Cystic fibrosis treatment wins Breakthrough Prize

https://www.nature.com/articles/d41586-023-02890-1

by Bender • 3 years ago

412 194 3 years ago

I have a friend who has been saved by this and I have two funny points.

CF makes you not process food correctly so you can eat a ton of food and not gain weight. After taking this medicine he was upset because his body started processing food correctly and he put on a bunch of weight initially.

This really is a life saving cure for most general genetic versions of CF but he also remarked that it’s great they found a cure now because it’s basically a white people disease and the amount of funding it got for a cure was likely going to come under scrutiny.

spondylosaurus4• 3 years ago

Re."white people disease," I thought this was a neat excerpt from later in the article (about Parkinson's, to be fair, not CF):

Njideka Okubadejo, a neurologist at the University of Lagos in Nigeria, welcomes the award announcement. Okubadejo, Singleton — who leads the Global Parkinson’s Genetics Program — and others have identified a new genetic risk factor for Parkinson’s disease in the GBA1 gene in people with African ancestry that is rarely seen in those of European descent7. “The next step is to find a biological mechanism by which the gene causes the disease,” Okubadejo says. “Then you can build upon that to reduce the likelihood of the disease occurring.”

The distribution of random genes among ethnic subgroups is always an interesting glimpse into the situational tradeoffs that certain genes bring. Like how the gene that causes sickle cell anemia is really good for malaria resistance... but it also gives you sickle cell anemia. Which might actually be a decent tradeoff when malaria is a constant threat, so you can imagine why it's prevalent in areas where malaria-carrying mosquitos flourish.

Or you hear about different HLA subtypes where like, one variation offers some kind of useful trait or immunity, but it also brings an increased risk of skin cancer, but the people who carry that gene generally lived in an area without much sun and so it was still a net advantage. Until modern times, when those people have descendants across the globe...

Also, very glad to hear your friend's doing well :)

pcchristie• 3 years ago

Another interesting link is that between mental health issues (schizophrenia, bipolar) and "elite" creativity and the risk of losing the latter if we can ever gene edit the former out of our genome.

Siddhartha Mukherjee talks about this in The Gene.

trollian5• 3 years ago

There's a theory that having a single CF mutation can help combat the effects of cholera.

paulpauper3• 3 years ago

why can't a weight loss treatment be created harnessing a similar effect . dial down the pancreases so food does not digest as well

tux32• 3 years ago

Most weight loss treatments have terrible side-effects. GLP-1 is working pretty well as a target now, but all the other ideas didn't turn out so simple after all, and there were a lot of ideas for weight loss drugs

ramraj07• 3 years ago

The issue is this is like nicking an engine oil tube to decrease the car mileage. In principle it could work but you really need to nick the right tube at the right place. We have been nicking things everywhere for decades but finally with glp-1 and sglt2 inhibitors we found the right ones. A bit serendipitously.

contravariant• 3 years ago

Trying to mess with any part of the metabolism is going to have consequences.

You can even take a more direct route and make the body just burn more energy. Works perfectly well, technically doesn't have any side effects, though you have to take into account that burning energy results in heat.

And in all cases homeostasis is just going to attempt to return to normal as soon as possible. You need to somehow break the loop of your body wanting more energy to maintain its weight. This is a lot trickier because the checks and balances are everywhere and affect everything.

DoreenMichele12• 3 years ago

Better idea: Focus on eating high nutrition, low cal foods (relatively speaking). Skip or limit the empty calories.

If you have CF, you become seriously ill in part because you are effectively seriously malnourished. I suspect many overweight people are also effectively malnourished and don't know it because their body turns the empty calories into fat.

samus7• 3 years ago

Cystic fibrosis clogs the pancreatic ducts, which eventually causes irreversible damage to that organ. Because of that, many CF patients also develop diabetes. Sounds like a terrible way to downregulate the pancreas.

datavirtue• 3 years ago

Terrible side effects.

syndicatedjelly• 3 years ago

Wow who is this committee scrutinizing which diseases should be cured based on the race that it most affects?

