Cystic fibrosis care today—a narrative review based on views of experts, patients and the public

Cystic fibrosis (CF) is one of the most common, rare congenital disorders in Austria. In 2012, the first new targeted medication, known as highly effective modulator therapy (HEMT), was approved. These therapeutics improve the function of many, but not all, affected organ systems. As a result, new aspects have emerged in the understanding and treatment of CF.

Patient and public involvement (PPI) could provide important perspectives on the experiences of people living with or impacted by a chronic health condition. In this review article, experts and family members describe CF disease and the care of people with CF at home, in healthcare and childcare facilities in Austria. The aim of the review article was to collate current evidence and their interpretation on both contextual and personal levels, provided by experts and family members in the format of a narrative review. We describe contemporary evidence and expert and patient perspectives on CF management in an Austrian CF center and subjectively examine the relevance of evidence and current recommendations.

Cystic fibrosis is considered a birth defect, an inborne disability or congenital anomaly in international legislation [1]. It is a monogenic multiorgan disease caused by disease-causing variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene [2]. It is the most common life-limiting genetic disease among people of European descent. Worldwide, over 100,000 individuals are affected. In Austria, 877 people with CF are currently registered in the European CF Registry, including 358 children under the age of 18 years [3]. Conventional treatment aims at downstream effects of CFTR dysfunction [4]. Without treatment, the majority of children would die within the first years of life; with extensive conventional treatment the average life expectancy is approximately 52 years [5]. Computer simulations suggest a significant increase in life expectancy due to the newly available HEMT [6], which is approved only for specific variants in the CFTR gene and age groups, which may vary between national authorities [7]. The most common life-limiting organ manifestations of CF affect the airways, the lungs and the gastrointestinal tract [2].

For this narrative review, we established a public patient involvement (PPI, consumer involvement) group [8]. Experts and families in the CF centre Graz were invited to write a review for the public.

Members of the PPI group were recruited during outpatient visits and through professional networks. Patients, family members, experts, and pediatricians were invited to contribute to a PPI group and a narrative review. Out of five people from the public approached four were willing to engage in the PPI activities. The current PPI group consists of a physician and mother of a school-aged girl with CF, a private practice pediatrician and a couple who are parents of two preschool-aged boys with CF. The research question of this work was on contemporary evidence and personal views on current CF management by involving experts in the field and our newly established PPI group [9]. Literature published from 2000 to 2024 in English and German on CF care was searched in PubMed and Google. Original papers, reviews and consensus recommendations were considered and summarized across all levels of expertise involved in this work. Search terms were: cystic fibrosis, cystic fibrosis lung disease, lung function in cystic fibrosis, cystic fibrosis liver disease (CFLD), cystic fibrosis related diabetes (CFRD), CFTR modulator therapy and cystic fibrosis care. This review involves the PPI group members as authors. Interviews were not performed. In the context of this review, the “involvement” component of PPI refers to activities and research carried out with members of the public. Following informal meetings and written correspondence, the focus of this research was jointly identified, the body of this work was edited and enriched by perspectives on relevant subjects in CF care. Members of the PPI were equal partners in this research and considered for all key decisions during this project [10]. The PPI group provided information on personal experiences, for example, on practicability of hygiene safety measures, and were consulted on all aspects including, for example, wording such as “survival”. The PPI group lead all aspects of personal viewpoints.

For this work, we included members of the public including parents, caregivers and experts in CF. We identified unmet needs and priorities from a caregiver’s perspective. Revised hygiene safety and treatment recommendations for people with CF taking HEMT seem warranted. We assume that involving children and parents can improve communication, trust in research and treatment adherence; however, we could not include children and adults with CF yet. Involvement of children and adults with CF into PPI projects on a regular basis remains to be established at our center. We aim to extend our evolving PPI group to people with CF allowing their contribution in future CF research. Future work should consider (i) conceptual models for PPI and (ii) estimates of impact of PPI including costs or benefit of PPI [8, 77].

We acknowledge that this work has limitations in several aspects. In general, the interpretation of narrative reviews should be cautious as systematic grading the strength of recommendation based on evidence is usually not provided. For most of the suggestions made including those for hygiene prevention measures, evidence is scarce and largely based on expert views. Including input from multiple families and people at different stages of the disease would have added greater granularity. Lack of funding influenced communication in the PPI team and constrained regular exchange during working hours. Yet, written correspondence enabled working at times convenient for the team. A further limitation of PPI in CF is that face-to-face collaborative meetings are discouraged for people with CF or other muco-obstructive lung diseases due to potential risks of cross-infection [44].

We acknowledge the psychological and social burden of strict hygiene recommendations and the uncertainty in how HEMT might ultimately change these recommendations. There is an unmet need for updated evidence-informed hygiene guidance [78].

The use of HEMT improves and can stabilize lung disease but does not eliminate CF-related organ damage or treatment burden. Infection risk is reduced but persists, requiring ongoing hygiene and surveillance. Currently, daily hygiene and therapeutic procedures are time-consuming, yet remain the core of CF management despite HEMT. Digestion and thriving usually improve during HEMT, however, most people still need PERT and other supportive therapies. Long-term organ outcomes under HEMT remain uncertain.

The treatment and care of children and adults with CF remains extensive, complex and involves significantly more effort compared to their healthy peers. Continued, structured training of healthcare professionals, educators and families is needed to ensure sustained CF-specific, age-appropriate hygiene measures and medication. With or without modulator treatment adapted, PPI-informed guidelines for hygiene and childcare seem warranted.

Sustained and meaningful collaboration between patients, the public, and researchers can foster effective partnerships, ensuring that health research aligns with patient needs and healthcare for people with CF advances [79]. Public and patient involvement has proven valuable in identifying priorities and should be expanded to include children and adults. Public and patient involvement ensures bi-directional knowledge transfer between experts and those affected, allows further collaborative development of drugs, and intends to encourage the development of similar models beyond CF, especially for chronic congenital diseases.