Vertex Pharmaceuticals, a pharmaceutical company based in Boston, MA, announced that the U.S. FDA has approved ORKAMBI  (lumacaftor/ivacaftor) for the treatment of cystic fibrosis (CF) in people ages 12 and older with two copies of the F508del mutation.  CF is a rare genetic disorder caused by mutations in both copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.  When both copies of the CFTR gene are defective, the flow of salt and water into or out of cells in a number of organs, especially lungs are impeded resulting in thick mucus and mucus build-up in the lungs, which leads to frequent infections.  Among the mutations of CFTR gene, F508del mutation represent the largest group of people with CF.  Orkambi is a combination of lumacaftor, which is designed to increase the amount of mature protein on the cell surface by addressing the specific defect of the F508del CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it trafficked to the cell surface.  CF is a devastating disease and Orkambi is the first medicine approved by the FDA to treat the underlying genetic cause of CF.

 

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