Here’s promising news for the more than 70,000 people around the world with cystic fibrosis: researchers have recently identified a new combination of medications called Orkambi that can be used to treat victims of cystic fibrosis. Cystic fibrosis is a life-threatening genetic disease characterized by a buildup of unusually thick and sticky mucus throughout the body. Oftentimes, this mucus buildup is centered in the respiratory system, causing permanent lung damage. Cystic fibrosis patients also frequently experience digestive system complications and excrete extremely salty sweat. As a result, the average life expectancy of cystic fibrosis patients is a mere 37 years. Cystic fibrosis occurs if a child inherits two copies of a defective CFTR (cystic fibrosis transmembrane conductance regulator) gene. One particular mutation of the CFTR gene, the F508del mutation, is responsible for over 50% of cystic fibrosis cases in the United States.
Image Source: Steve Devenport
Luckily for those with the F508del mutation, results published in the New England Journal of Medicine suggest that a new combination of the medications Ivacaftor and Lumacaftor is able to successfully treat the F508del mutation and improve the lung function of cystic fibrosis patients. Lumacaftor is a new experimental drug that is a CFTR corrector, which means that it facilitates the protein’s transport to the cell membrane. Ivacaftor is a CFTR potentiator, which allows the malfunctioning proteins to interact normally with the cell membranes. Working together, the Lumacaftor can thus facilitate the mutated protein to the cell membrane, where the Ivacaftor allows the protein and membrane to interact. As opposed to many other drugs that merely help ease the symptoms of cystic fibrosis, this combination of medications prevents the symptoms from occurring in the first place by allowing the mutated proteins to function normally. This combination of medications is currently in clinical trials, and will be in line to be approved by the FDA in July of this year. Hopefully, if Orkambi is passed, cystic fibrosis patients all around the world will be able to enjoy a much longer lifespan.
Feature Image Source: Helen for Cystic Fibrosis by JULIAN MASON
