Lumacaftor and Ivacaftor (Orkambi) for Cystic Fibrosis Homozygous for the F508del CFTR mutation in patients aged 2-5 years old
Cystic fibrosis is an inherited disease that has severe effects on the lungs and the digestive system. It affects the cells that produce mucus and digestive juices. In cystic fibrosis, the secretions become thick and cause blockage within the tissues and organs (mostly within the lungs). Build-up of thick and sticky secretions in the lungs causes inflammation and long-term infection. In the gut, blockage of the tubes from the pancreas slows down the digestion of food and causes poor growth. People with cystic fibrosis are also at a higher risk of developing a number of related conditions such as diabetes, thin, weakened bones (osteoporosis) and liver problems, leading to a poor quality of life.
Lumacaftor and ivacaftor (Orkambi) is a medicine used to treat cystic fibrosis in patients aged 2 to 5 years who have a genetic mutation called the F508del mutation. This mutation affects the gene for a protein called cystic fibrosis transmembrane conductance regulator (CFTR) which is involved in regulating the production of mucus and digestive juices. Orkambi is used in patients who have inherited the mutation from both parents and therefore have the mutation in both copies of the CFTR gene. Orkambi is taken orally as tablets twice a day. It offers a new treatment option for patients with cystic fibrosis with the advantage of targeting the actual disease process rather than just the symptoms.