14 ms·

A gene therapy to treat a rare, inherited form of blindness will cost $850K

70 points by joering2 9y ago

phnofive 9y ago
Is there data on how effective this is, and how the vision of those treated compares? I can’t imagine the price I’d put on a sense; nice to know you can literally get half of the price for a single eye treated.
- aaavl2821 9y ago
  Check this out: http://ir.sparktx.com/static-files/3f12ea2d-7f52-4ccd-93d4-c8ee7df871d2 http://ir.sparktx.com/static-files/3f12ea2d-7f52-4ccd-93d4-c... It is their corporate presentation; lots of data on the drug starting around slide 10. these are data from the clinical studies required for FDA approval. Investor presentations (for public companies) tend to have good summaries of the key data on a drug; for more info, you can read scientific publications on the drug in academic journals
candiodari 9y ago
> Only 1,000 to 2,000 people in the United States are thought to have deteriorating vision caused by this errant gene This drug will only work on, let's say 1500 people. Of those, let's optimistically say that 1/3 have insurance that will cover expensive treatment. So 500 patients can be expected to be treated by this drug per generation. So this drug will optimistically get a revenue of $500 million per 2 decades or so, or $25 million per year. The number generally thrown around for getting a new drug researched and onto the market is $200 million. So it will take 8 years just to break even (although likely front-loaded once it becomes known that this drug exists), and total revenue for this drug for the forseeable future is about 500 million. Does this seem spectacularly unreasonable ?
- superquest 9y ago
  No, it doesn't. It would just really suck to be one of those 1000 that have gene and can't afford the drug.
  - yazaddaruvala 9y ago
    While not ideal, the drug/delivery procedure will be reverse engineered in a matter of months, and these 1000 people could get on a plane and get almost the same procedure in India/China for $8,500 instead.
  - flukus 9y ago
    When does the gene kick in? Most government funded healthcare would probably see this as worthwhile if it affects people young enough, it's cheaper for the country to pay for the treatment and have a productive citizen than it is to have them on welfare for their entire life. If no one is going blind until late in life then the equation changes though.
    - prepend 9y ago
      This is an interesting line of thought. Blind people are not disabled though, they can have careers. It’s a false assumption that blind = lifetime welfare. I’ve worked with awesome programmers who were completely blind from birth. And quite a few who were legally blind. The comparison could be what the reduction in lifetime earnings due to being blind vs the $850k. But I think that having a utilitarian view toward delivering healthcare is frequently unethical once you start rationing care (eg, I’m 75 and not working at all, living off social security, $300k heart surgery is detrimental to society’s bottom line since if I die I stop collecting social security, etc etc)
      - LordKano 9y ago
        >But I think that having a utilitarian view toward delivering healthcare is frequently unethical once you start rationing care (eg, I’m 75 and not working at all, living off social security, $300k heart surgery is detrimental to society’s bottom line since if I die I stop collecting social security, etc etc) This is what so many people fear about the possibility of single payer in the US. Eventually, people will start to be pressured to see their duty to die for the benefit of society.
- sjg007 9y ago
  Medicaid will pay as blindness is a qualifying disability. It’s a second payer though which is why some people will go through insurance first.
  - jopsen 9y ago
    Will Medicaid be around much longer? Given the upcoming deficit created by the tax "reform"..
    - sjg007 9y ago
      Yes, most likely. It is also a 50:50 funded partnership between the States and Feds. Also as we've seen things can change quickly in politics.
    - hackeraccount 9y ago
      Look, if you want to be snide then it's just as easy to say that Medicaid won't be around because expanding it to non-poor people will cause it to go broke. Either that or the desire to cut health care costs from both sides of the spectrum will cause the program to go broke.
- doesnt_know 9y ago
  > Does this seem spectacularly unreasonable ? Like everything I guess it depends on your political views. Personally I think it's fine if medical care and research is a massive black hole of funds that the tax payer foots the bill for...
  - hycaria 9y ago
    Why ?!
    - ianai 9y ago
      Revenue seeks after profit. There are many diseases too rare to be feasible to research and develop on a cost/benefit revenue basis.
