Cystic fibrosis (CF), a chronic and progressive genetic disease, is caused by a mutation in the CF transmembrane conductance regulator (CFTR) gene. It is characterized by thick and sticky mucus in organs that can include the lungs, pancreas, liver, intestines, sinuses, and reproductive organs, affecting their ability to work as intended.
Mucus accumulation in the lungs and airways, specifically, can make breathing difficult and also bacterial infections more likely.
The symptoms of CF and their severity vary according to the type of CFTR mutation that underlies the disease, as well as the patient’s age, the presence of secondary infections, and other comorbidities or conditions. Although CF has no cure, treatments can help to improve a patient’s quality of life and life expectancy.
CF life expectancy
According to the 2017 Cystic Fibrosis Foundation Patient Registry Data, patients in the U.S. born between 2013 and 2017 can expect to live into their mid-40s. But this estimate, placing such a patient’s life expectancy at 44 or older, does not take into account potential benefits of CF treatments continuing to enter the market.
Life expectancy for CF patients in Canada and the U.K. is similar, with patients living well into their 40s and beyond. Advancements in disease research have contributed to the steady increase in the median life expectancy, and children born in these countries with CF today have a completely different prognosis from those born 30 or more years ago.
According to the non-profit organization Cystic Fibrosis Worldwide, patients in developing countries continue to have much poorer life expectancies, with a lack of access to advanced therapies being one likely cause. For instance, this umbrella group for patient associations in 67 countries estimates that CF patients in India and El Salvador typically die in their teenage years. A list of patient associations (by country) with CFWW can be found here.
New and potential treatments
Treatment options for CF have greatly improved in recent decades. In addition to medications that provide symptomatic relief to patients and help clear infections, therapies that address the underlying causes of CF are available.
CFTR modulators are one example. The CFTR protein channels the movements of salts in and out of cells. This helps in the controlled movement of water in tissues and organs, which is necessary to maintain the normal viscosity of the mucus lining the organs. In CF, defects in the CFTR protein hinder this normal flow of salt and water, leading to the formation and accumulation of thick, sticky mucus. CFTR modulators help correct such defects.
There are three types of CFTR modulators, each addressing a different issue that causes the CFTR protein to malfunction. Correctors help the CFTR protein assume the correct shape to function as it should. Potentiators such as Kalydeco (ivacaftor) improve the salt and water flow through the membranes. Amplifiers help by increasing the concentration of CFTR protein on cell membranes.
Combination treatments with two types of CFTR modulators have also been developed. Orkambi (lumacaftor/ivacaftor) is a combination of an amplifier and a potentiator. Symdeko (tezacaftor/ivacaftor) combines the effects of a corrector and a potentiator. Vertex Pharmaceuticals is leading the development of this group of therapies, and other potential treatments.
A number of experimental treatments are being developed that may also improve life quality and life expectancy for people with CF. These include both single and combination treatments with CFTR modulators, enzymes to loosen the mucus and improve organ function, and inhaled antibiotics for improved delivery to the lungs.
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