Cystic Fibrosis is an inherited autosomal recessive genetic disorder that proves to be major challenge for drug developer long with various hurdles like the efforts of research being restricted and terrifying scientific disputes in order to get adequate information on the condition, which is known to disturb one in every 3000 newborns. Nevertheless, it is said that the coming years are full of advancements for treating Cystic Fibrosis and improvements in recent year have had a remarkable impact on patients who are dealing with Cystic Fibrosis as the life expectancy has increased making it 50 years in countries that provide advanced treatments.
The cause of cystic fibrosis is the cystic fibrosis transmembrane conductance regulator (CFTR) gene having mutations that code for the cystic fibrosis transmembrane conductance regulator protein. The major role of this protein is to regulate the most important function of the pancreas and lungs by facilitating the movements of chloride ions of cells in and out with the aim of balancing water and salt on the exocrine epithelial surfaces. When a newborn inherits aberrant copies of the cystic fibrosis transmembrane conductance regulator gene from both parents, it results in an impaired chloride channels which then stops water and sodium to cross through the epithelial cells causing Cystic Fibrosis.
Due to this disorder the mucus tends to be thicker than usual and invites various bacterial infections and blockage in the lungs. Additional issues caused by Cystic fibrosis include infertility in males, digestive issues, poor growth and abnormal weight gain. The options for treatment were limited dependent upon individual symptoms and treatments to deal with lung infections, until recent times. The most important moment for Cystic Fibrosis occurred in 1989 when the identification of the cystic fibrosis transmembrane conductance regulator gene causing this problem was brought into light. This awakened new possibilities for treating the root causes of Cystic Fibrosis and not just the symptoms with new gene therapies.
In recent years a new cystic fibrosis transmembrane conductance regulating drug has been introduced in the market. These therapies are constructed to correct a mutated cystic fibrosis transmembrane conductance regulator gene that regulates incorrect functions of cystic fibrosis transmembrane conductance regulator protein. Kalydeco which first of such a drug which is vertex-based and was introduced for Cystic Fibrosis and it proved to be a wonder following its approval from the Food And Drug Administration in the year of 2012. Vertex has been developing combination therapies with the aim of making the treatments of Cystic Fibrosis more effective. Orkambi, which is a combination of lumacaftor and ivacaftor has proven to be a significant combination of therapy and was approved by the FDA in the year of 2015.