      - hycaria 9y ago
        So we should create a black hole of funds for a few people ? I don't see where the gain for society is there. Not everyone can be saved/helped, and medicines/drugs are probably too greatly overestimated now in my opinion. Also it's sad but some organisms are just not fit for some tasks (or sometimes even for life), and I don't think throwing money without any supervision or afterthought about it is a very wise answer as a society. Like, maybe we can just have blind people.
        tincholio 9y ago
        I wonder if you'd think the same if it was your kid (or you yourself) in that position. It's easy to take the pragmatic asshole position when it's not your skin in the game. It boggles the mind that people think like this in this day and age.
        hycaria 9y ago
        It's been published a few times over the past few days that healthcare professionnals often have lower expectancies towards medicine especially during end of life etc. So I guess I would actually think the same indeed.
- PeterStuer 9y ago
  Your whole reasoning is based on marble counting. A better question is were the people capable of doing the research working on the right problem, or should their talents have been applied to different problems? Once there is a 'cure', of course it should be handed out to everyone that can benefit from it.
- coldtea 9y ago
  >The number generally thrown around for getting a new drug researched and onto the market is $200 million. How much of the number is: 1) due to BS (as opposed to useful, e.g. for safety) bureaucracy 2) padding from the pharmaceutical, just because they can?
- andygates 9y ago
  It only accounts for patients in the US. Expand that market (or, if it's regulatorily fiddly, pursue those patients).
- adrianN 9y ago
  For a drug like this that uses a completely novel technique, gene therapy, I'd say that the R&D investment can also help in the discovery of other drugs. So you'd have to adjust the figures a bit.
- zimpenfish 9y ago
  > $200 million Doesn't seem to stand up to scrutiny, e.g. http://blogs.sciencemag.org/pipeline/archives/2017/10/18/drug-development-costs-revisited http://blogs.sciencemag.org/pipeline/archives/2017/10/18/dru... quotes $2bn as a more reasoned number.
  - Amygaz 9y ago
    Except that 1st. Sparks' stuff only cost a fraction of that to develop (closer to the $200M), and 2nd lot of the early expenses were fronted with tax payer's money.
    - sitkack 9y ago
      And it my understanding that, soon gene therapy will be selecting which bits to flip and flipping them. It still needs testing, feedback, etc, but it isn't the same as going through a full development cycle. Am I wrong?
- conanbatt 9y ago
  Whats unreasonable are the research costs. I would look into that.
- hackeraccount 9y ago
  As is reported down thread it might be reasonable or not but some of the assumptions are open to question. It's not unreasonable to suspect that Medicaid will cover the benefit. Also The number of people would just include the U.S. presumably the drug would be sold world wide.
  - testvox 9y ago
    But the rest of the world doesn't recognize FDA approval (and the FDA doesn't recognize any other country's approval process). So the cost of certification has to be paid again for every country its sold in.
tudorw 9y ago
"Clinical data shows that the drug works at[sic] up to four years in some patients" "a partial refund if the drug does not work in the first three months" So is it $850,000 every four years ?
- refurb 9y ago
  We don't know. I assume the 4 years came from the clinical trial (I.e. Patients were followed for 4 years).
- Amygaz 9y ago
  The longest study I've seen suggested at least 10y in long-lived cells. Technically it should last as long as the cell last. In the case of nerve cells, such as retinal cells, this should be as long as you live.
bufferoverflow 9y ago
I predict someone will figure out how to edit the genes the same way with off-the-shelf kits within a year or two and will publish it for free.
- comstock 9y ago
  Personally I somehow doubt this (in this case). The disease effects a small number of people (1 in 4000), and doesn’t cause complete blindness in all those effected. It’s delivered in a viral vector, kind of not so easy to do yourselves I’d guess. Probably the easiest way would be to get hold of some and culture the virus yourself? Then just make as much as you want. Still injecting something made without strict QC into your eye might not be so appealing.
  - Y7ZCQtNo39 9y ago
    These risks make it obvious why an "at home" solution is highly unlikely to come to fruition. You want to be putting enterprise-grade things into your eye. The only way you'd be able to guarantee that is to source the treatment through traditional channels.
  - bufferoverflow 9y ago
    https://www.fastcompany.com/40477808/genetic-modification-is-just-an-injection-away-if-youre-feeling-lucky https://www.fastcompany.com/40477808/genetic-modification-is...
