The remaining barriers to normalcy in CF: Advances in assessment of CF lung disease
Heather N Muston1,2, Lucy Perrem3,4,5, Michael D Davis1,2
1Division of Pediatric Pulmonology, Allergy, and Sleep Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
Insights
Newborn screening for cystic fibrosis (CF) allows early diagnosis, but sensitive lung disease measures are needed to track treatment impact. Advances in breath analysis and physiology offer promising alternatives to imaging for assessing CF lung health.
Area of Science:
- Pulmonary Medicine
- Medical Diagnostics
- Genetics
Background:
- Newborn screening enables early cystic fibrosis (CF) diagnosis.
- Despite early diagnosis, many young CF patients develop lung disease, including obstructive airway disease and bronchiectasis.
- Effective CFTR modulator therapies offer potential to alter CF lung disease progression.
Purpose of the Study:
- To identify sensitive measures for early and mild CF lung disease.
- To assess the impact of CFTR modulator therapies on CF lung disease.
- To explore alternatives to chest imaging for CF lung disease assessment.
Main Methods:
- Review of current diagnostic approaches for CF lung disease.
- Discussion of limitations of chest imaging (CT, MRI) due to technology and radiation concerns.
- Exploration of advances in physiologic measurement techniques and exhaled breath analysis.
Main Results:
- Sensitive measures are crucial for evaluating the full impact of CFTR modulator therapies.
- Physiologic measurements and breath analysis present viable alternatives to imaging.
- These novel methods may help guide treatment decisions in CF patients.
Conclusions:
- Accurate assessment of early and mild lung disease is essential in cystic fibrosis.
- Physiologic and breath analysis techniques show promise for monitoring CF lung health.
- These methods could complement or replace traditional imaging, improving patient care and treatment efficacy.
Abstract:
Despite early diagnosis of cystic fibrosis (CF) through newborn screening, a substantial proportion of infants and young children with CF still demonstrate physiologic and structural evidence of lung disease progression, such as obstructive airway disease and bronchiectasis. The growing availability of highly effective CF transmembrane conductance regulatory modulator therapy to the vast majority of people with CF has led to the potential to alter the natural history of CF lung disease, but to assess the full impact of these therapies on CF lung disease and to help guide treatment, sensitive measures of early and mild disease are needed. Chest imaging using computed tomography or magnetic resonance imaging is one approach, but technologic barriers and/or concern about exposure to ionizing radiation may limit its use. However, advances in physiologic measurement techniques and exhaled breath analysis offer another option for assessment of CF lung disease.
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