A new era in cystic fibrosis treatment

When Penn opened its Adult Cystic Fibrosis Program in the early 1990s, the life expectancy for a patient diagnosed with cystic fibrosis (CF) was their late 20s. Over the past 30 years, advances in screening and treatments have helped extend the average life expectancy and dramatically altered the therapeutic landscape for CF patients, who, until 2012, were all treated the same way.

illustration of lungs as a symbol of cystic fibrosis research

On October 21, the FDA approved the triple combination therapy, Trikafta, for patients 12 years and up with a type of genetic error called an F508del mutation—the most common CF mutation. Unlike the three previously approved therapies for CF, which targeted genetic mutations held by smaller segments of the CF population, the new therapy is designed to treat patients who have the F508del mutation, effectively extending a new form of therapy to about 90 percent of CF patients.

“It represents a major breakthrough for the CF community,” says Denis Hadjiliadis, director of Penn’s Adult Cystic Fibrosis program and an associate professor of medicine. “The emergence of effective therapies fuels our hope that early treatment will not only lead to fewer complications and delay the progression of lung disease, but will also give patients ... a longer life, and one that they may live to their full potential.”

Similar to Trikafta, the wave of previously approved therapies aims to improve the underlying cause of CF: a defective CF transmembrane conductance regulator (CFTR) gene. Every person has two copies of the CFTR gene—one inherited from each parent. Only people with mutations in both copies of the gene can develop CF. However, there are more than 2,000 different mutations in the CFTR gene that can cause CF, explains Gina Hong, an assistant professor of pulmonary medicine and a member of the Adult Cystic Fibrosis and Bronchiectasis treatment team.

Two studies, published in The New England Journal of Medicine and The Lancet in early November, found patients who received Trikafta, showed improvement in a key measure of lung capacity.

Read more at Penn Medicine News.