The FDA has just approved two drugs that could change for the better millions of lives.
Both address sickle cell anemia. Casgevy is the first CRISPR-Cas based drug to get the nod for its gene editing approach to enabling a sickle cell patient’s body to produce the type of hemoglobin needed to carry oxygen through the bloodstream, while the other therapy, Lyfgenia uses a different approach.
Casgevy, which was called exa-cel in clinical trials, works by editing a patient’s bone marrow stem cells to make high levels of fetal hemoglobin — the healthy, oxygen-carrying form of hemoglobin produced during fetal development that is replaced by adult hemoglobin soon after birth.
Unlike adult hemoglobin, fetal hemoglobin resists forming a crescent shape in sickle cell patients, and scientists have long searched for a way to restart it. The researchers behind Casgevy solved the problem by editing a gene called BCL11A, which regulates fetal hemoglobin.
Crucially, these offer something approaching a cure for the disease. A clinical trial of Casgevy saw 29 out of 30 patients eliminated sickle cell flares for at least a year after treatment. Lyfgenia has seen similarly promising results.
The catch: both treatments are difficult and not tolerated by everyone who might benefit:
Casgevy and Lyfgenia requires several months of preparation, including a grueling regimen of chemotherapy to make room in patients’ blood marrow for genetically edited or modified stem cells.
The treatment involves multiple steps over several months. Patients must donate stem cells to be modified at a laboratory. Then the patients undergo chemotherapy. Finally, they get the cells back through a single infusion.
One consequence of the complexity involved is that, at least for now, not that many people will get the treatment. There are only a handful of medical centers able to deliver Casgevy right now, and they can handle roughly ten patients per year each–not a huge bite out of the ~800,000 or so sickle cell patients in the US, much less the roughly eight million world wide. And, of course, both drugs, though still unpriced, are going to be costly as hell:
Although both treatments are expected to cost at least $1 million per patient, advocates for makers of gene-based drugs said people need to compare such transformative medicines to major medical procedures — not to ordinary drugs.
That is, a one time treatment for a chronic and/or ultimately fatal condition can have a huge upfront cost and still be worth it–the example given in the Globe article is the cost of a heart transplant, also well over million bucks. There’s a lot more to be said about this, and David Anderson is the one to say it.
There is of course one elephant in the room. This first gene-editing therapy targets a debilitating and sometimes killing disease that hits mostly Black Americans. The argument over whether private insurance and/or Federal health care coverage should be required to pay for these therapies will be…interesting.
But all those caveats–complexity, cost, equity–aside, this is still an amazing result. It’s not quite like the inflection point when the prospect of vaccinating against infectious disease utterly altered the balance between humans and microbes/viruses. But it’s the same kind of conceptual change. We live in way-too-interesting times, but not all the news is bad.
To put it differently: Science, peeps!
Open thread.
Old School
Science is amazing!
Edit: And I’m glad someone can do it because science might have been my least favorite subject in school.
Trivia Man
Hmm, if only there were some way to spread individual costs over an entire population.
Medicare For All or bust
The Kropenhagen Interpretation
But we don’t have flying cars, so is it really worth it?
ETA: Obviously kidding, this is huge. But I missed most of the Thiel talk.
Alison Rose
Related convo:
I LOL’d.
Ken
Since last night’s thread reminded me of his existence, I wonder if Peter Thiel will demand this therapy? He has an obsession with getting young blood….
Ben Cisco
@Alison Rose: Savage, as the younglings say.
Betty Cracker
It’s heartening to hear about this progress, even if it will be a while before relief is widely available. An elementary schoolmate of mine had the disease, and it was terrible.
Anonymous At Work
Casgevy has another huge benefit: Because it uses the chemotherapy approach to modify cells into specialized stem cells while the patient has the defective cells stripped down by chemo, there will be more money and more interest in both chemo *generally* and adjunctive therapies/treatments for people undergoing chemo.
It’ll never be cheap or easy or painless, but this sets the stage for more work in treating diseases by resetting immune systems.
