Lumacaftor/ivacaftor (Orkambi)

Drug targets the cause of cystic fibrosis in people who have two copies of a specific mutation.

Orkambi (lumacaftor 200 mg/ivacaftor 125 mg) was approved for cystic fibrosis patients 12 years and older with the F508del mutation.

The mutation causes an abnormal protein to be produced, disrupting how water and chloride are transported through the body.

Inheriting one copy of the mutation from each parent is the leading cause of cystic fibrosis.

Patients achieve improved lung function compared with patients who take placebo.

A cystic fibrosis mutation test should be used to detect whether the F508del mutation is present on both alleles of the CFTR gene.

Adverse events include: shortness of breath, upper respiratory tract infection, nausea, diarrhea, rash, in women increased menstrual abnormalities, such as increased bleeding.

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