For much of his young life, 8-year-old James Cargal was downing about 50 pills a day and strapping on a vest and vaporizer for 30 minutes to an hour every morning and night — which made it look like he was preparing to snorkel instead of trying to clear his lungs.
The east Cobb baseball player has a rare form of cystic fibrosis, a genetic disease caused by a defective gene that leads to breathing and digestive issues. James is now taking only three pills a day and depending less on medical devices to breathe with a new drug to treat his particular variant, or mutation, of the inherited condition.
“Now it’s like I can stay in the sun forever,” said the very active young athlete and rising third grader. Before the new drug, “I had to stop playing outside with my friends when my mom called me in to do a treatment.”
This involved what he referred to as a “shake-shake” — the inflatable vest that vibrates to help loosen and clear mucus from his lungs — with a “fishy mask” nebulizer he used twice a day. “I hated it.”
Credit: Alexia Hernández Cargal
Credit: Alexia Hernández Cargal
James, one of 130 people in the world who have a particular rare variant of cystic fibrosis, was among nine patients at Children’s Healthcare of Atlanta who participated in the worldwide clinical trials that led to the U.S. Food and Drug Administration approving Alyftrek in December.
Alyftrek is the latest of five modulator drugs on the market that correct the malfunctioning protein made by the cystic fibrosis gene. Cystic fibrosis occurs when the body fails to make or doesn’t correctly create the cystic fibrosis protein that regulates the balance and flow of salt and water in the lungs and other organs, according to the Cystic Fibrosis Foundation.
Everyone has two copies of the cystic fibrosis gene, but mutations in both copies cause the disease, reports the CF Foundation, a nonprofit that funds cystic fibrosis research and drug development. The disease makes fluids and mucus in the body thick and sticky, causes lung infections and limits breathing. Children with cystic fibrosis also have digestive problems that prevent their bodies from breaking down and absorbing food, leading to inadequate nutrition and growth.
The clinical trials at Children’s and across the globe showed that the new drug worked as well as the most similar medication on the market, Trikafta, which the FDA approved in 2019 for a list of rare mutations that continues to grow.
Patients with cystic fibrosis who aren’t able to tolerate Trikafta well may be eligible for Alyftrek, according to Dr. Rachel Linnemann, one of two Children’s pediatric pulmonologists who co-authored the studies that led to the drug’s approval.
Among Alyftrek’s advantages, patients only have to take medicine once a day instead of twice a day for Trikafta, which simplifies the treatment routine and makes it easier for patients to follow it, Linnemann said.
The clinical trials showed that Alyftrek was safe and well-tolerated by patients, resulting in mild or moderate harmful side effects similar to those with Trikafta, said Dr. Ajay Kasi, another pediatric pulmonologist at Children’s who co-authored an Alyftrek study. Side effects included a mild increase in liver inflammation, he said. Both medications come with an FDA warning about the risk of liver injury and liver failure.
Credit: Alexia Hernández Cargal
Credit: Alexia Hernández Cargal
James never experienced any side effects from Trikafta or Alyftrek, according to his mom, Alexia. She and her husband, Derrick, are both carriers of the disease and have sinus issues but no further complications. Based on their experience with James, the couple had genetic testing to ensure they didn’t pass along the disease to their other two children, though their younger daughter also is a carrier.
James was 1 month old when a sweat chloride test that measures the amount of chloride or salt in the body’s sweat revealed he had the disease. He qualified for Trikafta on his 6th birthday and for Alyftrek six months later, Derrick said.
Before that, James wasn’t eligible for any medicine, so the family stayed inside during cold and flu season to avoid exposure to illnesses. Alexia said the disease, at that point, felt like “a ticking time bomb,” and all the family could manage was palliative care for James, providing symptom relief for the chronic condition.
The biggest changes the family noted in the past two years, since James began using Alyftrek as part of the clinical trials, were that his pancreas started working, resulting in fewer daily pills, and he had fewer illnesses. James also recovered faster from illnesses, she said.
Although James never had to be hospitalized, Alexia said the family was always on high alert, even for small signs of illness such as sniffles. She recalled, when James was born, there were no options for battling his combination of cystic fibrosis mutations. “It’s been a pretty amazing experience in such a short time,” she said of the clinical trials.
“I didn’t think James would be so young and something would work so well for him. Trials usually take a while to have positive results.”
James, too, is aware he could have died from his disease before he qualified for the latest drugs. “It was really, really scary,” he said. “If I didn’t take my medicine or wear the vest a lot, I could feel sick,” he said. Now he and his family are much more confident in his chance of survival.
“I feel like I have a regular life,” he said.
So what are his prospects for the future? Nothing less than Major League Baseball, he said. “I want to be the first guy to be in the MLB with cystic fibrosis.”
Roni Robbins has been a journalist for 37 years. This is her second stint as a freelance reporter for the AJC. She also freelances for Medscape, where she was an editor. Her writing has appeared in WebMD, HuffPost, Forbes, NY Daily News, BioPharma Dive, MNN, Adweek, Healthline and others. She’s also the author of the award-winning “Hands of Gold: One Man’s Quest to Find the Silver Lining in Misfortune.”
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