Yutsano
This is amazing news. Sickle cell anemia is a horrific disease. I’m just glad there’s going to be an effective therapy going forward to address it that hopefully can be shared with African citizens soon although I also hope the costs will diminish over time.
prostratedragon
@Ken: Not if he has to donate his own stem cells, per the protocol. But for those suffering this life-shortening disease it could be the dawn of something big.
Suzanne
I was very pleased to read this news this morning. Thank you, Tom.
Old School
Open thread programming note:
A new Monk movie started streaming today on Peacock.
Glidwrith
@Anonymous At Work: It should further the cure for HIV as well
columbusqueen
Great news! I will add, vis a vis vaccines, there should be a statue of Edward Jenner in the center of every major city. He saved more lives than anyone else in history, & I want to punch out anti-vacc idiots who argue otherwise.
Ruckus
@Betty Cracker:
A very close friend of mine had sickle cell and died from it. Docs kept her alive although she would have attacks that she had to be hospitalized for. And then she got one major asshole of a racist fuck doctor who didn’t give a shit that she was going to die but could be saved. And of course a beautiful, bright, responsible woman died because of racism. I’m rather amazed that I didn’t do something that would have ended me up in jail. For the rest of my life.
It still pisses me off and it happened around 20 yrs ago. I just hope he got his.
Brit in Chicago
The comparison of the cost with that of a heart transplant does help to put it in perspective. Does insurance generally cover the cost of heart transplants? (Not snark: asking because I want to know.)
Ruckus
@Brit in Chicago:
Like everything else it depends. Most likely if you have decent insurance. If you have crappy or no insurance then you are likely SOL.
different-church-lady
SWING VOTER INTERVIEWED BY NYT: “You say that like it’s a good thing!”
Martin
The New Yorker has an article on how college admissions standards for women have gone up over recent years
The article is pretty good and covers issues that would get most readers attention, but it fails to address the most common cause for this, at least at most public universities. California universities show this same trend, but California universities are NOT allowed to consider gender in admissions selection. We could not put a thumb on the scale due to state law. But the trend shows up here as well. Why?
The reason is twofold:
The net effect of these two is that it looks like women are held to a higher standard by the institution, when the institution has a uniform standard but the distribution of men and women in the applicant pool produces the different standards. A lot of statistical measures are qualified that they only apply in a random distribution. Gender in applications is not random, not by applicant quality, and not by choice of major.
Brachiator
I saw a news story about this potential breakthrough this morning.
I greatly appreciate the information posted here. Very clear explanation of the treatments and costs.
Villago Delenda Est
There’s always a catch with these medical breakthoughs, because people are not built with replaceable parts on assembly lines.
leeleeFL
Sadly, my first thought, while the tears fell, was “Will they trust it?”. We can hope it’s available and those that need it believe in it. We have crappy history with African-Americans on Health Care.
Alison Rose
@Villago Delenda Est: Except Ron DeSantis.
narya
@Brit in Chicago: As Ruckus notes, it partly depends on insurance. My mom had a kidney transplant, in her 70s (!); I think it’s 14 or 15 years ago this month. Thanks to my dad’s union and the health insurance they have as a result of that, they never had to worry about the cost. (They also have/had resources to cover anything insurance didn’t, but it was nearly all covered, IIRC.)
gvg
A lot of times costs come down over time. We also learn from the first real world patients. What I have hoped for a number of years now is that we could gene edit or chose to skip the disease. I say a number of years, because when I was younger science wasn’t at the point I was thinking about this. I have speculated how it would work. Would a couple have a choice of just picking embryos that combined without the carried gene? Is it recessive or dominate? I think its recessive and can sneak a ride for several generations, so ideally, we make sure it is not even passed on. What if they both have it and can’t get an embryo naturally without carrying it? could they (in future science) get a donor gene pair, or would it have to be a whole chromosome pair? That might mean a child is only 45/46’s from them. Would they choose an anonymous donor or ask a relative to keep it in the family?
Supposedly (I read a long time ago) sickle cell was a survival trait against sleeping sickness. That just seems unlikely, but maybe. I am sure modern medicine can do better. This illness just needs to go. Several others too. Which other genetic diseases would you like to eliminate? Are there any downsides or counter arguments to doing so? Besides money which is just theory at this point, and no point in worrying about yet. We can’t do it now, yet. It’s just a theory.
wjca
I only wish that they, themselves, could get to suffer from some (better yet, all) of the diseases** they object to vaccination for. Sadly, those most likely to suffer are their children, who don’t get a say in the decision.
