Retrospective Observational Study
by Marta Bassi, Marina Francesca Strati, Gaia Spiandorello, Marta Scalas, Federico Cresta, Maria Grazia Calevo, Giuseppe d’Annunzio, Carlo Castellani, Nicola Minuto, Mohamad Maghnie and Rosaria Casciaro
Life 2024, 14(10), 1309; https://doi.org/10.3390/life14101309 - 16 Oct 2024
Viewed by 657
Abstract
Introduction: The impact of ETI therapy on pulmonary function and nutritional status has been widely studied; the literature on the possible outcomes on glycemic control and insulin requirement in patients affected by CFRD is controversial. Aim: The main objective of our study was [...] Read more.
Introduction: The impact of ETI therapy on pulmonary function and nutritional status has been widely studied; the literature on the possible outcomes on glycemic control and insulin requirement in patients affected by CFRD is controversial. Aim: The main objective of our study was to evaluate HbA1c levels in patients with cystic fibrosis-related diabetes (CFRD) after one year of therapy with elexacaftor/tezacaftor/ivacaftor (ETI). The secondary objective was to study the changes in the total daily insulin dose (TDD), pulmonary function and metabolism in this population. Materials and methods: A retrospective single-center observational study was conducted at the Regional Cystic Fibrosis Centre and Diabetology Centre of IRCCS Istituto Giannina Gaslini. The observation period was divided into four different time points: initiation (T0), 3 months (T3mo), 6 months (T6mo) and 12 months (T12mo) of ETI therapy. Demographic and clinical data were collected. The results were then stratified by genotype (homozygous or heterozygous F508del). Results: Twenty-eight patients with CFRD undergoing insulin therapy were included. TDD (IU) significantly decreased at T3mo and T6mo, but not at T12mo, whereas HbA1c decreased significantly at all three times. The number of hospitalizations and pulmonary exacerbations decreased significantly. Conclusion: We demonstrated both improvement in glycemic control (by means of HbA1c) and insulin requirement in insulin-dependent CFRD patients after one year of ETI treatment. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
11 pages, 553 KiB  
Article
Calcitonin Gene-Related Peptide Level in Cystic Fibrosis Patients
by Sabina Galiniak, Marek Biesiadecki, Iwona Rościszewska-Żukowska and Marta Rachel
Life 2024, 14(5), 565; https://doi.org/10.3390/life14050565 - 27 Apr 2024
Viewed by 1178
Abstract
Calcitonin gene-related peptide (CGRP) has long been implicated in both the physiology and pathophysiology of the respiratory tract. The objective of our study was to determine the serum concentration of alpha CGRP (αCGRP) in cystic fibrosis (CF) that arises from mutations in the [...] Read more.
Calcitonin gene-related peptide (CGRP) has long been implicated in both the physiology and pathophysiology of the respiratory tract. The objective of our study was to determine the serum concentration of alpha CGRP (αCGRP) in cystic fibrosis (CF) that arises from mutations in the gene responsible for encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Currently, there are not many data in the literature about the role of CGRP in CF. The serum level of αCGRP was estimated using the enzyme-linked immunosorbent assay among 64 patients with CF and 31 healthy controls. The αCGRP concentration in the CF group was 62.51 ± 15.45 pg/mL, while in the control group it was 47.43 ± 8.06 pg/mL (p < 0.001). We also compared the level of αCGRP in CF patients according to the type of CFTR mutation. Homozygotes for ΔF508 had higher αCGRP levels than heterozygotes (67.9 ± 10.2 vs. 54.5 ± 18.3 pg/mL, p < 0.01). The level of this neuropeptide was statistically higher in patients with severe disease than in those with mild CF (p = 0.003) when patients were divided into three groups by spirometry results. αCGRP concentration was not correlated with age, sex, clinical parameters, and pulmonary function test results in the study participants. The results of our study suggest a significant increase in the concentration of αCGRP in the serum of patients with CF compared to the control group. This observation opens interesting possibilities for understanding the role of αCGRP in the context of CF pathophysiology. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
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Review

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23 pages, 1871 KiB  
Review
Advances in the Cystic Fibrosis Drug Development Pipeline
by Christine Esposito, Martin Kamper, Jessica Trentacoste, Susan Galvin, Halie Pfister and Janice Wang
Life 2023, 13(9), 1835; https://doi.org/10.3390/life13091835 - 30 Aug 2023
Cited by 6 | Viewed by 3684
Abstract
Cystic fibrosis is a genetic disease that results in progressive multi-organ manifestations with predominance in the respiratory and gastrointestinal systems. The significant morbidity and mortality seen in the CF population has been the driving force urging the CF research community to further advance [...] Read more.
