Ask the Doctors by Eve Glazier, M.D. and Elizabeth Ko, M.D

New Drug Treatment Brings Hope for Those With Cystic Fibrosis

Dear Doctor: Our godson has cystic fibrosis, and seeing him struggle these past eight years has been hard. Is the new drug Trikafta we’ve been reading about really as good as people are saying?

Dear Reader: Yes, it appears that the new therapy you’re referring to is indeed a game-changer in the treatment of cystic fibrosis, or CF. Trikafta is a combination of three drugs, which target the cause of cystic fibrosis at the cellular level. In fact, the results of clinical trials were so promising, the Food and Drug Administration approved the treatment five months ahead of its deadline. The agency announced its decision on Oct. 21 and said that the new drug regimen is expected to help up to 90% of those living with the disease.

Cystic fibrosis is a rare and life-threatening disease in which a gene mutation causes the proteins found in mucus, sweat, tears, saliva and digestive juices to malfunction. Instead of remaining thin and slippery, the faulty gene causes these bodily secretions to become abnormally thick and sticky. The resulting mucus collects in the lungs and various digestive organs. This causes a dangerous buildup of mucus in the lungs, which makes it difficult to breathe and to get adequate oxygen.

People with CF are particularly vulnerable to lung infections, and they face eventual respiratory failure. Treatment thus far has focused on various methods of keeping the lungs clear. This includes the use of mucus-thinning and anti-inflammatory drugs, and physical interventions, such as vibrating vests to loosen mucus, which is then coughed up.

The disease also interferes with digestion, and it causes problems in the reproductive system. Your godson is one of about 30,000 people in the United States, and an estimated 75,000 people worldwide, living with the disease.

Although references to cystic fibrosis date back to the Middle Ages, it wasn’t until 1938 that cystic fibrosis was formally described as a disease. It took another 51 years for researchers to identify the specific gene mutation that causes it.

Three decades later, Trikafta represents the first major breakthrough in cystic fibrosis treatment. Patients in clinical trials saw dramatic improvements in lung function. At least one woman, who previously struggled to walk a short distance, celebrated by taking part in a 5K run. The drug, which is approved for patients 12 years and older, can cause potentially serious side effects, including liver problems and cataracts. Less serious side effects include headache, diarrhea, rash and stomach problems. Another potential challenge is the cost of the drug, which runs about $311,000 per year. And because cystic fibrosis can be caused by several mutations, some of them rare, the drug will not work for everyone.

Still, this new therapy is a cause for hope. Fifty years ago, it was rare for someone diagnosed with cystic fibrosis to live into their teens. Due to advances in chest physiotherapy to clear mucus from the lungs, cystic fibrosis patients typically now live into their 30s and 40s. With this latest breakthrough, the hope is that cystic fibrosis will move from a fatal disease to a chronic and manageable condition.

(Send your questions to askthedoctors@mednet.ucla.edu, or write: Ask the Doctors, c/o UCLA Health Sciences Media Relations, 10880 Wilshire Blvd., Suite 1450, Los Angeles, CA, 90024. Owing to the volume of mail, personal replies cannot be provided.)