** I admit to a preference for them getting polio. Followed by the teaditional “measles, mumps, and chicken pox” (just for the discomfort), and finally by small pox. But then, I have a bit of a nasty streak.
gvg
@Martin: You ought to try and write this up and get it where parents and high school students see it. You write it out pretty clearly here. People need to see that.
Is there a newsletter for high school guidance counselors so they can be armed with good info? How does one get an opinion in Teen Vogue?
Anoniminous
@gvg:
Malaria
cain
Speaking of big biden deal – https://www.whitehouse.gov/briefing-room/statements-releases/2023/12/08/fact-sheet-president-biden-announces-billions-to-deliver-world-class-high-speed-rail-and-launch-new-passenger-rail-corridors-across-the-country/
Let’s GOOOOOOOOOOOO!!!! New high speed corridor between Vancouver BC and Portland!
It’s this kind of shit that makes me excited – like we are moving this country forward and doing grand things. Ever since Reagan, I felt like we’ve been in a deep decline. The last cool shit we did was the Space Shuttle. Look how many products and technology we got out of that? When the feds spend – a lot of cool stuff start happening.
Anoniminous
@Glidwrith:
Probably not unfortunately. HIV causes systematic destruction of T-cells resulting in opportunistc infections across the patient’s physiology.
smith
@Ruckus:
The other way racism leads to undertreatment of sickle cell is in the withholding of pain medication. The attacks are excruciatingly painful, but when sufferers seek relief in the ER, it’s not unusual for doctors to assume they are addicts seeking legal highs and they then refuse to treat the pain.
cain
@cain: I wish we would stop calling this legislation “BiPartisan” I have no problems saying “Democrats are doing this” – the amount of jobs these projects are going to create – especially union jobs is going to be a lot. The GOP doesn’t want to spend money, they don’t want to invest in anything – they just want to throw all the wealth at billionaires.
Ruckus
@wjca:
We must be about the same age, because all of those diseases were around when I was a kid, other than the smallpox, which of course had a vaccine before then. I know of 4 woman who had polio. Two of my friends moms had iron lungs in their front rooms and the other was a schoolmate with it in both legs. One of them is my age and lives in the complex I live in. Everyone I knew had measles, mumps and chicken pox. Good times.
Tom Levenson
@columbusqueen: Pasteur too. Jenner was important, but it was Pasteur (and many contemporaries) who too germ theory and ran with it to a whole host of prophylactic (and in the case of rabies, curative) vaccines.
smith
The DC Appeals Court just upheld most of Judge Chutkan’s gag order. TFG will undoubtedly appeal to SCOTUS, but he’s going to have to cool it until they decide what to do. Unlike the NY gag order, this one prohibits him attacking likely witnesses, as well as govt staff and their families. That will greatly reduce his hit list.
smith
@wjca:
Measles is more than mere discomfort. My sister experienced brain damage from measles-induced encephalitis that seriously and permanently affected her speech. It’s not an exaggeration to say that it ruined her life
Ruckus
@smith:
I visited my friend of 40 yrs in the hospital a number of times. The only time she got absolutely shitty treatment was the last time she had an attack. There were treatments that helped her and let her recover. The last time her racist shithead of a doctor let her die. I still hope that shithead dies a nasty, brutal death, run over by a speeding semi or something like that. He violated his oath, do no harm. Given what I know about humanity he’s likely still practicing and is still a racist POS.
StringOnAStick
I remember* having measles and mumps at the same time.
*Actually I remember almost none of it because I was so damned sick. I probably should have been hospitalized, but in such a small town, the severely contagious nature of both illnesses would have likely shut down the hospital. It also would have required my parents recognizing the seriousness of the situation, which was a big no. Now the anti-vaxers can bring all that fun back for everyone!