Scoundreller9• 3 years ago

donors

mortureb3• 3 years ago

Funding

DoreenMichele12• 3 years ago

It's not a cure and I think the idea is more like "It's an extremely expensive disease and a tiny number of people get it and if it weren't a predominantly Caucasian disorder, no one would be okay with spending this kind of money on it."

dghughes• 3 years ago

because it’s basically a white people disease

White and mostly male. My local university or more precisely certain students wanted to drop CF as a cause to support due to those factors. Pretty disgusting and it was quickly dismissed for what it was. The uni still supports and fund-raises for a CF cure.

samus7• 3 years ago

CF has a higher incidence in populations of northern European descent, but there is no gender gap there. There is only a so-far unexplained difference in life expectancy that reduces the life expectancy of females surviving to adulthood, which creates the impression that this it mostly affects males.

odiroot• 3 years ago

CF makes you not process food correctly so you can eat a ton of food and not gain weight.

Is it just quickly extracted as stool?

samus7• 3 years ago

It occurs less often in other ethnic groups, but not rarely enough that the therapy should be considered irrelevant for them. The f***ked up part is that Trikafta's producer does not make it available to developing countries and tries to block generic alternatives.

ftxbro3• 3 years ago

In the near or medium future they will screen/crispr the germline so no one will ever have it. Yes it's eugenics but it will happen.

Edit: the ones downvoting me is it because you don't think it will happen, or because you don't think it's eugenics, or you think it's rude to talk about it?

the__alchemist• 3 years ago

Concur. I think this is likely to be controversial, and become an increasingly popular news topic and political wedge. (Maybe in the next few decades?) It seems that we can eliminate some genetic diseases through a combination of screening and embryo selection.

thedailymail• 3 years ago

This has already happened with Down syndrome in Denmark.

https://cphpost.dk/2020-08-21/news/record-low-numbers-of-chi...

rcme• 3 years ago

In the US, when we had a kid, we had genetic screens done for over a hundred genetic diseases. The baby’s DNA was also tested for Down’s.

fnordpiglet4• 3 years ago

It’s a shame as down people are the best of us.

tux32• 3 years ago

Screening is already very common. Offspring with unwanted genes can be screened off if mom is willing to abort (and if not, you don't typically bother with the screening)

I learned that from a medical lesson, it's just standard of care today

Scoundreller9• 3 years ago

If you're doing IVF, many (all?) of these can be screened pre-implantation.

michaelsbradley• 3 years ago

It's definitely eugenics and societies that hope to be just and grounded on the dignity and sanctity of human life will make it illegal.

elboru• 3 years ago

Truly unbelievable and sad how quickly a dechristianized society adopted this practices with no issues.

car5• 3 years ago

Carrier screening is pretty much standard today. This way the risk of two carriers having an affected child can be avoided.

How is this eugenics? Does not make any sense.

slibhb• 3 years ago

What you're describing is clearly eugenics, just a benign form.

justrealist• 3 years ago

Carrier screening covers a really small fraction of pathogenic variants. It'll catch really catastrophic stuff but there's an enormous number of mixed-penetrance/AD variants that people pass on because they aren't lethal.

(plus, let's be real, most prospective parents don't carrier screen. only ones about to undergo IVF where PGT-M is sometimes an option.)

User23• 3 years ago

Eugenics is definitely a loaded term. It denotes good genes and of course everyone wants that. On the other hand it connotes a bunch of ugliness like culling persons with undesirable traits.

Everyone practices eugenics in the denotational sense after all. Nobody thinks “hey, I want to have children with this person that I think will give them bad genes”

Incidentally one of the major selling points of abortion is culling persons with genetic defects, which is absolutely eugenic.

car5• 3 years ago

The high prevalence of CF in the white population was hypothesized to be due to the protective effect of being a carrier (heterozygous) of a CFTR mutation against typhoid fever, very common in Europe in the old ages.

A study in 1997 was able to prove this [0].

[0] https://pubmed.ncbi.nlm.nih.gov/9590693/

bdcravens14• 3 years ago

Cholera as well.

car5• 3 years ago

Thank you! I forgot about that.

This was researched as early as 1994 [0]

[0] "Cystic fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse model", https://pubmed.ncbi.nlm.nih.gov/7524148/

tastyfreeze• 3 years ago

Interesting. Similar story with sickle cell anemia, more common in Africa, and malaria.

Selfcommit• 3 years ago

I lost 2 uncles that I loved, and 1 aunt I never met to CF.