Cystic fibrosis is a genetic disease that results in progressive multi-organ manifestations with predominance in the respiratory and gastrointestinal systems. The significant morbidity and mortality seen in the CF population has been the driving force urging the CF research community to further advance treatments to slow disease progression and, in turn, prolong life expectancy. Enormous strides in medical advancements have translated to improvement in quality of life, symptom burden, and survival; however, there is still no cure. This review discusses the most current mainstay treatments and anticipated therapeutics in the CF drug development pipeline within the mechanisms of mucociliary clearance, anti-inflammatory and anti-infective therapies, restoration of the cystic fibrosis transmembrane conductance regulator (CFTR) protein (also known as highly effective modulator therapy (HEMT)), and genetic therapies. Ribonucleic acid (RNA) therapy, gene transfer, and gene editing are being explored in the hopes of developing a treatment and potential cure for people with CF, particularly for those not responsive to HEMT. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
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12 pages, 574 KiB  
Review
Diagnostic and Communication Challenges in Cystic Fibrosis Newborn Screening
by Joan Kathleen DeCelie-Germana, Lynn Bonitz, Elinor Langfelder-Schwind, Catherine Kier, Barry Lawrence Diener and Maria Berdella
Life 2023, 13(8), 1646; https://doi.org/10.3390/life13081646 - 28 Jul 2023
Cited by 3 | Viewed by 1693
Abstract
As of December 2009, cystic fibrosis (CF) newborn screening (NBS) is performed in all 50 US states and the District of Columbia. Widespread implementation of CF newborn screening (CFNBS) in the US and internationally has brought about new and varied challenges. Immunoreactive trypsinogen [...] Read more.
As of December 2009, cystic fibrosis (CF) newborn screening (NBS) is performed in all 50 US states and the District of Columbia. Widespread implementation of CF newborn screening (CFNBS) in the US and internationally has brought about new and varied challenges. Immunoreactive trypsinogen (IRT) remains the first, albeit imperfect, biomarker used universally in the screening process. Advances in genetic testing have provided an opportunity for newborn screening programs to add CFTR sequencing tiers to their algorithms. This in turn will enable earlier identification of babies with CF and improve longer-term outcomes through prompt treatment and intervention. CFTR sequencing has led to the ability to identify infants with CF from diverse ethnic and racial backgrounds more equitably while also identifying an increasing proportion of infants with inconclusive diagnoses. Using the evolution of the New York State CF newborn screening program as a guide, this review outlines the basic steps in a universal CF newborn screening program, considers how to reduce bias, highlights challenges, offers guidance to address these challenges and provides recommendations for future consideration. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
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13 pages, 283 KiB  
Review
Addressing Symptom Burden and Palliative Care Needs in Cystic Fibrosis: A Narrative Review of the Literature
by Stephanie DiFiglia, Lara Dhingra, Anna M. Georgiopoulos, Katherine Papia, Erin Sullivan, Amy Plachta, Courtney Boccio, Russell Portenoy and Melissa Basile
Life 2023, 13(8), 1620; https://doi.org/10.3390/life13081620 - 25 Jul 2023
Cited by 3 | Viewed by 1559
Abstract
Among people with cystic fibrosis (CF), illness burden is multifaceted, and symptoms may fluctuate in intensity across a lifespan. Caregivers of people with CF may also experience distressing symptoms. Recent developments in CF care, including the availability of highly effective modulator therapies (HEMTs) [...] Read more.
