What is cystic fibrosis (CF)?

From the Guidelines

Cystic fibrosis patients should receive a comprehensive treatment approach that includes airway clearance techniques, medication regimens, and nutritional support to manage symptoms and prevent complications, as this has been shown to improve lung function, quality of life, and reduce exacerbations 1.

Treatment Approach

The treatment of cystic fibrosis is multifaceted and typically involves:

• Airway clearance techniques performed 2-4 times daily, including chest physiotherapy, oscillating positive expiratory pressure devices, or high-frequency chest wall oscillation vests
• Medication regimens that often include inhaled bronchodilators like albuterol, mucolytics such as hypertonic saline (3-7%) and dornase alfa (Pulmozyme), and antibiotics for infection management
• Nutritional support, including pancreatic enzyme replacement therapy with meals (typically 500-4,000 lipase units per kg per meal), fat-soluble vitamin supplements (A, D, E, K), and a high-calorie, high-protein diet

Medication Regimens

For patients with specific mutations, CFTR modulators like ivacaftor (Kalydeco), lumacaftor/ivacaftor (Orkambi), tezacaftor/ivacaftor (Symdeko), or elexacaftor/tezacaftor/ivacaftor (Trikafta) can significantly improve lung function 1.

Nutritional Support

Regular monitoring through pulmonary function tests, sputum cultures, and nutritional assessments is essential for adjusting treatment, and early diagnosis through newborn screening and comprehensive care at specialized CF centers has dramatically improved life expectancy, which now extends into the 40s and beyond for many patients 1.

Key Considerations

• The use of inhaled tobramycin, dornase alfa, and hypertonic saline can improve lung function and reduce exacerbations in patients with moderate to severe lung disease 1
• The use of azithromycin can improve lung function and reduce exacerbations in patients with Pseudomonas aeruginosa persistently present in cultures of the airways 1
• The use of oral antistaphylococcal antibiotics, inhaled corticosteroids, and oral corticosteroids is not recommended for routine use in patients with cystic fibrosis 1

From the FDA Drug Label

In CF patients, retention of viscous purulent secretions in the airways contributes both to reduced pulmonary function and to exacerbations of infection PULMOZYME is recombinant human deoxyribonuclease I (rhDNase), an enzyme which selectively cleaves DNA. In preclinical in vitro studies, PULMOZYME hydrolyzes the DNA in sputum of CF patients and reduces sputum viscoelasticity.

Cystic Fibrosis Treatment with Dornase Alfa:

• The drug label indicates that dornase alfa (PULMOZYME) is used to treat cystic fibrosis by breaking down DNA in purulent secretions, thereby reducing their viscoelasticity.
• The mechanism of action of PULMOZYME involves the selective cleavage of DNA by recombinant human deoxyribonuclease I (rhDNase).
• Clinical studies have shown that PULMOZYME can reduce the incidence of respiratory tract infections and improve pulmonary function in patients with cystic fibrosis 2.
• The safety and effectiveness of PULMOZYME have been established in pediatric patients, including those aged 3 months to less than 5 years 2.

From the Research

Cystic Fibrosis Overview

• Cystic fibrosis (CF) is a rare, inherited, life-limiting disorder that affects the lungs and digestive system 3.
• The disease is caused by mutations in the CFTR gene, which codes for a protein that regulates the movement of salt and water in and out of cells 3.

Treatment and Management

• Conventional chest physiotherapy (CCPT) is a common treatment for CF, but its effectiveness compared to other airway clearance techniques (ACTs) is uncertain 4.
• Studies have shown that CCPT is comparable to other ACTs, such as positive expiratory pressure (PEP), extrapulmonary mechanical percussion, and active cycle of breathing technique (ACBT), in terms of lung function and respiratory exacerbations 4.
• However, the certainty of the evidence is very low, and more research is needed to determine the most effective treatment strategies 4.
• Other treatments, such as albuterol, have been shown to improve lung function in patients with CF, but their effectiveness in improving exercise performance is unclear [(5,6)].

Quality of Life and Life Expectancy

• Advances in treatment and management have improved the quality of life and life expectancy of patients with CF [(3,7)].
• Specialized CF centers and multidisciplinary care teams have been shown to improve patient outcomes and reduce exacerbations 7.
• However, more research is needed to address the remaining knowledge gaps in CF care and to develop new and effective treatments 3.

Research and Development

• Ongoing research is focused on developing new treatments, such as genetic therapies and gene editing approaches, to restore CFTR function and improve patient outcomes 3.
• These advances have the potential to transform CF from a fatal disease to a treatable and potentially curable one 3.