Introduction
The fixed-dose combination of lumacaftor / ivacaftor (trade name: Orkambi) has been approved in Germany since February 2018 for the treatment of cystic fibrosis in children between the ages of 6 and 11. As of January 2019, it can now also be given to children between the ages of 2 and 5. This medication is an option if there's a certain mutation (F508del) in a gene known as the CFTR (cystic fibrosis transmembrane conductance regulator) gene.
Cystic fibrosis is a genetic metabolic disease. It is caused by a defect in a gene called the CFTR (cystic fibrosis transmembrane conductance regulator) gene. This regulator influences the balance of salt and water in the mucus-producing gland cells, for example in the pancreas, bronchi and small intestine. The defect makes the mucus very thick and sticky. In the lungs, this thick mucus can’t be coughed up, which makes it hard to breathe and may cause a chronic cough. Bacteria can also collect in the mucus, repeatedly causing respiratory infections. Thick and sticky digestive juices damage the and reduce the body’s absorption of important nutrients in the bowel, increasing the risk of malnutrition and being underweight. The symptoms of cystic fibrosis already appear in children.
There is no cure for cystic fibrosis. The fixed-dose combination of lumacaftor / ivacaftor aims to improve the function of the CFTR, so that the mucus becomes less thick and sticky, and the symptoms improve.