According to a story from statnews.com, the approval of the new cystic fibrosis drug Trikafta has caused quite a buzz in this rare disease community. While this new drug offers an effective treatment option for many patients that previously had none, the fact remains that the treatment is still far from a cure and it still doesn’t work for everyone. With these concerns in mind, the Cystic Fibrosis Foundation recently issued an announcement of a new $500 million effort to support finding a cure and the development of a therapy for the small number of patients that still lack an effective option.
About Cystic Fibrosis
Cystic fibrosis is a type of genetic disorder which can have impacts throughout the body, but it is most characterized by the build up of abnormally thick, sticky mucus in the lungs. This mucus becomes a fertile breeding ground and habitat for potentially infectious bacteria. Many patients must take antibiotics for much of their lives. This disorder is caused by mutations of the CFTR gene. Symptoms of cystic fibrosis include progressive decline in lung function, lung and sinus infections, coughing up mucus, fatty stool, poor growth, infertility in males, clubbed digits, and digestive problems. Treatment includes antibiotics and medications or procedures intended to maintain lung function. Lung transplant is an option when lung function declines severely. Life expectancy ranges into the 40s and 50s with good care. To learn more about cystic fibrosis, click here.
Tying Up Loose Ends
There is definitely cause for celebration with the appearance of a new treatment, but, as the foundation’s Dr. Michael Boyle says, “It’s not the entire story.” Trikafta is expected to be effective for as much as 90 percent of the cystic fibrosis patient population. Therefore, the next goal should be the development of a disease-modifying treatment for the remaining ten percent with the rarest mutations.
The funding project has been dubbed Path to a Cure and will primarily be allocated towards clinical programs. Most of the patients that still can’t get help from the latest treatments have CFTR “nonsense” mutations that are not responsive to the modulator-style drugs that have been developed so far. Unfortunately, there isn’t much research on these rare mutations and they tend to appear more frequently in patients of Latin origin. Hopefully progress will be made quickly so that these remaining patients can get effective treatment.