    - comstock 9y ago
      The article is well written and interesting. The kit looks fun, but I don’t think it as (easily) be used to replicate this work, it’s just too different. The issues mentioned in the article also apply.
comstock 9y ago
The story is about the pricing, but the drug itself was more interesting to me: https://en.m.wikipedia.org/wiki/Voretigene_neparvovec https://en.m.wikipedia.org/wiki/Voretigene_neparvovec It’s a gene therapy delivered in a viral vector. They inject it (into your eye which much be fun). It appears to be one of the first approved gene therapies.
- stuaxo 9y ago
  Could something similar be injected into you're eye and turn it into a different kind of eye ?
  - comstock 9y ago
    They’ve cured color blindness with gene therapies already. It’s likely possible that you could add receptors for more wavelengths. It just doesn’t seem to be commercially viable (colorblind-ness therapy was never persued because risk/reward/commercial aspects don’t work out IIRC).
  - deleted 9y ago
    [deleted]
  - codeisawesome 9y ago
    This might be limited by what the sum total real capability is of the entire vision system. An eye that can receive extra wavelengths is useless without the Neurons that can perceive and project into our conscious mind. To imagine injecting viruses that will change the genetics of the brain is a major leap of discomfort.
    - fab1an 9y ago
      >An eye that can receive extra wavelengths is useless without the Neurons that can perceive and project into our conscious mind. Not necessarily. For example, consider that neurons in our auditory cortex aren't different from neurons in our visual cortex! What is different about them (and the "subsequent" perceptual/conscious level) is that they receive different inputs, and have learned the systematicity of how these inputs behave in relation to the body's own actions. This is related to the "Sensorimotor Contigency" theory of consciousness [1], which would predict that it should in fact be possible to process entirely different types of sensory input, given long enough exposure and a clear systematicity of the input signal. [1] http://www.scholarpedia.org/article/Sensorimotor_theory_of_consciousness http://www.scholarpedia.org/article/Sensorimotor_theory_of_c...
wozmirek 9y ago
Just wondering, why there's no mention of this being free, i.e. 100% government funded. Something like this essentially transforms somebody's life, allowing him/her to work, not being reliant on others etc. Not to mention the (oh, sadly) not quantifiable humanitarian reasons.
- stingraycharles 9y ago
  Because it's a slippery slope. You can always argue that a blind person is able to work in some way (callcenter, software dev, etc), and/or you can argue the same for other diseases. Where do you draw the line ? That argument aside, I am of the opinion that all healthcare should (eventually) be free so that arguments like these become moot.
  - kungito 9y ago
    This opinion comes around often and what bothers me a bit is this "free" in free healthcare. There is no such thing. Eventually the money for the people and things has to come from somewhere. The conversation is often about how do some EU countries have free healthcare and US doesn't. The answer is higher taxes, longer waiting lists, lower quality, no support for extreme cases and low accountability. "Free healthcare" countries often cannot afford these modern cutting edge treatments so people often end up leaving for US to pay for the treatment themselves. If US didn't have such a brutal healthcare system then who would do the research since the "free healthcare" countries cannot afford it?
    - albertgoeswoof 9y ago
      Healthcare is essential. Either you pay for the healthcare through taxes, or society does in some other way. The some other way that the US has implemented is to put layers bureaucracy of insurance and artificial "market choices" on top of the care, which removes all inefficiencies and inflates the cost dramatically. Of course the alternative is to leave people with health conditions out on the street and just ignore them, which does seem to be a common occurrence in the US
  - 9y ago
codeulike 9y ago
So Luxturna is a DNA sequence embedded in the AAV2 virus (https://en.wikipedia.org/wiki/Voretigene_neparvovec https://en.wikipedia.org/wiki/Voretigene_neparvovec). It seems like they modified the Kozac (header, basically) of the DNA slightly (see Wikipedia). But essentially what they're doing is injecting the 'correct' DNA sequence into people with a biallelic (both copies) mutation on the RPE65 gene. The AAV2 virus is there as a delivery mechanism to get the DNA into the cells more efficiently. The injected DNA then hangs around (loose, I think) in the cell and will get read and the correct proteins get manufactured even though the patients main copies of the gene are faulty. The virus bit might be hard to do, and maybe editing the header of it. I'm not sure. I guess that probably is quite hard. But manufacturing DNA and injecting it is fairly trivial, as in this guy with a PhD and a small lab was able to do it for about $400. There are biotech companies who will just make the DNA for you. https://www.theguardian.com/science/2017/dec/24/josiah-zayner-diy-gene-editing-therapy-crispr-interview https://www.theguardian.com/science/2017/dec/24/josiah-zayne... ... this was using CRISPR which is like a DNA find/replace, so in some ways more sophisticated than the way Luxturna works. I'm not saying anything about the price of this treatment per se, obviously a load of R+D and regulatory ballet had to be done here, but just saying the basic building blocks of some gene therapies are quite a bit cheaper than I imagined.
