On July 2, 2015, the FDA approved the break through Cystic Fibrosis drug Orkambi (http://investors.vrtx.com/releasedetail.cfm?ReleaseID=920512). This CF drug, which is produced by Vertex Pharmaceuticals, together with an earlier developed CF medication, Kalydeco, are the first medications to try and counteract the underlying genetic defect that causes the disease, as opposed to only treating symptoms of this disease, as historic medications have done.
Approximately 30,000 Americans have CF, which is characterized by the buildup of sticky mucus in the lungs, causing frequent infections and a gradual decline in lung function. Orkambi has been approved for those cystics who have two copies of the CF gene mutation F508del, of which about half of those 30,000 individuals hold these two mutations. Of that subset, Orkambi has been approved for around 8,500 individuals aged 12 and older.
Orkambi’s approval was based on data from two double blinded, placebo controlled Phase 3 studies (TRAFFIC and TRANSPORT). Results of those studies experienced statistically significant improvements in lung function, as well as decreases in pulmonary exacerbations (IV and/or hospital treatments) and improvements in Body Mass Index (BMI).
Orkambi combines lumacaftor and ivacaftor to treat these problems with a two-step approach. Lumacaftor helps move the defective CFTR protein to its proper place at the cell surface. Ivacaftor increases the activity of the protein once it is there, supporting the flow of salt and fluids, which helps thin the thick mucus that builds up in the lungs of people with Cystic Fibrosis (https://www.cff.org/News/News-Archive/2015/CF-Foundation-Celebrates-FDA-Approval-of-Orkambi-as-Important-Advance-for-the-CF-Community/ ).
As stated above, at this point, Orkambi has been approved only for those CF patients with two copies of the F508del. F508del is a deletion mutation on the cystic fibrosis transmembrane conductance regulator or CFTR protein which causes abnormal transport of sodium through membranes, leading to inflammation and mucus deposition in the lungs of patients (http://cysticfibrosisnewstoday.com/orkambi-lumacaftor-ivacaftor-vertex /).
Orkambi is taken as a dose of two tablets every 12 hours (morning and evening) with fat-containing foods.
Please see the video introduction of this topic at YouTube – https://youtu.be/Z2hSS0wjZt8
NEXT POST to Our CF Matters Hawaii, September 19th – “Cystic Fibrosis gene mutation F508del. What is it?”