Among people with cystic fibrosis (CF), illness burden is multifaceted, and symptoms may fluctuate in intensity across a lifespan. Caregivers of people with CF may also experience distressing symptoms. Recent developments in CF care, including the availability of highly effective modulator therapies (HEMTs) and new palliative care guidelines promoting palliative care screening may help alleviate symptoms. The objective of this review was to present a narrative view of the recent literature on symptom burden in CF, new screening approaches informed by the Cystic Fibrosis Foundation (CFF) palliative care guidelines, and early data from studies examining the impact of HEMTs on CF symptom burden. A review of the relevant literature was conducted using Google Scholar and PubMed. Included articles covered approaches to burden assessment in CF and other chronic illnesses, epidemiology of CF symptom burden, the impact of HEMTs on symptom burden, and the CFF palliative care guidelines. A primary palliative care model implementing the CFF guidelines was also described. Results of this review show that while recent developments in CF care have led to a reduction in physical symptoms, mental health symptoms remain prevalent. Ongoing screening and triage can ensure that physical symptoms, psychological symptoms, social needs, practical problems, and communication concerns are addressed by care teams. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
18 pages, 507 KiB  
Review
Lung Transplantation in a New Era in the Field of Cystic Fibrosis
by Wei Huang, Alexander T. Smith, Maksim Korotun, Aldo Iacono and Janice Wang
Life 2023, 13(7), 1600; https://doi.org/10.3390/life13071600 - 21 Jul 2023
Cited by 2 | Viewed by 2683
Abstract
Lung transplantation for people with cystic fibrosis (PwCF) is a critical therapeutic option, in a disease without a cure to this day, and its overall success in this population is evident. The medical advancements in knowledge, treatment, and clinical care in the field [...] Read more.
Lung transplantation for people with cystic fibrosis (PwCF) is a critical therapeutic option, in a disease without a cure to this day, and its overall success in this population is evident. The medical advancements in knowledge, treatment, and clinical care in the field of cystic fibrosis (CF) rapidly expanded and improved over the last several decades, starting from early pathology reports of CF organ involvement in 1938, to the identification of the CF gene in 1989. Lung transplantation for CF has been performed since 1983, and CF now accounts for about 17% of pre-transplantation diagnoses in lung transplantation recipients. Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have been the latest new therapeutic modality addressing the underlying CF protein defect with the first modulator, ivacaftor, approved in 2012. Fast forward to today, and we now have a growing CF population. More than half of PwCF are now adults, and younger patients face a better life expectancy than they ever did before. Unfortunately, CFTR modulator therapy is not effective in all patients, and efficacy varies among patients; it is not a cure, and CF remains a progressive disease that leads predominantly to respiratory failure. Lung transplantation remains a lifesaving treatment for this disease. Here, we reviewed the current knowledge of lung transplantation in PwCF, the challenges associated with its implementation, and the ongoing changes to the field as we enter a new era in the care of PwCF. Improved life expectancy in PwCF will surely influence the role of transplantation in patient care and may even lead to a change in the demographics of which people benefit most from transplantation. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
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14 pages, 1069 KiB  
Review
Reproductive Counseling and Care in Cystic Fibrosis: A Multidisciplinary Approach for a New Therapeutic Era
by Julie McGlynn, Joan K. DeCelie-Germana, Catherine Kier and Elinor Langfelder-Schwind
Life 2023, 13(7), 1545; https://doi.org/10.3390/life13071545 - 12 Jul 2023
Cited by 4 | Viewed by 2177
Abstract
With the advent of highly effective modulator therapies, many people with cystic fibrosis (CF) are living longer, healthier lives. Pregnancy rates for women with CF more than doubled between 2019 and 2021, reflecting increases in both planned and unplanned pregnancies. For men with [...] Read more.
