A recent article in the Washington Post tells the story of a newly-approved cystic fibrosis drug that represents thirty years of scientific work and dedication.
The defective gene that causes cystic fibrosis was discovered in 1989 by scientists who were able to decipher its basic biology.
The FDA approved the data presented by its developer, Vertex Pharmaceuticals, months before the agency’s scheduled deadline. The data has been published in two noted medical journals.
About the Cause of Cystic Fibrosis
Cystic fibrosis is a multiorgan disease that is caused by CFTR mutations that lead to misfolding and other defects.
Over seventeen thousand gene mutations can cause the malfunction. In the case of the more common mutation, the misfolded protein is unable to reach the target area in the cell.
The disease causes a buildup of thick mucus in various organs of the body causing damage to the patient’s digestive systems and lungs.
One way patients cope with the disease is by wearing vibrating vests for hours every day. The vests alleviate some of the mucus. The patients are also forced to cough sometimes for hours just to clear their lungs. By being diligent about these at-home remedies, the cystic fibrosis patients are at times able to avoid emergency hospital visits. With respect to medication, it appears that enzymes, vitamins, and antibiotics are helpful.
Life Expectancy
About thirty thousand people in the U.S. are affected by cystic fibrosis. Many doctors can remember when cystic fibrosis patients never reached age twenty. Now the average life expectancy is about forty-four years.
With the approval of Trikafta, the same doctors are hoping that the disease will be transformed into something similar to diabetes that they can manage through a drug regimen.
This would be especially beneficial if and when the drug is approved for babies and younger children. That would mean the children would be treated before any damage occurred.
Although older patients may benefit from Trikafta, the drug is not able to repair the damage that has already occurred in the lungs.
About Trikafta
Trikafta is a combination treatment that includes a drug that corrects the misfolded protein. The other two drugs activate the protein once it has been folded correctly and when it has reached the target area in the cell therapies.
As with other successful drugs, Trikafta took years to develop. Its developer, Vertex Pharmaceuticals of Boston, has developed three prior therapies.
The drug is approved for patients twelve years of age and older.
Cystic Fibrosis: The Trial
According to a report in the New England Journal of Medicine, a major trial was conducted involving 403 participants.
All subjects in the trial had at a minimum one copy of the common gene that was considered to be the root cause of cystic fibrosis.
Participants received either a placebo or Trikafta.
Interim results showed improvements in lung function and also decreases in hospitalization. Subjects reported an increase in their quality of life.
During the trial, patients continued their maintenance therapy by using the vibrating vest and continuing to cough to clear their lungs. In the future, trials will help to determine whether patients will be able to lessen their reliance on these regimens.
Research is also needed to help about ten percent of cystic fibrosis patients who have other mutations.
Drugs that have been developed for small groups of patients (orphan drugs) usually come with a high price tag. The annual cost of Trikafta is $311,000. Physicians and their patients are waiting to hear if insurance carriers will cover the drug.
