I distinctly remember whispers when I was in medical school about potentially groundbreaking treatments in the works that might finally make cystic fibrosis an illness of the past. Regrettably, these predictions have not manifested; cystic fibrosis is still very much a condition that carries a high morbidity and mortality rate.
It is tempting to desire a cure-all for a disease that has brought so much misery since antiquity, which was recognized in the past by the salty sweat produced by infant patients. Certainly, many ancient diseases have become benign and treatable, such as diabetes, for example.
Nevertheless, if we take a wider view of things, we see that improvements have been made in how physicians approach cystic fibrosis—improvements that we will explore here.
A Range of Therapeutic Advancements
In the European Journal of Pediatrics, Bierlaagh and colleagues wrote a review titled “A New Era for People With Cystic Cibrosis.” They detailed improvements in the way cystic fibrosis is diagnosed and treated, and how these improvements have impacted prognosis for the better.
“The enormous change in therapeutic development and treatment regimen has changed the life expectancy of [patients with cystic fibrosis] tremendously,” they wrote. “Cystic fibrosis used to be a childhood disease, but the latest registry data shows that 51.2% of all [patients with cystic fibrosis] in Europe are adults.”
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It is a reliable sign that things are improving when a rare disease moves from the “childhood” category to that of “adulthood,” since it suggests that people are living longer. However, a longer lifespan may also mean prolonged suffering if available treatments do not adequately treat the symptoms of the disease.
There are 3 goals when it comes to the symptomatic treatment of cystic fibrosis, all of which ideally should be administered daily: airway clearance drugs, antimicrobial agents, and pancreatic enzyme replacement therapy.
The first 2 approaches target the high prevalence of pulmonary infections in patients with cystic fibrosis, which are among the most frequent causes of hospital admissions in this population. Moreover, patients are particularly susceptible to being infected by resistant pathogenic organisms.
Current research is focusing on refining the antimicrobial regime for patients with cystic fibrosis. The goal, quite simply, is to reduce one’s vulnerability to pulmonary infection and to speed up recovery if an infection does occur. One study is focused on creating drugs that can disrupt the biofilms of infectious organisms to enhance antibiotic penetrance.
Another area of research focuses on the problem of mutant cystic fibrosis transmembrane conductance regulator (CFTR) proteins. The CFTR gene was discovered in 1989, and scientists successfully developed CFTR modulators around a decade ago. The next therapeutic goal is to assess the effectiveness of modulator therapy and investigate if certain symptomatic therapies can be ceased if it proves to be sufficiently potent.
Gene therapy is another exciting field that has received considerable interest from researchers of many rare diseases, including cystic fibrosis. Current studies are evaluating the effectiveness of using mRNA therapies to target genetic alterations in cystic fibrosis. In addition, scientists are assessing the delivery of normal CFTR-encoded mRNA to the lungs via a nebulizer.
“This therapy would work for all [patients with cystic fibrosis] regardless of their individual mutation,” Bierlaagh et al wrote. “The downside of this type of therapy is that, for now, the technique can only be applied locally in the lungs due to the instability of mRNA.”
Cystic Fibrosis Today
Even as current research trends on cystic fibrosis show promise, it is worth remembering how treatment is administered for the vast majority of patients today.
In the United States, patients with cystic fibrosis are typically evaluated at least 4 times a year at an accredited care center. These care centers provide patient-centered care in a multidisciplinary setting. For infants under 6 months of age, evaluations take place every month or every other month.
“These regular visits allow for education surrounding airway clearance methods, infection prevention, monitoring of age-appropriate growth and weight gain, and in older children, the assessment of lung function,” Dickinson and colleagues wrote in Pediatrics In Review.
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Many medical resources are spent on preventing pulmonary exacerbations of the disease, which is an acute worsening of symptoms, typically encompassing coughing, wheezing, reduced pulmonary function, fatigue, and weight loss. The mainstay treatment remains antibiotics and the clearance of secretions from the airways.
There is also a mental health component to the disease that physicians should consider. Living with a chronic disease such as cystic fibrosis means fewer opportunities to participate in social activities and activities of daily living. This can exact a heavy mental health burden; around 41% of patients report having both anxiety and depression.
While being mindful of the state of cystic fibrosis care in the here and now, we can continue to use our imagination in science to think of new ways to treat this disease. May the decades ahead prove fruitful in our quest to cure cystic fibrosis once and for all.
Bierlaagh MC, Muilwijk D, Beekman JM, van der Ent CK. A new era for people with cystic fibrosis. Eur J Pediatr. 2021;180(9):2731-2739. doi:10.1007/s00431-021-04168-y
Dickinson KM, Collaco JM. Cystic fibrosis. Pediatr Rev. 2021;42(2):55-67. doi:10.1542/pir.2019-0212