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

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♫}


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    Vertex pharmaceutical – Based in Boston. America really does have the best healthcare in the world…
    … if you can afford it.

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    Nicholas Leach

    Depends on the governments ability to regulate insurance companies? Who do you think puts the most pressure on pharmaceutical companies to lower prices?

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    Walter Bunn

    Ehh… I have CF.
    I watched my little sister die of the disease, and i think i might die the same way.

    These drugs are good, but calling them "Expensive" misrepresents the problem.
    The CF foundation is a charitable organization that has paid Billions to develop these drugs.
    Vertex's investment cost to research these drugs was almost zero, and that's before the CF foundation, one of the richest charitable organizations in the US, started giving them research grants to get this done.

    Ivacaftor and Lumicaftor are drugs that are left-over protein inhibitors that did not adequately prevent the spread of HIV.
    Their safety was already well understood due to their use in combating AIDS.
    The thing that wasn't known was whether they could be used to correct a problem like CF, and that literally just required doctors to get a hold of them.

    Charging $25,000.00 a month for these drugs is criminal.
    This is not an issue of health insurance gate keeping. I'm 100% certain it doesn't help, but the organization at fault for this is not the insurance industry.

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    Trikafta costs $311,000 per year … even with the 77% markup, still talking about $‭71,530‬ per year … that's insane. `The remarkable speed of the company’s cystic fibrosis triplet approval will not distract attention from its price.`

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    Gerard Trigo

    Use DNA test to identify the defective gene sequence in embryos, Use CRSPR to cut the bad gene out and replace it with good gene sequence.

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    Lee Lu

    I follow Mary @TheFreyLife across social media and learned about this new med she's been lucky to be able to try! #CF

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    Kenneth Kustren

    " Its not a cure…. "
    There have been exactly ZERO human diseases cured.
    Almost there on one though…
    Idiocy in Scientism.

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    Sean Not-telling

    Too late for one friend but not too late for the other. But the cost is like every other pharmaceutical. Outrageous.

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    Arcaneus Umbra

    This is amazing news! But I know I will probably never have the chance to get this drug because there's no way I will ever be able to afford that. And I'll probably not even qualify for the drug in the first place. But this is a huge step forward on the path for a cure, and I hope this drug makes the other CF patients who do get it live happier, healthier lives with some semblance of living normally.

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    Pontus Welin

    The US is a cool place in many ways, but the price of medical care is of the most insanely stupid things. How are people ok with this? Letting people DIE because they don’t have enough money or the right insurance. THAT IS SO STUPID! It makes me so angry!

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    I wish the US would regulate the pharma industry. The high cost is likely due to the massive research spending required to fund clinical trials and drug development combined with the small patient population. Its no small task to get something like this to market and could cost a company 1 billion dollars in failed attempts and research ideas. Regardless, allowing any price to be set is careless and downright heartbreaking for patients who could benefit from this medication. Government price negotiations need to be apart of drug approval process in the states as it is for most of the world. A proper health economic model investigated by non-profit agencies or government bodies would regulate this price effectively. There does need to be some incentive for companies to even fund the development of these medications but it should have its limits.

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    Nefera Cronia

    I hope my friend has access to this new drug. I get that the price is stupid high in America but hopefully Canada's benefits will be way better for her.

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    Junior Mynos

    Scientist develops breakthrough drug to treat CF!👏🏿👏🏿

    Don't work for people of colour and inaccessible to poor folks😳

    Scientist develops breakthrough drug to treat RICH WHITE FOLKS with CF!

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    I was literally at a CF research day talk when the notification of this video popped up. I am now positive that scishow is stalking me.

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    Mukul Sharma

    Congratulations to CF patients… I hope money won't become an obstacle for your treatment… which it probably will..
    anyways… good luck..

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    Christopher Chase

    @~4:50 Hank says that whether those with CF will get the drug depends most on insurance companies. Well, kinda, but It's much more accurate to call out the drug manufacturer, who clearly has the most direct control over its own prices.

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    People of color? So literally all non-whites, i.e. most of the world, or can we stop using such an egregiously inadequate, ironically whitewashing term?

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    Slippery Stairs

    Oh those poor people of colour. What ever will we do about the people of colour? I await the day that SciShow complains that a medicine isn't equally efficacious for white people as it is for other races.

