Finding the most effective treatment for a patient is an often-frustrating reality and ongoing journey for those living with lifelong medical complications. For the 30,000 people in the United States who have been diagnosed with cystic fibrosis, new developments in treatment offer exciting ways to optimize their living, providing them healthier and more fulfilling lives.
With new pharmaceutical options being researched constantly, the development and consequent release of medicines that may address the root cause of the disease’s symptoms are an exciting addition to a patient’s treatment plan.
Cystic fibrosis is a rare, potentially life threatening genetic disease caused by a defect in one of many genes resulting in many respiratory and digestive problems. Although symptoms vary depending on the specific genetic mutation one is living with, CF patients often experience a buildup of mucus in the lungs, pancreas and other organs. In the lungs, that buildup can result in blocked airway passages, decreased lung functioning, reoccurring infections and potential respiratory failure. In the pancreas, the mucus acts as a wall blocking the release of digestive enzymes, preventing the absorption of essential nutrients and leading to malnutrition.
Life expectancy has increased dramatically over recent decades. Though infants used to rarely survive a diagnose of cystic fibrosis, right now, people living with cystic fibrosis have a life expectancy of approximately 37-40 years, and sometimes even longer.
The treatment of cystic fibrosis is typically structured around finding ways to control dangerous and potentially life threatening symptoms of the disease, while making them more manageable for day-to-day life. This typically includes preemptively avoiding lung infection and treating an infection if it does arise, loosening and removing buildup of mucus in lungs to maintain function, maintaining proper nutrition and hydration, and preventing intestinal and digestive blockages.
Airway clearance techniques are used to loosen the buildup of mucus, allowing healthy airflow to the lungs and consequently reducing the risk of lung infection. Nebulizers may be used in combination with antibiotics and other medicines like mucus thinners to perform respiratory treatments in the privacy of one’s own home. Bronchodilators may be used to keep airways clear and oxygen therapy may be necessary for some. In addition, pancreatic enzyme supplements may be taken to aid in the digestion of food and make nutrients easier to absorb. But with all these different symptom management treatments, how does a patient target the underlying cause of their ailment?
Scientists have thus far discovered over 1,800 mutations of the CF gene, which makes treating the exact mutation difficult. But for some, the development of a new group of drugs called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) modulators allows the patient to directly target that specific CFTR protein. This target treatment works by regulating the flow of chloride and sodium in and out of the organs’ cell lining, which when disrupted leads to the dangerous buildup of mucus, risk of infection and digestive complications.
The research discussed above is just some of the extensive research being done to understand, manage, and even someday cure cystic fibrosis. Researchers around the world are seeking to understand what causes it and how its effects can be limited or eliminated for people with cystic fibrosis of all ages.
This research is ongoing, and progress is made every year. For more information, Cystic Fibrosis Foundation has a great resource for seeing drugs currently in the development pipeline. We look forward to seeing what breakthroughs come next!