New Cystic Fibrosis Treatment a “Game-Changer” | SciShow News


{♫Intro♫} 30 years and two months ago—on 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-changer”
by 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 mutations—and 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 lives—but whether it will depends mostly on insurance companies. And ultimately, the goal is to find something
that works for everyone—like 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 treatment—or,
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, voices…
like 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♫}

, , , , , , , , , , , ,

About Author

47 Comments
  1. Richard Renes

    I am always a bit reserved about treating and 'curing' genetic defects. I know… we're talking about human lives… but now we are also talking about human lives that live long enough to have sex and propagate this very defect… Which means more money for the drug manufacturors… I'd say quite an evil plan.

  2. Duwalage Pasindu Chamodya Gunaratna

    gene therapy would of worked better

  3. Novali

    as a successfully treated sufferer of eosinophilic asthma, this made me incredibly happy for my fellow chronic illness warriors. We need to keep fighting, against our conditions and also for affordable access to medication!

  4. Robert Whitley

    It only treats it,there is no cure.Drug companies will never cure anything ever again,it's just not profitable enough for them.They want you on their drugs for life.

  5. TalenGryphon

    Who else is watching this and hoping this can help Stephi Lee?

  6. Kendi1081

    Thanks for covering this! I have CF, and while the 311,000 sticker price is what shocks everyone, no one is paying that. Vertex does have incredible patient support and co-pay assistance, and most people are paying about $15 a month, or even less. With orphan diseases like this, a universal system doesn't work because there aren't enough patients to justify the cost. The UK just finally approved Orkambi, which has been out since 2015 in the US. I have my appointment monday, and I'm so excited to see what this drug does for me and the rest of the CF community!!

  7. Grant Goldberg

    It costs an average of $3 billion to bring a drug to market because of all that government regulation you liberals seem to love and only 1 in 5,000 makes it to market so please save your moral indignation about the cost to yourself. The free market that you liberals have such contempt has every right to charge as much as they want.

  8. Sean

    CF patient: omg an effective cure to help me live, thank you so much
    Big pharma: $300,000 thx

  9. Tammy Elizabeth

    Thank you big pharma: steep cost.
    311,000$ US per year. What is the company charging the EU or Canada? A different amount?

  10. Minecrat Silent Build

    so they find an almost cure and decided to charge more then the average person can afford thats government for you

  11. Pranav Ghandade

    It Increases effectiveness in humid countries by 0.05 and also it has higher infectivity than lethality.

  12. jlp

    us government: why would we use tax money to ensure the lives of our own people?? lol thats dumb! anyway jerred hows the new super yacht?

  13. Saumitra Chakravarty

    Same old side-effect of profit motive when it comes to healthcare, education, environment or pretty much anything needed for sustainable future.

  14. For The Wynne

    Bernie's socialism sense is twitching

  15. Fake Sulfate

    CF being a genetic disorder means that people living longer under his treatment will have more children on average and thus pass on the disorder more. Won’t this expensive treatment just indirectly cause more people to have to disorder and suffer from it because they can’t afford treatment than helping the few who can afford it?

  16. sirgaz

    Yeh that looks like a high price but isn't that what you have insurance for? Won't CF patients be paying like (hand waves) 5 grand or something then their insurance should pick up the rest of the cost?

  17. CG Account

    I think the price problem relates to the old CEO's having psychopathic tendencies issue. They don't actually care about people. Just their own personal profit.

  18. Not Dave

    Depressing isn't it. Children are suffering so because pharmaceutical companies and medical insurance companies want more and more money. Doesn't matter these companies already make disgusting amounts of money there's always more to be made, sick children be damned. This is the reality of unchecked capitalism, greed trumps everything.

  19. Adam Morgan

    Scishow, I have Cystic Fibrosis (34) and have been on Trikafta (Triple Therapy Drug, Elexacaftor, Ivacaftor & Texacaftor) and the results after just 4 weeks are absolutely amazing. I'm in the UK on managed access but hopefully soon it will be available for all eligible folk.

    This drug doesn't only improve the lungs but also other areas such as the gut, joints, appetite, general wellbeing and more. Cystic Fibrosis isn't only a lung condition but a multi-organ condition that affects almost all areas of the body. Trikafta does improve lung function, I went from 30% at the start to 57% 4 weeks later (normal range is 80-120%). Here's the thing though, lung function isn't the most important thing, it's a good indicator of where your lung health is but that's all it is, there are more important things like CRP levels (infection levels, normal range is 0-6) of which mine was sat around 50 and around 100 on jnfection requiring IVs. Lower CRP, less chest bleeds and less chest infections means less lung damage. I'm no longer needing to be listed for lung transplant.

    One thing Trikafta (and other such meds) can't do is repair the damage already caused but it does open up the airways in your lungs by helping to thin out and remove the sputum blocking the airways, I removed 0.5kgs of sputum in a week and over 250 plugs.