I am incredibly happy for those who have gained literal decades of life from this new treatment.

I do wish the wheel of progress could have moved faster.

varjag• 3 years ago

My sympathies. I lost my dearest friend to CF just last year. If it only been developed a few years earlier…

gustavus• 3 years ago

My wife has several family members with CF. They have started on trifekta and it has changed their lives radically to the point the disease barely effects them day to day.

It truly is a miracle and a breakthrough, and the only shame is that these brave pioneers are only getting $3 million for their heroic efforts.

Meanwhile the actual cost of the medicine is $10k a dose.

bdcravens14• 3 years ago

The pricing is more like $25-30K/month. It's taken twice a day, in pill form. (I have CF and take Trikafta)

squeaky-clean• 3 years ago

Please tell me insurance pays for most of that?

yread2• 3 years ago

There is one major reason for high costs, Vertex needs to recoup high licensing costs that they paid to .... drumroll.... The CF "Foundation"

https://www.cff.org/about-us/our-history

2014: The CF Foundation sells royalty rights for CF treatments developed by Vertex for $3.3 billion – bringing resources to the fight against CF never thought possible

CFF funded the original research https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219147/ and then made the drug unavailable to most patients. How do these people sleep at night?

cowsandmilk• 3 years ago

high licensing costs that they paid to .... drumroll.... The CF "Foundation"

What are you talking about? The CFF invested in the research being done at Vertex and then sold their shares in the investment. There are no licensing fees.

made the drug unavailable to most patients

Where’s the data showing the majority of CF patients aren’t receiving Kalydeco or Trifekta?

vibrio• 3 years ago

The drugs may have never been developed without the CFF. They arguably took more financial risk than vertex. Vertex was trying to be a hepatitis c company at the time and cf was an off focus program that happened to come with an acquisition. With out CFF funding my guess is the program would have been cut. The fact that the nonprofit got a royalty stream from their significant financial investments is good practice. The drugs are expensive, but how much is a patients life with? How much money does stopping progression save the healthcare system financially? Aside from giving the patients more normal and longer life, persistent and repeated hospitalizations and lung tra transplants are very costly and poorly effective. This is an example of transformative Medicne. Our society needs should prioritize such work.

junon• 3 years ago

My close friend died a few years back from CF. Great to see progress in this area.

bawolff2• 3 years ago

Shame the life saving drug is rediculously expensive. I dont normally subscribe to bug pharma being greedy, but this one seems like a compelling case for that.

The canadian gov (PMPRB) tried to do sonething about that but i think they backed down

BurningFrog2• 3 years ago

It's better to think of it as math.

Developing drugs is very expensive, and the few that turn out to be effective need to be priced to pay for all those costs.

The alternative is pretty much to not develop new drugs.

maxerickson2• 3 years ago

A foundation provided $150 million to develop one of the drugs in the combination and then sold the royalty rights to it for $3.3 billion:

https://web.archive.org/web/20141227030211/http://www.cff.or... https://en.wikipedia.org/wiki/Ivacaftor#Economics

Hard to argue that the $3.15 billion is a development cost.

I guess Vertex could have dumped billions more into making and marketing the combination.

bdcravens14• 3 years ago

I'm not sure how the accounting works out for Vertex, but they provide copay assistance even for high incomes. I have CF, and take Trikafta. I have an above market developer income, and I pay nothing for Trikafta due to their copay assistance (it's the only copay assistance program that's available to me, given my income)

Scoundreller9• 3 years ago

But what does your insurance company pay?

refurb4• 3 years ago

It's ridiculously expensive because it's a rare disease.

The total investment to bring this drug to market is in the range of hundreds of millions of dollars. Recouping that expense when there are only hundreds of patients in the US or thousands across the global requires a price that is far higher than normal medications.

Then layer on top the 1 in 20 chance that a drug actually makes it to market after that investment and the math starts to make sense.

Scoundreller9• 3 years ago

Tens of thousands of patients in USA, and given the massive longevity improvements, that count will go up. And add to that a likely increase in childbirths by CF patients.

People can save a bundle of money if they take advantage of the fact that it's a CYP-3A4 substrate, but I'm not going there and don't officially recommend this. But if you're lost in the woods and there's some grapefruits around....

bawolff2• 3 years ago

The total investment to bring this drug to market is in the range of hundreds of millions of dollars. Recouping that expense when there are only hundreds of patients in the US or thousands across the global requires a price that is far higher than normal medications.

