Eyes on the Prize: Progress in Cystic Fibrosis Research Amidst a Pandemic

Just over one year ago, COVID-19 exploded on news headlines — putting the world in a tizzy about what this new virus was, who was at risk and how to prevent its spread. Those with underlying respiratory conditions such as cystic fibrosis were cautioned to stay indoors and away from others. Top health officials feared that if these populations contracted the virus, they would have a greater chance of hospitalization or death. But as the world sheltered in place, UF Health physicians remained steadfast and focused on medical research advancements unrelated to the pandemic.

Jorge Lascano, M.D., director of UF Health’s adult cystic fibrosis program, and a team of clinicians have been at the forefront of identifying novel treatments for cystic fibrosis, or CF. CF, a genetic disease, affects a person’s organs, primarily the lungs, and creates a thick, sticky mucus in the airway and other ducts of different organs, leading to blockages, damage to and infections of these organs. Symptoms vary but often include persistent coughing and frequent lung infections that can require aggressive treatment.

At UF Health, Lascano has joined forces with Giuseppe “Joe” Morelli, M.D., and Julio Leey, M.D., to evaluate CF patients and how they respond to a medication that restores cystic fibrosis transmembrane conductance regulator, or CFTR, function — the main protein affected by this disease.

CFTR modifiers are a new group of medications that have been evolving for the past years. While they have proved to bring a great deal of improvement for CF patients ages 6-plus, they have also raised questions about their role with patients who have CF-related liver disease.

“We know the medication produces an increase in liver enzymes in some patients,” Lascano said. “The question becomes whether these patients had underlying CF-related liver disease prior to being placed on the medication.’’

Now, Lascano, Morelli and Leey are working with other CF-related programs across Florida to create a database of patients with CF in an effort to identify patterns that reveal who may be more susceptible to liver damage from the medication.

The goal is for all patients to benefit from the medication with no injury to the liver, Lascano explained. Patients who do not tolerate the medication at the regular dose may be advised by their physician to decrease the amount taken to half a dose or even a quarter of a dose.

And while CF patients may be hesitant about taking the medication, the potential benefits could outweigh the possible risks.

“The medication is changing the layout of CF,” Lascano said.

With this medication, Lascano has seen some CF patients with restored double-lung function, others removed from the lung transplant waitlist and hospitalization admission rates down by 80%. Currently, a national study is being conducted for children ages 2 to 6 years old, and Lascano is hopeful that the medication will eventually be approved for patients as young as newborns.

Another possible solution for CF? Gene therapy.

If inhaled gene therapy, a treatment that corrects a gene in a patient’s airway, proves successful, it could be a partial cure to fix the lung component of CF, thus removing the need for medication.

Until then, UF Health’s multidisciplinary team of pulmonologists, hepatologists, endocrinologists and other specialists continue to investigate novel therapies to help patients with CF breathe easier.