Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies are designed to correct the malfunctioning protein made by the CFTR gene. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations. There are four CFTR modulators for people with certain CFTR mutations:
- Kalydeco® (ivacaftor)
- Orkambi® (lumacaftor/ivacaftor)
- Symdeko® (tezacaftor/ivacaftor)
- Trikafta® (elexacaftor/tezacaftor/ivacaftor)
More potential CFTR modulators are in development to address the underlying cause of the disease in people with other CF mutations.
The CFTR protein regulates the proper flow of water and chloride in and out of cells lining the lungs and other organs. In people with CF, mutations in the CFTR gene result in either a defective protein being produced or no protein at all. This leads to the buildup of thick, sticky mucus, which can lead to infections in the lungs and damage to the pancreas. It can also lead to problems in other parts of the body.
The following video shows what it looks like when the CFTR protein functions normally in the lungs and what happens when the protein doesn't work.
CFTR modulators have been approved by the U.S. Food and Drug Administration (FDA) for people with the specific CF mutations. The first step in knowing whether you can take these drugs is to know your CF mutations. If you do not know your mutations, specialized genetic tests are available to identify your mutations. The Cystic Fibrosis Foundation's Mutation Analysis Program offers free genetic testing for people with CF who have unknown mutations. If you are interested in enrolling, ask your CF care team.