A case report about a 10-year-old boy suggests that Vertex Pharmaceuticals‘ Kalydeco (ivacaftor) can restore the function of the pancreas and the production of pancreatic enzymes in children with cystic fibrosis (CF), leading to a reduction or discontinuation of pancreatic enzyme replacement therapy (PERT).
The case report, “Time for a gut check: Pancreatic sufficiency resulting from CFTR modulator use,” was published in the journal Pediatric Pulmonology.
CF is a genetic disease caused by mutations in the gene that holds the instructions to produce the cystic fibrosis transmembrane conductance regulator (CFTR), a protein that transports salts in and out of cells. A faulty salt transport causes the build-up of thick mucus in different organs, affecting their function, including the lungs and pancreas.
Up to 90% of CF patients have to take PERT before every meal because their pancreas does not produce enough digestive enzymes.
CFTR modulators, such as Kalydeco, improve the function of the CFTR protein, and restore the transport of salts in cells. Recent studies have suggested these therapies also could lead to improvements in pancreatic function.
Now, a team led by researchers at the University of North Carolina at Chapel Hill reported the case of a 10-year-old boy who stopped taking PERT after four years of treatment with Kalydeco, because he reached a normal pancreatic function.
The patient started taking PERT in his infancy, when he developed problems to gain weight, and had excessive amounts of fats in the stool and flatulence. The treatment helped him gain weight and reduced the gastrointestinal symptoms. At age 6 he started taking Kalydeco.
The boy went to the hospital emergency room at age 10 because he had intermittent pain in his abdomen that got worse when he breathed deeply or ate.
The lab exams showed excessive amounts of two pancreatic enzymes, serum lipase and amylase. Additionally, the boy’s pancreas was inflamed, a condition called pancreatitis.
After discussing the results with the patient’s parents, doctors decided to reduce PERT doses gradually. A month after the visit to the emergency room, the patient stopped taking PERT and maintained normal pancreatic function, had no pain in the abdomen, and gained some weight.
Previous case reports showed that treatment with Kalydeco lessened the need for PERT. “However, the case presented here represents the first known case report of complete recovery of pancreatic function in a patient prescribed a CFTR modulator,” the researchers wrote.
The team believes that similar results will become more common as CFTR modulators are approved for younger patients.
“The young age of this patient when he began [Kalydeco] therapy almost certainly contributed to his ability to restore some pancreatic function,” the team noted, emphasizing that “clinicians should consider checking pancreatic function in patients who are stable on ivacaftor [Kalydeco] to determine if PERT is still required.”