    It's actually worse than that – they're intentionally using a terms which means 'all races except white people'. Imagine complaining that a medicine didn't work as well on average for people who are not Indian as it does for people who are Indian. That would sounds like an SNL sketch, and yet, here we are.

    How is no one else seeing this?

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    When I think about the price of some of these drugs I think about all the murders that go on every day and none of them are committed against these Pharmaceutical executives. Very odd to me.

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    Findings: Effects of Cannabis on Cystic Fibrosis

    Research suggests that cannabis offers several therapeutic benefits to patients with cystic fibrosis. The disorder has been found to be associated with an impaired endocannabinoid system, which in turn causes an imbalance of fatty acids. Studies have shown that with cannabis treatments, the body’s endocannabinoid system will normalize, leading to improvements3.

    One cannabinoid in particular, tetrahydrocannabinol (THC), has proven to be beneficial for those with cystic fibrosis. Studies have shown THC to relieve nausea and vomiting and have bronchodilating, anti-inflammatory, anti-diarrheal, and pain-relieving effects5. One animal trial found that treating cystic fibrosis mice with THC during infancy prevented infertility in males2. Another found that regular THC treatments during infancy caused motor activity and anxiety levels to be normal in mice with cystic fibrosis3. Additionally, marijuana treatments have been shown to help combat the mortality caused by a lack of appetite and subsequent malnutrition in cystic fibrosis patients5.

    Researchers have gone so far as to suggest cannabinoid treatments for children or young adults with cystic fibrosis to improve food intake and reduce inflammatory exacerbations, thereby helping to improve their health condition6. 

    A study by the Ariel University Center of Samaria in Israel concluded that an imbalance of fatty acids is associated with cystic fibrosis, and because endocannabinoids are derivatives of fatty acids, endocannabinoid system is also is disturbed. Apparently this fail in the organism is the determining factor producing infertility.

    Furthermore, a low stimulation of the cannabinoid receptors with tetrahydrocannabinol (THC) in infancy and adolescence seems to normalize the endocannabinoid system and prevent infertility in adulthood in male mice.

    The research has positive and promising conclusions in animals, but not in humans. Particularly the concept relating to pharmaceuticals and environmental agents, may be poor predictor of human reactions. Therefore, the design of clinical trials is needed to confirm if such therapy will produce a similar, if not the same benefits in individuals.

    Finally, other cannabinoids should be investigated to treat cystic fibrosis. For example, cannabidiol (CBD), a non-psychoactive component of the cannabis plant. Its anti-inflammatory effect can prevent inflammation in the lungs or in the digestive tract. 

    Mom and I had flown to Denver to meet a specialist and strategize treatment for my nontuberculosis mycobacterium. Part of the clinic visit concerned treating my barren appetite and nonstop nausea. We’d tried nearly every anti-nausea prescription by then, and nothing did the trick. My daily “meals” were composed of one or two nibbles. Being in the “Mile High City,” the conversation naturally turned to cannabis.

    Doctor: “Marijuana’s legal here, ya’ know. Might as well try it while in town. Do edibles, of course.” Fun fact: Smoking isn’t recommended for those with lung disease.

    I was adamantly against any use of the ol’ devil’s lettuce despite being a 21-year-old in college. My pastor from Hawaiʻi floated in my vision, saying his oft-repeated phrase, “Eh, brah. Stay off da weed!” while miming holding a joint.

    Mom and I glanced at each other and awkwardly chuckled, “Pahaha … Nah …”

    Flash forward two hours, and we’re in a legal marijuana dispensary that’s seemingly co-run by Tommy Chong and Willy Wonka. Cannabis was infused into every treat imaginable: chocolate, lollipops, cookies, brownies, Jolly Ranchers. Luckily, my CF-related diabetes hadn’t kicked in by that time.

    I could feel good about gummy bears. Cute bears. Innocent, pure. “Pop maybe, like, two,” the blond girl at the cashier’s counter said. She’d just finished telling us about how she regularly smuggled marijuana flowers onto airplanes, which tainted my attempts to focus on this venture being a perfectly legal experience.

    We left the store with a pill canister of attractively colored gummies — teal, emerald, violet (purple always sounds more attractive as violet, no?). I popped two, prayed for forgiveness, and waited 30 minutes. Nothing. I popped two more. Then two more. See, being a goody two-shoes, I regularly filtered out conversations about weed — including, perhaps, conversations about edible marijuana taking a couple of hours to work.