So lets assume the drug cost 180 million to develop. There are currently 30,000 people with CF in united states. At the current price point they would recoup that cost within 2 months just from usa sales. This is a drug cf suffers would have to take for the rest of their life.

Its reasonable its more expensive than you average drug, but the $310,000 per year for these pills still seems excessive. Especially when its basically a death sentence without them so their customers are really held over a barrel.

monero-xmr• 3 years ago

Seizing the profits from successful drugs is a one-time event. After that, you won’t see any new drugs.

gcanyon2• 3 years ago

How long until we stop noticing that medicine is advancing at warp speed?

mortureb3• 3 years ago

Probably once they cure HIV

JumpCrisscross4• 3 years ago

once they cure HIV

HIV is practically (i.e. not literally) cured, between treatments and PrEP, in the developed world. And it looks like we’re approaching vaccine.

snvzz• 3 years ago

Once we effectively deal with aging, and get to see 120+ yo people in 30s-like overall condition (and indistinguishable at a glance).

Aging in characterized in some 8 or 9 ways an old person is different from a young one. Each can be targeted and reverted, in a maintenance approach. Research organized by Aubrey de Grey is all about that.

gcanyon2• 3 years ago

I'm hoping to be one of those 120+ year olds...

bdcravens14• 3 years ago

I have CF, and I take Trikafta.

Before Trikafta, I usually had a 5+ day stay in the hospital every year, and sometimes I have would very stubborn respiratory infections that just wouldn't go away. I was mentally preparing myself for inevitable decline and eventual death.

Trikafta changed my situation dramatically. I've had no hospitalizations, and most the classic CF symptoms are either gone or extremely diminished. It can't undo a life of damage to things like my pancreas, vas deferens, etc, and I still take medicine to digest my food, but overall, it's as close to "normal" as I could hope for at this point.

The only real downside: weight gain. With CF the pancreas is blocked, so you lack in digestive enzymes, and it's a struggle to maintain a healthy enough weight to battle respiratory infections. After Trikafta, I gained some 30 pounds, and have a big belly on my small frame, and went up some 6 inches in the waist. To add insult to injury, it happened during the spring and summer of 2020, when buying clothes was a challenge due to the pandemic.

Speaking of the pandemic, the timing of Trikafta was amazing: it kept the normally full "CF floors" of hospitals empty, opening up those beds for those with COVID and keeping CF patients less exposed.

One side effect I should mention: many report extreme anxiety. However, I was starting an anxiety medication for the first time (something I should have done 20 years ago, but alas ...) and so those effects were muted or hidden to me.

DoreenMichele12• 3 years ago

Well, my understanding is you are simply born without a vas deferens (for most men with CF). But some of the other stuff may heal at least partially.

Scoundreller9• 3 years ago

ok, now you got me wondering... could a pregnant mother take this drug if they're at high risk of their fetus having CF (or confirmed via pre-testing) to prevent this?

(Or possibly will continue taking it if they have CF as we can expect more CF patients to have children)

bdcravens14• 3 years ago

I believe that the thick mucus present in the body more or less destroys the vas deferens, so we are born with it, but quickly lose it.

The scarring of the lungs and pancreas really can't be reversed.

trollian5• 3 years ago

My 8yr old daughter has been on Kalydeco (one of the active compounds in Trikafta) since it was approved and it means she'll live a fairly similar life to her twin sister, health wise. We only have to do airway clearance treatment when she's sick. It's crazy for me to think what a different life shed have had even being born a decade before.

car5• 3 years ago

Thank you for sharing this with us, I'm so glad for you! I can hardly express how amazing this development is to me! I had not heard about it before today.

matthewtse5• 3 years ago

It's utterly amazing to hear of another group of sufferers who are the beneficiaries of modern miracle medicine.

Personally, I suffered from an extreme case of eczema my whole life, which left me effectively a disabled person. Although eczema doesn't have a significant effect on life-expectancy, there wasn't all that much to live for, and I had basically given up on being able to do normal things like exercise or travel.

So it was very surprising to "hear the good news" that Dupixent(https://en.wikipedia.org/wiki/Dupilumab) was being released in 2017 (also fast tracked as a breakthrough therapy), I got on it, and it's made me 98% a normal person.