- zimpenfish 9y ago
  Although the opinion of real biologists seems to be that Zayner is a snake oil peddling hack who doesn't know what he's doing. e.g. https://freethoughtblogs.com/pharyngula/2017/10/14/i-could-use-bigger-muscles-but-im-not-going-to-get-them-with-biotech-in-my-garage/ https://freethoughtblogs.com/pharyngula/2017/10/14/i-could-u...
  - deleted 9y ago
    [deleted]
  - codeulike 9y ago
    That guy misunderstands the point of Zayners stunt, and also misunderstands the kits that Zayner sells (they are kits for using crispr on yeast in a Petri dish). Zayner acknowledges that his arm injection stunt is likely very inefficient. Still I'm not going to defend Zayner, he probably is a bit of a dick. But the point is that you can modify the DNA of at least a small number of your own cells in a rough untargeted way for about $400. That's quite surprising. Makes you wonder what might be going on behind closed doors elsewhere. edit: Here's Zayner's write up of his stunt: http://www.ifyoudontknownowyaknow.com/2017/10/the-first-human-to-attempt-crispr-gene.html http://www.ifyoudontknownowyaknow.com/2017/10/the-first-huma... (possibly dodgy ads, adblock recommended)
YeGoblynQueenne 9y ago
Science and technology make the world a better place - for those who can afford it. The rest can go get stuffed. I remember an old psychological test where you were presented with a scenario where a member of your family is sick and while there exists a drug that can cure them, you cannot afford it. You're given the option to break into the local pharmacy and steal the drug- and asked whether you would do it. The way you answer the question is an indication of your moral development stage. If I remember correctly, the idea is that the most morally developed individuals will decide that stealing the drug is not moral, that if everyone stole what they needed without regard to the interests of the original proprietor, there would be anarchy and society would collapse. So on the whole, the moral decision is to not steal the drug, even when your relative needs it. Well, if society allows a life-saving drug (or, indeed, a blindness-curing treatment) to be unaffordable to those who need it, then that's already a society that is not serving its members' interests. What the hell do I care if society can support science advanced enough that it can cure blindness, if it won't cure my blindness? I'm expected to do the moral thing and sit nicely and not rock the boat- but others are not expected to help me, in my need? Bugger that for a game of soldiers! A society that leaves people blind when it can cure them is just as useless as one that burns. So let it burn. I'd steal that drug in a heartbeat. Oh btw- in another article about this miracle cure, I read the ridiculous claim that blindness will cost a person about $1million in their lifetime, so the $850k price tag is justified. I don't see this claim in this article, but it just goes to show what some may consider "fairness": "blindness robbed you of $1million, now we're gonna take another".
- greenpresident 9y ago
  https://en.m.wikipedia.org/wiki/Heinz_dilemma https://en.m.wikipedia.org/wiki/Heinz_dilemma The Heinz Dilemma is not evaluated based on your decision but (as you correctly note in passing) based on your reasoning.
  - YeGoblynQueenne 9y ago
    Cheers. I was misremembering something about a Hans.
- 9y ago
jstanley 9y ago
If someone gets treated with this therapy, and then has children, will the children inherit the parent's original gene or the repaired gene?
- refurb 9y ago
  No. The genetic alteration is limited to the person who receives the therapy. Reproductive cells aren't affected.
