Life | Special Issue : Cystic Fibrosis: A Disease with a New Face

Research

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11 pages, 553 KiB

Open AccessArticle

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://0-doi-org.brum.beds.ac.uk/10.3390/life14050565 - 27 Apr 2024

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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

Open AccessReview

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://0-doi-org.brum.beds.ac.uk/10.3390/life13091835 - 30 Aug 2023

Cited by 3 | Viewed by 2435

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

Open AccessReview

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://0-doi-org.brum.beds.ac.uk/10.3390/life13081646 - 28 Jul 2023

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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

Open AccessReview

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://0-doi-org.brum.beds.ac.uk/10.3390/life13081620 - 25 Jul 2023

Viewed by 1033

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

Open AccessReview

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://0-doi-org.brum.beds.ac.uk/10.3390/life13071600 - 21 Jul 2023

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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

Open AccessReview

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://0-doi-org.brum.beds.ac.uk/10.3390/life13071545 - 12 Jul 2023

Viewed by 1383

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

Open AccessReview

Evolving Nutritional Needs in Cystic Fibrosis

by Theresa Frantzen, Sara Barsky, Geralyn LaVecchia, Michelle Marowitz and Janice Wang

Life 2023, 13(7), 1431; https://0-doi-org.brum.beds.ac.uk/10.3390/life13071431 - 22 Jun 2023

Cited by 2 | Viewed by 2111

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

Open AccessReview

Future Comorbidities in an Aging Cystic Fibrosis Population

by Javier Humberto Ticona, Nicole Lapinel and Janice Wang

Life 2023, 13(6), 1305; https://0-doi-org.brum.beds.ac.uk/10.3390/life13061305 - 31 May 2023

Cited by 5 | Viewed by 2283

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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