Ruckus
@smith:
I got encephalitis from the measles as well. It stunted my growth. I have arm length and inseam of someone normally about 3-4 inches taller than me. I didn’t grow for almost 5 yrs. On of the very smallest kids starting HS. I was lucky, as you say, it can and did much worse damage for others in different ways.
trollhattan
@Alison Rose: I believe that last one has the Jersey gal’s fingerprints on it.
We approve!
StringOnAStick
@cain: This is great! How wonderful it will be to ride the train along this route. I see now that the Cascadia route is somewhat aspirational at this point, but it is such a good idea and necessary one. The route for the Colorado Front Range is a very high need location as well.
Villago Delenda Est
@cain: The very medium we’re communicating on right now is the result of government spending and investment. Ma Bell said computers talking to each other over phone lines was impossible. DoD/DARPA proved them wrong. All this electronic technology is the result of that and the Apollo Program. None of this could have happened in the private sector.
wjca
Yeah. When I hear someone going on about how marvelous the 1950s were, I figure either they weren’t alive then, or have selectively edited having those out of their memories.
gvg
@wjca: People don’t read the pioneer days fiction anymore either or their eyes slide right past the mentions of young widows and widowers, smallpox outbreaks, yellow fever, and so many children dead young. Colic. Of course, the Indians were killed even more by the smallpox, but it wasn’t just them. I was a super fast reader very young, and I got bored if I didn’t have anything to read. So I read all the older books too, not just the latest. Sometimes even subjects I wasn’t that interested in. I noticed how much death was in the past. It seems todays conservatives just don’t even know the past that well, which is funny really, in a not funny way.
columbusqueen
@Tom Levenson: Yep. I guess there’s a group online that argues Pasteur was wrong & germs don’t actually cause illness. Pretty horrific how stupid our fellow humans can be.
columbusqueen
@Ruckus: I sometimes tell anti-vac jackasses to go watch the beginning of The Miracle Worker to see what a vaccine-free world was really like. Death, blindness, deafness, you want THAT for your kids?
columbusqueen
@gvg: A walk through any cemetery illustrates your point nicely, with all the little gravestones with lambs on top showing where the babies are buried.
Princess
Hmm, a lot of these rail projects are going to benefit must-win states and even help us expand the map. I like it. I’d like it anyway, but I love the double effect.
Martin
@gvg: We tell guidance counselors this all the time. The main problem we had with any information to parents is that it didn’t conform to their own biases, and required them to draw conclusions that they didn’t like. As a result, we couldn’t get it to penetrate in a way that mattered.
Simply put, we can’t out-educate the fear mongering that is produced by US News rankings, media outlets and so on.
I mean, going to USC gives you materially no better opportunities in life than going to Cal State Fullerton does, and yet so much of the public has this insane bias toward institutional reputation over everything else. And a lot of that comes from this constant worship of Ivy League schools, and their role as some kind of measure of a persons worth. It’s such a toxic thing in our society, and we can’t really overcome it.
Ruckus
@gvg:
It seems todays conservatives just don’t even know the past that well, which is funny really, in a not funny way.
There is so much that conservatives seem to not know that keeping score seems to be very much a waste of time. And it would be funny if they even acted like they wanted to know. Maybe it’s just difficult to learn anything with their heads firmly located in the exit orifice.
Of course if they didn’t know not to insert it there in the first place….
cain
@Villago Delenda Est: Exactly – when we spend – great things happen.
India is now at that point where it is also doing that kind of “big sky” spending. Which I think is good – it changes the perception of the country – but also create a need in which hopefully people feel like that their country is going in the right direction – but also stop brain drain to other countries.
Glidwrith
@Anoniminous: It’s not widely known, but some years ago, a bone marrow transplant to a leukemia patient who was also HIV positive was cured. Serendipity – the donor happened to have T cells that were resistant to HIV infection because the CD4 receptor had a unique mutation.
This has happened twice to the best of my knowledge and immunologists know what the CD4 mutation is. There’s a chance if we can change the hematopoietic stem cells to cure sickle cell anemia, we can expand the technology to change the CD4 to a resistant variant.
ron
not to be that guy, but the artist’s name is Ancher, not Archer.
https://en.wikipedia.org/wiki/Anna_Ancher