Here's to continued funding for new miracle medicines to help more groups of sufferers.

steve_adams_863• 3 years ago

I know someone with relatively bad eczema and I believe you when you say you believed you had nothing to live for. I’m genuinely glad you were relieved of that. It seems like it can be terrible to live with.

spondylosaurus4• 3 years ago

Dupixent rocks! If you ever get sick of infections, it sounds like JAK inhibitors have opened the door to daily-pill eczema treatments too.

konschubert2• 3 years ago

I find it incredibly inspiring and encouraging to see medicine advance.

Every new cure discovered also frees up resources to perform more research on the remaining deadly diseases.

Cancer, of course, being the big one.

maccard3• 3 years ago

I suffer from allergies/hay fever for 3-4 months of the year. When I was a teen I used to take cetrizine which would sort of help, but it left me feeling groggy and tired a lot, which was in some cases worse than the allergies.

Fexofenadine became available OTC available in the UK in 2020 and the pharmacist suggested I try it. I don't even carry tissues anymore during the summer months. If I ever miss a day though, it's immediately obvious.

It's not life or death, or anything like it, but it's a wild improvement in my qualify of life.

yawnr• 3 years ago

Dupixent has completely changed my quality of life too. I’d effectively given up on ever feeling normal again. Cheers to science!

jxf• 3 years ago

I don't have CF, but I am inspired by the pace of scientific advancement when I hear stories like this one. Thank you for sharing, and I hope every one of your years brings further boosts to your health.

dclowd9901• 3 years ago

My brother 12 years ago could have been you, as I read your comment. A double lung transplant and myriad complications later, and he passed on from this world.

Reading your experience makes me so happy that people with CF are finally seeing a light of hope in their experiences. You do all the walks, donate the money, remind people this disease exists and it’s so destructive but it always kind of felt like science wasn’t throwing a lot of energy into CF, so I’m so glad to see this development. I’m so happy for you. I wish my brother could have had that chance, but I imagine, given his incredibly generous nature, he’d be just as happy for all the CF survivors today who now have a fighting chance.

bdcravens14• 3 years ago

The CFF has actually done a good job of taking the lead. They approach it in a very startup-like manner. Trikafta is one of the results of that effort.

az226• 3 years ago

What medicine do you take to digest your food? Can you tolerate onions, garlic, and wheat?

bdcravens14• 3 years ago

Digestive enzymes, extracted from pigs.

CF has no bearing on what I can tolerate, though the fattier the food, the more difficult it is to digest. In a situation where I had no access to my medication, I'd focus on eating simple carbs, like fruit.

AnthonBerg2• 3 years ago

I am very glad to read this.

I don’t know very much about CF so I took the opportunity to read a little about it.

A hunch struck me that CF seemed like a disease where N-acetylcysteine might be useful (NAC). Have had good and unexpected results with NAC in relation to Type 1 diabetes; not widely used in that context afaik but recent literature describes mechanisms and benefits.

NAC is quite strange. Does a lot of things and works for a lot of stuff. Enough to seem a bit implausibly effective. It’s a mucolytic antioxidant which also replenishes certain important biological precursors and also has an effect on histamine and mast cells somehow, not just through being mucolytic (“slime-dissolving”). And more iirc. Just… does a lot.

There’s literature on positive effects in congestion, anxiety, diabetes, placental health, brain damage from methamphetamine poisoning in rats (!), COVID illness and recovery, and on and on. As I said it seems kinda implausible how widely NAC seems to help. I’ve seen it have very clear and obvious benefits. T1 diabetes isn’t really something you can delude yourself about; no bargaining with it.

As I read about CF I thought of NAC. I didn’t seem mention of it on the Wikipedia page for CF, but a Google Scholar search turned up some recent papers.

‘N-acetylcysteine (NAC) and Its Role in Clinical Practice Management of Cystic Fibrosis (CF): A Review’ —Guerini & co. ‘22 https://www.mdpi.com/1424-8247/15/2/217

Wanted to share and ask if you had any experience with or thoughts on NAC?