  - Amygaz 9y ago
    I mostly agree with that, with the caveat that it could... The part where it doesn't: AAVs do not integrate their DNA into the host genome, not by themselves at least. They form latent infections, which will persist until the cell divides or die. However, the part where they could: AAVs can infect any type of cells, including germline cells. While they persist, if the cell becomes infected with an Adeno or Herpes virus, which can also infect a broad range of cells, then they could integrate into the host genome, including germline cells.
  - jstanley 9y ago
    So if you have this, at a cost of $850k, is it then unethical to have children, knowing that there's a high chance that they'll subsequently have to pay $850k in order to be able to see? I suppose, more generally, even in the absence of an $850k fix, if you have genetic blindness, is it unethical to have children?
    - JoeAltmaier 9y ago
      Not in our current human society, where new cures are invented every week. Its no longer a life sentence for your children; its a temporary setback.
      - TeMPOraL 9y ago
        This is what I came to believe too, and it's yet another reason why I believe the highest priority for the society is to stabilize what we have now - as opposed to constantly try to tear everything down in order to win something for one's group. Looking at the last decades, it's no longer unreasonable to think we might cure things like blindness or deafness, or paralysis, in the next 100 years. But that can only happen if our technological civilization survives uninterrupted. If it spirals out of control and self-destructs, we'll be stuck in a pre-industrial age for thousands (if not hundreds of thousands) of years, until the Earth replenishes some of the easily accessible high-density energy sources we pretty much entirely mined out.
refurb 9y ago
$850K may seem like an outrageous price, but Steve Miller, CMO of Express Scripts, who has been a vocal critic of drugs prices over the years, called this price "reasonable".
sedtrader 9y ago
This is why the majority of medical breakthroughs and innovations occur in the US. Sure capitalism has its negatives, but its positive is that it provides vast financial incentives for people to create new solutions while at the same time filling a need for humanity. $850k is a hefty pricetag, but the ability to see your loved ones is priceless. Win/win for everyone involved
mannykannot 9y ago
We are going to see more of this sort of thing. The elephant in the health-care costs debate is, ironically, that we are becoming much more capable at it.
aladoc99 9y ago
Cost-effectiveness guidelines somewhat arbitrarily state that an expense of $50,000 per year of life is reasonable, since this is the estimated average annual cost of dialysis therapy. This gene therapy is sight-saving, but not lifesaving, so cost-effectiveness analysis must consider QALYs -- quality-adjusted life-years. How much is a year of blind life worth relative to a sighted year? There can be no definitive answer to this, but one guesstimate I found was 80%. Using this and the $850,000 total cost, one finds that the treatment would have to provide on average 85 sighted years to be considered cost-effective. Insurance companies could use this kind of analysis to restrict the treatment to infants.

70 points by joering2 9y ago

Is there data on how effective this is, and how the vision of those treated compares? I can’t imagine the price I’d put on a sense; nice to know you can literally get half of the price for a single eye treated.

aaavl2821 9y ago
Check this out: http://ir.sparktx.com/static-files/3f12ea2d-7f52-4ccd-93d4-c8ee7df871d2 http://ir.sparktx.com/static-files/3f12ea2d-7f52-4ccd-93d4-c... It is their corporate presentation; lots of data on the drug starting around slide 10. these are data from the clinical studies required for FDA approval. Investor presentations (for public companies) tend to have good summaries of the key data on a drug; for more info, you can read scientific publications on the drug in academic journals

candiodari 9y ago

> Only 1,000 to 2,000 people in the United States are thought to have deteriorating vision caused by this errant gene This drug will only work on, let's say 1500 people. Of those, let's optimistically say that 1/3 have insurance that will cover expensive treatment. So 500 patients can be expected to be treated by this drug per generation. So this drug will optimistically get a revenue of $500 million per 2 decades or so, or $25 million per year. The number generally thrown around for getting a new drug researched and onto the market is $200 million. So it will take 8 years just to break even (although likely front-loaded once it becomes known that this drug exists), and total revenue for this drug for the forseeable future is about 500 million. Does this seem spectacularly unreasonable ?

superquest 9y ago
No, it doesn't. It would just really suck to be one of those 1000 that have gene and can't afford the drug.
