The Genetics of CF

What is cystic fibrosis (CF)?

CF is a genetic disease—that means you inherit it from your parents. Before you are born, genes determine many things, like hair and eye color, and if you will have diseases such as CF. You inherit the genes that cause CF from your parents. There is no cure for CF.

Parents pass mutations that may cause CF to children through genes

Everyone gets 2 copies of the CF gene—one from Dad and one from Mom. If both copies have a mutation (a change in the gene) that causes CF, then you are born with CF.

A “carrier” has one normal CF gene and one CF gene with a mutation, but does not have CF.

GeneticsInheritanceGraphic

Purple=normal CF gene; green=mutated CF gene.

The CF gene tells your body how to make CFTR* proteins.

*CFTR=cystic fibrosis transmembrane conductance regulator.

What is KALYDECO® (ivacaftor)?

KALYDECO is a prescription medicine used for the treatment of cystic fibrosis (CF) in patients age 2 years and older who have one of the following mutations in their CF gene: G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N, or S549R.

KALYDECO is used for the treatment of CF in patients age 2 years and older who have an R117H mutation in their CF gene.

KALYDECO is not for use in people with CF due to other mutations in the CF gene. KALYDECO is not effective in patients with CF with two copies of the F508del mutation (F508del/F508del) in the CF gene.

It is not known if KALYDECO is safe and effective in children under 2 years of age.

Important Safety Information

Who should not take KALYDECO?

Do not take KALYDECO if you take certain medicines or herbal supplements such as: the antibiotics rifampin (Rifamate®, Rifater®) or rifabutin (Mycobutin®); seizure medications such as phenobarbital, carbamazepine (Tegretol®, Carbatrol®, Equetro®) or phenytoin (Dilantin®, Phenytek®); or St. John’s wort.

Talk to your doctor before taking KALYDECO if you take any of these medicines or supplements.