DoreenMichele12• 3 years ago

It's been an alternative remedy in the CF community for a while. People with CF hoard glutathione within the cell and have too little on the surface, so some people with CF use inhaled NAC to address the lack of surface glutathione in the lungs.

jamesblonde5• 3 years ago

In Sweden we treat with NAC and bisolvon, amongst others, so it is not alternative. We have the highest life expectancy for CF in the world. But remember, correlation is not always causation.

jamesblonde5• 3 years ago

I have 2 boys with CF, 12 and 14. They got ivacaftor from 4 and 5 yrs old, respectively. Pancreatic function returned for both, but has decreased over the last few years, FYI. just a data point. Don't stop the daily treatments either. It's not a full cure. The boy with a 32 mmol sweat is healthier than the boy with a 44 mmol reading.

bdcravens14• 3 years ago

For sure. I do still take daily Pulmozyme, though the we have taken out the inhaled antibiotics. For reference, I'm 46.

drgo2• 3 years ago

terrible name though. it won't be taken seriously in Arabic-speaking world where kafta means meatball.

Scoundreller9• 3 years ago

do arabic speakers dislike meatballs? I like meatballs.

drgo2• 3 years ago

I like meatballs just not in a pill form

DoreenMichele12• 3 years ago

It's a predominantly Caucasian disease, but if they ever find an Arabic market for it they could do name localization.

In French, they call CF mucoviscidose which is actually a more medically accurate name. (Shrug)

refurb4• 3 years ago

It truly is remarkable, not only for the vast improvement in outcome for patients, but also the science.

The genetic defect that causes CF results in a chloride channel receptor being malformed so it it doesn't function correctly.

The fact they were able to develop a small molecule that perfectly fits within the defective receptor and then causes the receptor to change conformation so that it's now functional is absolutely remarkable.

Then layer on top the company has developed a few molecules that can address the different defects in different patients is really amazing science.

It's transformed a disease where patients die in their 30's or undergo a risky lung transplant (and still suffer other aspects of the disease after) to a more moderate, treatable disease where life span is normal is one of the great medical achievements of our lifetime.

mlhpdx• 3 years ago

At $25k per month per person that’s $30,000,000,000 per year for the 100,000 folks with CF. As a T1D I get it, but there is no way of escaping the other impactful uses of that sum.

spondylosaurus4• 3 years ago

How much of that $30b is true cost (R&D/manufacturing/distribution) versus cost + profit? Cuz I'm guessing a lot of it is profit.

The actual sum of money required to keep those 100k people alive is likely much much much smaller.

konschubert2• 3 years ago

It’s basically a posterior grant, a price paid out to the company who invented the drug.

Eventually the patent will expire and the drug will become cheap for society.

In the meantime, the high payout will encourage the development of treatments for other rare diseases

brigadier132• 3 years ago

Are you arguing for eugenics?

benzini• 3 years ago

I have CF and I was fortunate enough to qualify for Trikafta despite one of my protein mutations not responding to the drug. I have seen some great quality of life improvements from Trikafta like being able to go to the gym again, not being as winded climbing stairs, gaining weight, and having fewer lung infections.

However, Trikafta can't reverse the years of damage from CF, inflammation, and heavy antibiotics to combat nasty infections. I do experience some anxiety and mood swings and have developed recurring kidney stones since starting it.

Still, I am thankful that such a drug is available to me and many others like me. Maybe one day CFers will never understand what it means to have advanced lung disease.

steve_adams_863• 3 years ago

Wow, to think that recurring kidney stones are better than what you were experiencing before. That’s incredible. Regardless, I’m glad you’re doing better.

olliej• 3 years ago

So this is a $300k/year medication but is apparently just (per the article) a combination of existing approved and developed drugs? As in the cost of development for this seems largely to be covered by the cost of development for the original drugs?

Is this behavior something that should be rewarded? “Yay you found you could combine existing drugs to make something better but your charging as much as if you developed those drugs as well”?

InSteady• 3 years ago

Your cynicism might evaporate if you read the article carefully without jumping to conclusions and make an effort to understand some background of CF:

“There was a lot of scepticism that this could be done,” Hadida recalls. ... The drug-discovery process required a marathon effort, testing the effects of more than one million compounds on isolated human lung cells to identify candidate drugs for clinical trials.

All of this research into these drugs was for the purpose of treating CF. They aren't developing drugs that target a CF-related protein in lung tissue to treat any other disorder. These drugs do not work on their own to any meaningful degree because protein function in the immune system is freaking complex.

