Twenty-five years ago, the median age of survival for someone with cystic fibrosis (CF) was about 30. Today, someone who has this rare, life-shortening genetic disease can look forward to a median survival age of 61. What has made the difference? Medical research.
“It is not lost on us how much CF (treatment) has advanced,” said Tara Kent, mother of two children with CF who received treatment through clinical trials at Children’s Hospital Colorado. These clinical trials led to the recent FDA approval of the drug called ALYFTREK.
In 2012, people with cystic fibrosis (CF) celebrated when the FDA approved ivacaftor, the first drug designed to target the defective protein that causes the disease. (This protein is called the cystic fibrosis transmembrane conductance regulator or CFTR.)
“The CFTR modulator is a medication that helps the CF protein work better in people with CF,” said Jordana Hoppe, MD, a pediatric pulmonologist at Children’s Hospital Colorado. She has been one of the pulmonologists caring for the Kent children since they were infants and was a lead principal investigator for the pediatric ALYFTREK trials. The Colorado Clinical and Translational Sciences Institute (CCTSI) provided the expert research nurses and the pediatric Clinical Translational Research Center where this CF trial took place. Indeed, all CF trials over the past 15 years have relied on these CCTSI resources and services.
Research expands treatment reach
Through research, these CFTR modulators continue to evolve to be more convenient in dosing and to be a treatment option for the vast majority of children with cystic fibrosis. When ivacaftor was approved, only 4% of individuals with CF had genotypes that qualified them to receive the drug. Today, 90% of all people with CF can take a CFTR modulator.
“The new modulator will be given only once a day where all prior modulators were dosed twice a day,” said Hoppe, who is also associate professor of Pediatrics and Pulmonary Medicine at the University of Colorado School of Medicine. “There are benefits, because it is not quite as simple as just taking the pills. For it (the drug) to be absorbed, it needs to be taken with a high-fat meal and pancreatic enzymes.”
She explained that with once-a-day dosing, families have more flexibility in terms of what works best for their schedule and their child’s eating habits. Moreover, she said the new CFTR modulator has evolved. “The new medication is also thought to help the CF protein work a little bit better than in Trikafta (the tradename of elexacaftor-tezacaftor-ivacaftor)."
Cohen Kent, age 11, has participated in two trials with Hoppe, and his little sister Harper, age 8, has participated in one. Though the Kent family moved to Texas several years ago, Kent said to Hoppe, "If ever there is a clinical trial, please always keep us in mind."
Both children participated in the ALYFTREK trial, so every month the Kents would travel from Texas to Children's Colorado for treatment. They consider Children's Colorado, Hoppe, and the whole care team like a family.
'We have to keep fighting'
Now that the drug has been approved by the FDA, Kent says she feels a sense of pride, knowing that her children’s participation has made a difference in the approval of the improved CFTR modulator, which will ultimately help more children with CF.
“We stay involved because 10% don’t have a CFTR modulator. We have to keep fighting until everyone else has an option to take their miracle drug,” Kent said.
Hoppe noted that unfortunately, there are some people with CF who are not eligible to take a CFTR modulator because they do not make the CF protein. She added, “…additional clinical trials are being done in adults, looking at RNA/DNA genetic based therapies…. There could be a genotype agnostic treatment in the future.”
For Kent and her family, now that ALYFTREK is approved, her children’s treatment will essentially be the same as it was on the clinical trial. “We feel very, very blessed to live in the U.S. where these trials are an option and in a medical community that is so advanced.”
Photo at top: Jordana Hoppe, MD, stands with Cohen Kent, left, and Harper Kent, right.
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