Healing hope for Cystic Fibrosis patients

MARY REICHARD, HOST: It’s Thursday the 28th of November, 2019. Glad to have you along for the Thanksgiving edition of The World and Everything in It. Good morning, I’m Mary Reichard.

NICK EICHER, HOST: And I’m Nick Eicher. First up today: A breakthrough treatment.

Cystic Fibrosis, or CF, is a rare genetic disease that affects about 75,000 people worldwide. The disease leads to chronic lung infections and long-term damage.

REICHARD: And a short life. The life expectancy for someone with CF is about 37 years. But just last month, a new treatment hit the market. And it’s a game changer. WORLD Radio’s Anna Johansen has our story.

ANNA JOHANSEN, REPORTER: Every day, Jackie Miller has a routine.

MILLER: Oh yeah. Oh yeah. There’s definitely a time consuming regimen.

That regimen includes using a nebulizer two or three times a day. Handfuls of pills. Regular injections. Enzymes, antibiotics, insulin. A vibrating vest to help break up mucus in her lungs. If she gets a cold, she could end up in the hospital.

Jackie Miller has Cystic Fibrosis.

MILLER: It is a genetic disease that affects anywhere in the body that produces mucus, which turns out to be a lot of the body.

There’s a certain protein that’s in charge of getting salt through your cell membranes. If you have CF, you have a genetic mutation that botches that specific protein. It can’t do its job. Salt stays trapped inside the cell.

MILLER: And so it draws all the moisture into the cells. And because of that you get really thick and sticky mucus.

That thick and sticky mucus builds up and affects the liver, the kidneys, the intestines, the pancreas, and the lungs. It leads to lung infections, lung damage, and lung failure.

RAMSEY: It was a ghastly disease to be very honest with you.

That’s Bonnie Ramsey. She’s a pulmonologist and she’s spent a lot of her career figuring out ways to treat CF.

RAMSEY: How could you develop treatments that wouldn’t, maybe not correct the underlying defect, but could help with the secondary consequences. So that even though we didn’t have a quote cure, the quality and duration of life was improving steadily.

But instead of just treating the symptoms, researchers wanted to fix the root of the problem—the actual botched protein. And that is where Trikafta comes in.

O’SULLIVAN: So Trikafta is a combination of three medications.

That’s Brian O’Sullivan. He’s a pediatric pulmonologist at Dartmouth.

O’SULLIVAN: Two of these medicines work on helping the protein fold properly.

He’s talking about the protein in charge of moving salt out of cells. O’Sullivan says that protein is like a gate in a fence. The cows in one pasture want to get to the other side, but the gate is broken. One medicine fixes the gate, another moves it into the right position. Then the third medication comes into play.

O’SULLIVAN: The third medicine is the WD40 of the cell.

It oils up the gate so it can swing wide open and let the cows through. Or, in this case, let the salt out of the cell.

It’s the first time researchers have tried combining all three pieces. They tested it in two clinical trials on more than 500 patients. Jackie Miller was one of them.

She took the medication for 30 days. It was a double blind study, so she didn’t know if she was getting the active drug or a placebo. But she could feel the difference almost instantly. And she knew she had the real thing.

MILLER: If I laugh really hard at anything, it just sends me into a coughing fit. So that was one thing that changed, that I noticed immediately is I was laughing and then I would just stop. So that was bizarre. And then, um, when I take a deep breath, I hear it and I feel crackles in my chest. So really early on with the drug, I would notice the crackles were not there. 

Brian O’Sullivan says the Trikafta trials were enormously successful.

O’SULLIVAN: Their breathing tests went up by 10 percent, which is a huge amount. Their need for hospitalization or added antibiotic therapy went down by about 70 percent compared to the group that didn’t get the Trikafta. So there was a huge improvement. 

Trikafta is expected to help 90 percent of people with CF. Researchers are still working to find a treatment for the other 10 percent. But this is a huge step forward.

Bonnie Ramsey has been part of the research effort for years. She recalls a moment early on in the process.

RAMSEY: And I looked at the data and I thought, this can’t be real. You can’t have this kind of change…I mean, it happens almost immediately. And I remember thinking…this will be life changing.

The FDA approved Trikafta in late October. Brian O’Sullivan says he’s already writing prescriptions for it.

But people who need Trikafta also need some really good insurance. Estimates put the cost of the drug somewhere north of $300,000 per year. But because not many people have the condition, not many will need the medication. O’Sullivan expects most health insurers will be willing to cover the cost.

And even with the steep price tag, Jackie Miller says it’s worth it. Before, she wouldn’t let herself think about the future. But now that’s changing.

MILLER: I feel like I’ve been given permission to think more about like if my kids ever have kids and I have a chance to be a grandma…So it’s just been a really, really sweet gift.

Reporting for WORLD Radio, I’m Anna Johansen.

(Photo/Masego Morulane, Getty Images)

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