Retraining proteins that are dysfunctional due to a genetic defect is not trivial stuff. They found a combo of drugs that allow a misfolding protein to function properly; two that when combined deliver the protein to the cell surface and then a third to get it to work properly once it is manipulated into the correct place.

CF also only effects a tiny percentage of the population. The only way the economics of this research makes sense is if they charge insurers a high price for it. If we don't reward this behavior, 70,000 people worldwide die at age 35 after having a medically miserable life. Instead they now have stunningly high chance of living until age 80 with significant quality of life improvement.

botanical• 3 years ago

Vertex Pharmaceuticals is not making its drug, Trikafta, available in poorer countries, where thousands of diagnosed patients stand to benefit.
The company is not trying to sell it, or allowing a local company to make it. Vertex is blocking potential generic competitors by seeking patents in numerous countries.

https://www.nytimes.com/2023/02/07/health/cystic-fibrosis-dr...

https://www.news24.com/you/news/local/this-johannesburg-woma...

Not to mention the price of $322 000 a year.

heywhatupboys5• 3 years ago

how would you incentivize medicine discovery if not for commercial applications?

not like communist countries are well known for groundbreaking new medicine...

saberience• 3 years ago

It's easy to say that when it doesn't affect you but I had a childhood friend die last year from CF because he couldn't afford the medical treatments. He was using the various "public funding" sites to raise money but in the end it wasn't enough and he died.

I don't know what the solution is as it's a complex issue... but seeing someone young (in their 30s) die from something preventable because they can't afford the drug is perhaps one of the most horrifying and dystopian things I've seen in my life and makes me worried for our future. One presumably where the rich can live 50 years longer than the "poors".

amrocha2• 3 years ago

The incentive is saving lives. That's what the researchers are in it for. The research is in large part publicly funded. Pharmaceutical companies are just charging rent on top of the discoveries.

The best argument you can make is that private pharma competes to improve manufacturing processes, but you world also have that in a 100% public system from multiple countries competing/collaborating with each other.

samus7• 3 years ago

They can have their cut, but the swell thing to do would be allowing poorer countries to produce it for their domestic use.

hackernewds2• 3 years ago

Do not read too much into the sensationalist pricing. No individual is paying that much.

Insurance is billed that rate, and they do not owe that much ultimately either.

samus7• 3 years ago

Such sensational prices eventually rain down on those paying for insurance though. In case of private insurance, it increases premiums. In case of public insurance, the taxpayer has to foot the bill.

vecinu• 3 years ago

A friend works at Vertex and couldn't tell me for the longest time what the secret sauce was. The FDA approval was the only thing blocking their right to basically print money.

It's awesome people are benefiting from the drug, even if the money extraction schemes are dubious or marginally ethically ok.

JumpCrisscross4• 3 years ago

$3mm for curing a disease? This is fuck-you money material. The researchers should each get $100mm, to spend on themselves or further research.

j7ake• 3 years ago

Sometimes there’s talk about how science has stalled and there is no progress.

It’s nice to be reminded that there has been indeed real progress, especially at the applied and medical sciences.

customizable• 3 years ago

Bill Williams [1], perhaps best known for his 1983 game Alley Cat had CF, and suffered greatly because of the disease. He was 37 when he died. His book "Naked Before God: The Return of a Broken Disciple" is about his experience with CF and his faith.

The Digital Antiquarian has a well written article about Bill Williams' life [2].

1- https://en.wikipedia.org/wiki/Bill_Williams_(game_designer)

2- https://www.filfre.net/2016/01/bill-williams-the-story-of-a-...

bjornsing• 3 years ago

Seems the Swedish government thinks Trikafta is too expensive, so it’s not available/subsidized in Sweden [1]. Must feel terrible to pay 70% taxes and being denied access to a drug that could save your life… :/

1. https://www.dagensmedicin.se/specialistomraden/luftvagarna/d...

jamesblonde5• 3 years ago

It is available now. Vertex tried to play off different municipalities against each other, hence the delay.

poxwole• 3 years ago

Wonderful but they are actively working to block third world countries from making generic alternative or providing the drug at a cheaper cost.

Cystic fibrosis treatment wins Breakthrough Prize

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