    This drug is a real game changer.

  20. Semirotta

    'Muricunts have this issue where they eagerly try to gain more wealth and power. No matter how it affects others. This is seen extremely well in the pharmacy companies.

  21. asdfasdf adfasdf

    Save Stephi Lee! 🙂

  22. Adam Nelson

    Ahhhh. Only Hank. <3

  23. A Duck

    Hey cystic fibrosis sufferers reading this. How's it going? Not great I guess. So, $311k to live like a normal person eh? How 'bout that. So, now might be a good time to consider voting in your next election for someone who considers basic health to be an equally basic human right, not a paid for privilege. Just a thought.

    Oh boy, can't wait for the banshee shrieks howling "communist scum!". Although I would hope viewers of this channel, a channel about science and education, wouldn't be as blisteringly demented as your typical anti-socialism pundit. So apologies to any Americans reading who feel I may have unfairly generalized you to your absolute lowest of common denominators. Because let's be real here, they are your lowest.

  24. luuk341

    This is the stuff we should be seeing on news paper front pages! Great news!

  25. Meoshi

    Well, we found what to spend the billionaire's wealth on.

  26. Arthur Vandaley

    Getting depressed by great news. The timing on this.
    She probably should not have gotten new lungs.

  27. El Fixo

    Too late my dad already died from cystic fibrosis.

  28. Janita van der Kuur

    I really like this upload.

  29. Arthur Vandaley

    Another drug that only works on white and ritch people

  30. Casey Weimar

    Blaming the pharm companies for "high drug prices" is a scapegoat. The real issue is the insurance companies and the PBMs or pharmacy benefit managers. They are the ones who set the drug prices that insurance companies must pay

  31. Jo Mac

    Funk you big pharma

  32. Gustaw Knitter

    WOW! 1- for the first time I hear something on youtube, that I haven't read already in a professional journal abut. I'm a doctor so… I guess i should consider more time on updating my education.
    2- I'm a internal medicine doctor in Poland and I haven't had a patient with cystic fibrosis in all my life. Not causa it is rare. It is causa they mostly die so young, they don't get to the age at which I take take over prom podiatrists. If this is half as effective as in the video…

  33. al ravijn Balingit

    "noT A CURE"

  34. whoeveriam0iam14222

    3:21 burp

  35. Djay Hiryuu

    Drug market should be regulated ! and pharma chemistry and supply chain should be too

  36. Ivo Vinicius

    thank you sci show, you guys are always a source of great learning entertainment and, as i am a medical student in brazil, that will be useful (if the drug becomes cheaper), at least i hope
    thanks again

  37. AHOB Oktober

    smoking does not cause lung cancer. Look at the surgeon generals reports and all the proof that it is not in relation…
    All hail the american government, allowing industry cash to fund toxic work chemical medical research and oh lol tobacco.

  38. UZ

    Missing Claire Wineland at this moment

  39. kaleb Crossley

    Thanks for bringing awareness to cystic fibrosis I lost a childhood friend this year she was a beautiful girl 18 years old and a beautiful singer xx

  40. Soumitra Das

    Hahaha, I think the research team is led by an indian girl from my state…

  41. Hannah Moody

    So long as we maintain an economy the primary function of which is to make more money above all else, and not for the use value of the commodities being produced, we will continue to leave behind the most vulnerable and the most exploited in society. Capitalism must be abolished, and a new socialist system put in its place in order to finally resolve the plague of class society.

  42. Dex wickline

    How many other cf ppl use cannabis? Smoking it and mugwort helps build up resistance to asthma attacks sounds counterproductive but its the only thing keeping me eating haha 21 and 80 lbs

  43. Ryuu Ainaki

    A universal cure should be doable with CRISPR – just have it edit the mutated gene and replace it with the non-mutated version.

  44. zurfX

    Nugget er

  45. Karen Rasmussen

    Canada medical is only a small step above American medical. A large percentage of prescription drugs are not covered by Canada government medical.

  46. TheJumpingJill

    @thefreylife if you want a really scientific description of CF and trifecta to reference for people. Check this out

  47. Jo Luffman

    My mom lost a childhood friend when the girl was in her late teens or early 20s. Back in the 60s, survival rates were pretty abysmal.

    Every one of these steps is huge.

  48. Wiggy

    The companies who develop and produce these medications are VERY good at ensuring that almost everyone (in the US) who would benefit from these types of medications do indeed get them (>99% of them even).

    These medications are sold to countries with socialized healthcare systems at a discounted rate (as negotiated by a given nation’s government) in order to broaden distribution, with hopes of eventually reducing the cost.

    Even at a reduced cost, they’re still quite expensive. For example, a person with CF in the UK would be LESS likely to receive these medications than someone in the US.

    There is no perfect system. But, to be clear, the system that almost exclusively pays for these types of medical advances is contained within the United States.

Leave a Reply

Your email address will not be published. Required fields are marked *