by Andrew Black for Rare Disease Report
The FDA has approved Vertex Pharmaceuticals’ drug Orkambi (lumacaftor/ivacaftor) for use in children ages 6-11 years old with cystic fibrosis (CF) who have 2 copies of the F508del mutation.
Orkambi is the only drug approved to treat CF with this mutation and was previously approved for patients 12 years and older.
The FDA’s approval is based on data from Vertex’s open-label Phase 3 clinical safety study of Orkambi in patients 6-11 years old that has been previously presented at the 39th European Cystic Fibrosis Society Conference in June 2016.
OrkambiI is a combination of lumacaftor, which is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del CFTR protein, and ivacaftor, which is designed to enhance the function of the CFTR protein once it reaches the cell surface.
Patients whose ages range 6 through 11, should take 2 tablets (each containing lumacaftor 100mg/ivacaftor 125mg) orally every 12 hours – once in the morning and once in the evening – with fat-containing food.
High liver enzymes in the blood, which can be a sign of liver injury, have been reported in patients receiving Orkambi.
About Cystic Fibrosis
Cystic fibrosis (CF) is a rare life-shortening genetic disease that affects approximately 30,000 people in the United States and 70,000 people worldwide. The average age of death remains in the mid-20s. CF is caused by a defective or missing CFTR protein due to mutations in the CFTR gene. The CFTR protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes. More than 1,000 mutations in the CFTR gene have been identified in people with CF. The most common mutation is F508del.
Disease-causing mutations in the CFTR gene alter the production, structure, or stability of the chloride channel. All of these changes prevent the channel from functioning properly and cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is abnormally thick and sticky. The abnormal mucus obstructs the airways and glands, leading to the characteristic signs and symptoms of CF.