    Oh, it hit me, all right. We walked past an Italian restaurant after a two-hour movie. The whiff of Jupiter’s ambrosia hit me like a sweet, beautiful sledgehammer: pasta. I ate two loaves of bread, a plate of fried mozzarella, salad, and a gigantic bowl of baked ziti, and washed it down with four glasses of strawberry lemonade (cotton mouth is real, y’all).

    My airways and sinuses shot wide open for the first time in years, and my inflammation pain “magically” disappeared. I also coughed up a lot of mucus. And my brain didn’t turn into overcooked oatmeal like I’d always imagined would happen. It was my first time meeting Mary Jane, and she was … pleasant. I walked back to my hotel grinning, drew a piping hot bath, and faded into a food coma in the tub.

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    States That Have Approved Medical Marijuana for Cystic Fibrosis

    Connecticut is the only state that has specifically approved medical marijuana for cystic fibrosis. Under the law, adults and minors under 18 with cystic fibrosis can be recommended medical marijuana.

    Also, several states have approved medical marijuana specifically to treat “chronic pain,” a symptom commonly associated with cystic fibrosis. These states include: Alaska, Arizona, California, Colorado, Delaware, Hawaii, Maine, Maryland, Michigan, Montana, New Mexico, Ohio, Oregon, Pennsylvania, Rhode Island, Vermont and West Virginia. The states of Nevada, New Hampshire, North Dakota, Ohio and Vermont allow medical marijuana to treat “severe pain.” The states of Arkansas, Minnesota, Ohio, Pennsylvania, Washington and West Virginia have approved cannabis for the treatment of “intractable pain.”

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    Dave Toms

    5:53 "Just really, really sad. And that resonates with me."
    The way Hank said "me" tore my heart out of my chest and kicked me in the nuts. I wanna give him a hug.

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    A healthcare industry in which it is ok for a human being to be denied treatment because, “they can’t afford it” is inhumane and should be abolished.

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    A company made a drug that people's lives depend on and then decided to charge obscenely high prices for it!? Wow I'm shocked. I don't think that's ever happened before. Who could have predicted that? No one, because it's so surprising. Tune in for next weeks addition of stupid comments where we realize that maybe super wealthy people actually won't always do the right thing when left unchecked.

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    Soul Searching

    The world misses you. I miss you. Thank you for blessing me with your precious ‘snippets’ in the short but dense time you spent your life here. Forever in my heart.

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    I was really happy to hear of something that would alleviate some of the suffering from this horrible disease, but then when I heard about the costs, I felt let down. Life-saving medicine should not only be affordable to the very rich.

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    This is great news concerning a horrible disease. When I was a little boy in the early 1960s my best friend had CF. I'd visit him, and his Mom had to spend what seemed liked hours pounding on his back to loosen the phlegm. I remember thinking she was torturing him, but my Mom explained it was the only treatment that helped. There were times he nearly suffocated, and he was the smallest kid in school. With his small size and his chronic cough, he was always getting bullied, at least through third or fourth grade. He somehow did make it through elementary school, but I moved away and later learned he had died. It will be great when kids don't have to suffer like my friend suffered.

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    Matthew James

    I can see the commercials now. “If you or a loved one has taken Trikafta and suffered from the following…”

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    Nature's Finest

    A lot of people complaining about the price. You need to have a higher price point to recoup the money you lost making the product. With a lower price point You are also negatively effecting all of the lives of the people who helped in the creation of the product by not allowing a paycheck. Along with that the extra money they get from selling it goes into more research and development for new drugs and procedures to save more peoples lives. If it was cheap, production of new life saving technology would slow to crawl if not stop.

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    Adam McCarter

    Couple things 1. I have CF and have the F508 mutation 2. No one I know, including myself, can or ever will be able to afford it …

    In fact, the only ones who will be able to afford this belong to private health insurance – the problem with health insurance? Unless you purchased it for your son or daughter before the official diagnosis (the first few months after childbirth) – you can't get it. I worked for a major financial institution before becoming too sick to work and I understand the insurance game from within. I have insurance through my wife who works as a nurse but it doesn't cover a $311,000 per year drug.

    At this point, even with this 'breakthrough' – I'm just waiting to die or, because I'm lucky enough to live in Canada, maybe get a double lung transplant during the small window given between very sick and too sick.