With the advent of highly effective modulator therapies, many people with cystic fibrosis (CF) are living longer, healthier lives. Pregnancy rates for women with CF more than doubled between 2019 and 2021, reflecting increases in both planned and unplanned pregnancies. For men with CF, CF-associated infertility can be mitigated with assistive reproductive technology, yet patient knowledge of these challenges and options is variable. Preconception and prenatal counseling for individuals with CF and for parents of children with CF who wish to expand their families requires nuanced discussions to promote informed reproductive decisions, drawing from a combination of standard practice recommendations and CF-specific assessments. This review article synthesizes the current literature and practice recommendations regarding reproductive counseling and care in CF, outlining the role of genetic counseling, carrier screening, teratogen counseling, in vitro fertilization and pre-implantation genetic diagnosis, and careful assessment and management of cystic fibrosis-related diabetes when present. Via a multidisciplinary, patient-centered approach, clinicians can support adults with CF and parents of children with CF as they make informed reproductive decisions and embark on family planning. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
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18 pages, 326 KiB  
Review
Evolving Nutritional Needs in Cystic Fibrosis
by Theresa Frantzen, Sara Barsky, Geralyn LaVecchia, Michelle Marowitz and Janice Wang
Life 2023, 13(7), 1431; https://doi.org/10.3390/life13071431 - 22 Jun 2023
Cited by 3 | Viewed by 3054
Abstract
The course of cystic fibrosis (CF) as a nutritional illness is diverging since the introduction of highly effective modulator therapy, leading to more heterogeneous phenotypes of the disease despite CF genetic mutations that portend worse prognosis. This may become more evident as we [...] Read more.
The course of cystic fibrosis (CF) as a nutritional illness is diverging since the introduction of highly effective modulator therapy, leading to more heterogeneous phenotypes of the disease despite CF genetic mutations that portend worse prognosis. This may become more evident as we follow the pediatric CF population into adulthood as some highly effective modulator therapies (HEMT) are approved for those as young as 1 year old. This review will outline the current research and knowledge available in the evolving nutritional health of people with CF as it relates to the impact of HEMT on anthropometrics, body composition, and energy expenditure, exocrine and endocrine pancreatic insufficiencies (the latter resulting in CF-related diabetes), vitamin and mineral deficiencies, and nutritional health in CF as it relates to pregnancy and lung transplantation. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
11 pages, 427 KiB  
Review
Future Comorbidities in an Aging Cystic Fibrosis Population
by Javier Humberto Ticona, Nicole Lapinel and Janice Wang
Life 2023, 13(6), 1305; https://doi.org/10.3390/life13061305 - 31 May 2023
Cited by 11 | Viewed by 3405
Abstract
Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. With the advent of highly effective modulator therapy targeting the abnormal CFTR protein, people with CF (PwCF) are living more than 40 years [...] Read more.
Cystic fibrosis (CF) is an autosomal recessive disease due to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. With the advent of highly effective modulator therapy targeting the abnormal CFTR protein, people with CF (PwCF) are living more than 40 years longer than the pre-modulator therapy era. As a result, PwCF are facing new challenges of managing similar comorbidities affecting the average aging population. While CF is notoriously identified as a chronic respiratory disease, the multisystem presence of the CFTR gene can contribute to other organ-related complications acutely, but also heighten the likelihood of chronic conditions not routinely encountered in this cohort. In this overview, we will focus on risk factors and epidemiology for PwCF as they relate to cardiovascular disease, dyslipidemia, CF-related diabetes, pulmonary hypertension, obstructive sleep apnea, CF-liver disease, bone health and malignancy. With increased awareness of diseases affecting a newly aging CF population, a focus on primary and secondary prevention will be imperative to implementing a comprehensive care plan to improve long-term morbidity and mortality. Full article
(This article belongs to the Special Issue Cystic Fibrosis: A Disease with a New Face)
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