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  • {♫Intro♫}

  • 30 years and two months agoon September

  • 8, 1989—researchers published three papers

  • describing the gene responsible for cystic

  • fibrosis.

  • It was a huge breakthrough, and one they hoped would lead to a reliable treatment in no time.

  • Well, it wasn't “no time”, but the discovery has finally led to a drug that dramatically

  • improves the lives of most people with cystic fibrosis.

  • A new three-drug combination called Trikafta was unveiled last week in a pair of papers

  • in The Lancet and The New England Journal of Medicine.

  • And it's already being called a “game-changerby medical professionals who don't use that

  • kind of language lightly.

  • In fact, it looks so promising that the US Food and Drug Administration fast-tracked

  • its approval.

  • And that's all wonderful news for the more than 70 thousand people worldwide that live

  • with the disorder today.

  • Though, the steep cost could prevent some of them from actually receiving it.

  • Back in the first half of the 20th century, when doctors first described and named cystic

  • fibrosis, the cause of the lung and digestive disorder was a mystery.

  • They knew that children with it had trouble breathing due to unusually thick mucus in

  • their lungs.

  • Thick mucus also made them prone to lung infections and prevented them from breaking down and

  • absorbing nutrients properly...

  • All of which meant they often died before reaching their teen years.

  • And though we've found ways of reducing the effects of these symptoms, people with

  • CF still have a life expectancy in their forties.

  • So in 1989, when researchers found the gene responsible, it was a pretty big deal.

  • They called the gene the cystic fibrosis transmembrane conductance regulator or CFTR gene, and it

  • codes for a protein that normally allows chloride ions to move in and out of cells.

  • Mutations to this gene make it so the CFTR protein doesn't work, can't find its way

  • to the cell membrane to do its job, or doesn't get made at all.

  • And that explains the thick mucus.

  • Chloride normally attracts water, so when those ions don't get into the mucus, it

  • gets thicker and stickier.

  • Thicker mucus in the lungs blocks airflow.

  • And its stickiness catches and holds onto nasty stuff like bacteria, making people prone

  • to lung infections which damage the lungs over time.

  • Meanwhile, in the pancreas, thick mucus blocks digestive enzymes from making their way to

  • the intestines, so the body has a hard time absorbing food and nutrients.

  • Doctors thought the discovery of the CFTR protein would somewhat quickly lead to a general

  • treatment for cystic fibrosis.

  • After all, they now knew the problem.

  • So all they needed were drugs that fix that problem, like ones get the protein working

  • properly again.

  • But it turns out there are more than seventeen hundred mutations to the CFTR gene that can

  • cause cystic fibrosis.

  • So even though doctors did find drugs that helped fix the protein, they only worked for

  • specific mutationsand none of them seemed to be effective for the most common one.

  • That's a mutation known as F508del, which causes the CFTR protein to fold wrong.

  • The cell then sees the misfolded proteins as trash and gets rid of them.

  • But this new treatment does work for F508del, and that's what makes it such a huge deal.

  • Two of the drugs get the proteins to the cell surface before they're destroyed, and the

  • third helps correct the folding so they pump chloride properly.

  • Based on the two clinical trial results published last week, Trikafta is expected to dramatically

  • improve lung function for almost 90% of people with CF.

  • Which is great.

  • It's not a cure, but improving lung function made a /big/ difference to the people who

  • took it.

  • They reported a much higher quality of life than those who received a placebo.

  • Doctors hope the drug will work so well that their patients can ease up on the lengthy

  • daily therapies they do now to alleviate symptoms.

  • And reducing the number and severity of lung infections could mean people with CF live

  • longer, especially if the drug is eventually approved for younger children.

  • Right now, though, it's only for people over the age of 12.

  • And the treatment isn't perfect for other reasons.

  • Like, because the drugs correct the specific issue caused by the F508del mutation, the

  • drug combo won't work for people who don't have it.

  • And, interestingly, that tends to mean people of color as their disorders are more likely

  • to involve other, rarer mutations.

  • Trikafta is also super expensive.

  • We're talking $311,000 US dollars per year, which obviously, is a lot to pay, especially

  • if you have to pay it for decades.

  • And it probably shouldn't cost that much.

  • Economic review panels have previously slammed Vertex, the company that makes Trikafta, for

  • overpricing their CF drugs by up to seventy-seven percent.

  • So, Trikafta has the power to change thousands of people's livesbut whether it will

  • depends mostly on insurance companies.

  • And ultimately, the goal is to find something that works for everyonelike delivering

  • bits of RNA directly to lung cells so they produce the right protein in the first place.

  • While Trikafta is a fantastic step in the right direction that many doctors are legitimately

  • stoked about, researchers working on cystic fibrosis say they're going to keep at it

  • until they find a universal treatmentor, even better, a universal cure.

  • Thanks for watching this episode of SciShow News, produced by Complexly.

  • And we here at Complexly have another bit of news to share—a new[ish] channel!

  • About two months ago, we launched Ours Poetica, which is a co-production between Complexly,

  • The Poetry Foundation, and poet Paige Lewis.

  • Ours Poetica brings you a new poem three times a week, read by poets, writers, artists, and

  • sometimes unexpected, yet familiar, voiceslike ME!

  • I chose The Raven by Edgar Alan Poe because it's not as creepy as it seems.

  • It's really this sad, scary, beautiful ode to grief that really resonates with me.

  • So yeah, you can watch it by clicking the link in the description.

  • And while you're there, be sure to check out all the other wonderful poems!

  • {♫Outro♫}

{♫Intro♫}

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