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    marie-hélène martel

    Coming from a Québec region where there is a high number of people affected by the disease ( we have also 4 others genetic diseases which are very rare elsewhere) I am glad here people won't have to deal with ridiculously expensive meds prices like in the U.S.

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    Brie’s Thoughts

    Great video! I love how you shared complex and detailed information to those not familiar with the topic. 👏👏👏👏

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    Generic Username

    The price is pretty "reasonable". Companies sank billions into research, development, and clinical trials. There are only 30K people in the US with CF. All these rare disorders have the same problem:1) Drugs that target a new drug target are extremely investment intensive, take 2-3 decades to bring to market, and most drug candidates will fail.2) Rare disorders have a very small consumer base.3) Drug patents only last 20 years. Companies, at the bare minimum, have to recoup all those costs, in 20 years, from a pool of a few thousand people.
    The only alternative would be having the taxpayer buying the patents. The government would have to give these companies 5-10 Billions dollars for the patents. That could be a good idea though, since it would reduce total healthcare spending and drive capital into new research.

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    Matthew Trzcinski

    We have such a lush society that we seek to treat defects instead of terminating them. The actual cost of production can’t be more than a few thousand per year, some philanthropic orgs could buy the patent for a billion dollars.

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    Can I somehow unlearn the ability to read? Like by for example electric chocks if I manage to put togheter a word

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    Would somebody with some knowledge of business or pharmaceuticals mind explaining why they price the drug so high? I know they need to recoup production costs, but it seems to me that the more effective way to do that is by reducing the price to increase their customer base. The whole deal with pharmaceuticals is that research is expensive, but production is cheap, right? So, if they cut their price by 50% (for example), then they only cut their profit per dose by ~50%. At the same time, it seems it would more than double their customer base, which would be an overall increase in profit. What gives?

    P.S. In case this wasn't clear from the way I worded my comment: responses along the lines of "caPiTaLIsm Is eViL" are not answers to my question. I want to know why the current price is optimal from a business standpoint.

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    Crabs got blue blood (from using cobolt instead of red iron to tranpsort oxygen) and the octupus got green (from manganese).
    So does those chemicals have any advantages or disadvantages to hemoglobine?
    Can humans start using cobolt instead of red blood to create a blue-blooded royal masterrace?

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    I understand needing to recoup the cost of development and the want, not NEED, to earn a profit. But honestly the insanely high cost of many medications is just cruel. For many who can’t afford life saving medications it would literally be better not to have such hope cruelly dangled over their heads.

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    Meghan died from CF a few years back at the age of 30, leaving behind her husband and 3 kids. I'd known her since I was born because she was my sister's best friend even as children. CF has always been an important topic to my family because of Meg, a fighter who was told she wouldn't live passed 10.
    Great to see advancements in treatment. I wish she could have lived to see this. But it's comforting to know that others won't have to suffer the way she did.

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    Timmy Dirtyrat

    My uncle Michael died of CF in his teens many decades ago. I hope to god people will not have to struggle through what he had to struggle through.

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    William Vincent

    What? Corporations are refusing to play nice and charging an unconscionable amount of money for life saving treatments?
    <scathingSarcasm>NO WAY!!!</scathingSarcasm>

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    Lilliah Pasco

    As a CF patient, I am truly so thankful and excited for this. I have one copy of f508delta. I never thought I’d see this day, but here we are.

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    Atrum Nuntius

    The hell is the point in selling medications for so much that no one or insurance company is going to be able or willing to pay for that? Wouldn't you make way more profit by getting as many people to buy it as possible for a more reasonable price?

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    Anna McVey-Tyson

    It's actually delta, not del, at the end of the CFTR mutation's name. Also, this has been such big news in the CF Community. Like Hank, said there are still people who won't be able to take the medication, because their genetic mutations aren't treated by Trikafta. However, it is awesome, and I'm hoping that others with CF will soon be able to take CFTR modulators that do treat their mutations.

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    Okay, great, the drug exists, but the real question is how many more years until it's accessible to the masses and not just to the ultra rich?

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    Nicholas Heimann

    Crisper enhanced, for safe insertion site at the correct locus, safe viral vector CFTR gene therapy. It should be easy to aerosolize it into the lungs, use a different viral vector I.V. for the pancreas.

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    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.

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    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!

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    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.

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    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!!

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    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.

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    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?

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    Minecrat Silent Build

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

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    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?

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    Saumitra Chakravarty

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

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    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?

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    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?

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    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.

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