In the last 4 years, Melissa Rich, a 28-year-old new mom with cystic fibrosis, got married, had a healthy baby and is living the life she never dreamed possible.
She attributes a big part of it to the new drug Kalydeco, which she has taken since 2012.
“Now I don’t worry about a decline in my health,” Melissa said. “ This drug has definitely changed my life.”
Kalydeco (Ivactor) is a prescription medicine used to treat CF patients ages 2 years and older who have 1 of 10 specific mutations in their CF gene.
While these mutations account for only 4 to 5 percent of those affected with CF, there’s hope for similar breakthrough drugs on the horizon.
The drug’s use began in a national research trial, in which Akron Children’s CF Center participated. Half the participants in the trial got Kalydeco and the other half received a placebo.
Because researchers saw significant improvement in disease symptoms, the trial was halted ahead of schedule.
“These are a new generation of targeted drugs that treat people with a certain genetic make-up,” said Joleen Viront, a genetic counselor with Akron Children’s CF Center. “Kalydeco is a breakthrough in CF therapy because it was the first drug to target CF at the molecular level.”
In CF patients, there’s a defect in the CFTR gene, which acts like a channel on the surface of cells that produce mucous, sweat, sweat, saliva, tears and digestive enzymes. These channels open and close to let salt and water move in and out of cells.
When the gene isn’t functioning normally, water in tissues doesn’t flow freely and mucous builds up in the lungs, pancreas and other organs, which leads to respiratory and digestive problems.
Breakthroughs in CF treatment
Kalydeco helps open the gates of the channel in the CF protein, increasing the balance of salt and water in the organs.
Christine Singh, a nurse practitioner with Akron Children’s Adult CF Clinic, has worked with patients since before the Kalydeco trial began in 2012. She has witnessed improved lung functions, nutrition, as well as fewer respiratory infections and hospital stays.
“I think Kalydeco has been a game-changer for these patients,” said Christine. “We now have 13 patients on the drug who have been taking it for 3 to 4 years and have a better preservation of their lung function with no major side effects.”
The best outcomes, according to Christine, has been seeing her adult patients avoid losing 1 percent of their lung function yearly and the increased hope for patients who start the drug at a younger age.
Christine points to another molecular drug, Orkambi, which was also part of a research trial at Akron Children’s. It is currently used by 22 patients, 12 years and older.
Orkambi targets patients with the more common CF mutation delta F508. With this drug, patients have experienced improvements in nutrition and disease stabilization, but not in lung function and respiratory issues.
Although these drugs aren’t a cure for CF, they have dramatically changed how we treat the disease.
“It needs to be in people’s minds that we are on the success train with CF research into these drugs,” said Dr. Titus Sheers, director of the Adult CF Clinic at Akron Children’s Hospital. “I now follow 2 CF patients in their 60s, and that’s one of the things that keeps me excited about the field.”
Right time, right place
Kalydeco came along at the right time for Melissa Rich. As she turned 18, her respiratory problems increased despite following her multiple therapy regimens. She was hospitalized 4 times in a year and had to go on steroids. As a result, she also gained 60 pounds.
Since taking Kalydeco, Melissa has only been hospitalized once, has lost the weight, married, and had her daughter, Gabriella, in January 2016. She hasn’t experienced any side effects with the drug.
“It was a bad time before my life changed,” said Melissa. “I didn’t know what it meant to maintain a healthy status before Kalydeco. I’m so glad to be out of trouble with this disease. I just hope more drugs are developed for my friends with CF.”
Melissa maintained a healthy pregnancy while keeping up with a multitude of therapies including aerosol treatments, a vibrating therapy vest, bronchodilator treatments and digestive enzymes. She has happily added breastfeeding and caring for an 8 month old to that list.
According to Dr. Sheers, Melissa epitomizes his hope for the ongoing fight in winning the war against this relentless disease, which affects 70,000 people worldwide.
He points to the fact that Vertex, the company that produces Kalydeco and Orkambi, is partnering with the Cystic Fibrosis Foundation and several research groups to target more CF mutations more effectively.
“We are helping CF patients to live not in spite of, but despite this disease,” said Dr. Sheers.