- yazaddaruvala 9y ago
  While not ideal, the drug/delivery procedure will be reverse engineered in a matter of months, and these 1000 people could get on a plane and get almost the same procedure in India/China for $8,500 instead.
- flukus 9y ago
  When does the gene kick in? Most government funded healthcare would probably see this as worthwhile if it affects people young enough, it's cheaper for the country to pay for the treatment and have a productive citizen than it is to have them on welfare for their entire life. If no one is going blind until late in life then the equation changes though.
  - prepend 9y ago
    This is an interesting line of thought. Blind people are not disabled though, they can have careers. It’s a false assumption that blind = lifetime welfare. I’ve worked with awesome programmers who were completely blind from birth. And quite a few who were legally blind. The comparison could be what the reduction in lifetime earnings due to being blind vs the $850k. But I think that having a utilitarian view toward delivering healthcare is frequently unethical once you start rationing care (eg, I’m 75 and not working at all, living off social security, $300k heart surgery is detrimental to society’s bottom line since if I die I stop collecting social security, etc etc)
    - LordKano 9y ago
      >But I think that having a utilitarian view toward delivering healthcare is frequently unethical once you start rationing care (eg, I’m 75 and not working at all, living off social security, $300k heart surgery is detrimental to society’s bottom line since if I die I stop collecting social security, etc etc) This is what so many people fear about the possibility of single payer in the US. Eventually, people will start to be pressured to see their duty to die for the benefit of society.
sjg007 9y ago
Medicaid will pay as blindness is a qualifying disability. It’s a second payer though which is why some people will go through insurance first.
- jopsen 9y ago
  Will Medicaid be around much longer? Given the upcoming deficit created by the tax "reform"..
  - sjg007 9y ago
    Yes, most likely. It is also a 50:50 funded partnership between the States and Feds. Also as we've seen things can change quickly in politics.
  - hackeraccount 9y ago
    Look, if you want to be snide then it's just as easy to say that Medicaid won't be around because expanding it to non-poor people will cause it to go broke. Either that or the desire to cut health care costs from both sides of the spectrum will cause the program to go broke.
doesnt_know 9y ago
> Does this seem spectacularly unreasonable ? Like everything I guess it depends on your political views. Personally I think it's fine if medical care and research is a massive black hole of funds that the tax payer foots the bill for...
- hycaria 9y ago
  Why ?!
  - ianai 9y ago
    Revenue seeks after profit. There are many diseases too rare to be feasible to research and develop on a cost/benefit revenue basis.
    - hycaria 9y ago
      So we should create a black hole of funds for a few people ? I don't see where the gain for society is there. Not everyone can be saved/helped, and medicines/drugs are probably too greatly overestimated now in my opinion. Also it's sad but some organisms are just not fit for some tasks (or sometimes even for life), and I don't think throwing money without any supervision or afterthought about it is a very wise answer as a society. Like, maybe we can just have blind people.
      - tincholio 9y ago
        I wonder if you'd think the same if it was your kid (or you yourself) in that position. It's easy to take the pragmatic asshole position when it's not your skin in the game. It boggles the mind that people think like this in this day and age.
        hycaria 9y ago
        It's been published a few times over the past few days that healthcare professionnals often have lower expectancies towards medicine especially during end of life etc. So I guess I would actually think the same indeed.
PeterStuer 9y ago
Your whole reasoning is based on marble counting. A better question is were the people capable of doing the research working on the right problem, or should their talents have been applied to different problems? Once there is a 'cure', of course it should be handed out to everyone that can benefit from it.
coldtea 9y ago
>The number generally thrown around for getting a new drug researched and onto the market is $200 million. How much of the number is: 1) due to BS (as opposed to useful, e.g. for safety) bureaucracy 2) padding from the pharmaceutical, just because they can?
andygates 9y ago
It only accounts for patients in the US. Expand that market (or, if it's regulatorily fiddly, pursue those patients).
adrianN 9y ago
For a drug like this that uses a completely novel technique, gene therapy, I'd say that the R&D investment can also help in the discovery of other drugs. So you'd have to adjust the figures a bit.
zimpenfish 9y ago
> $200 million Doesn't seem to stand up to scrutiny, e.g. http://blogs.sciencemag.org/pipeline/archives/2017/10/18/drug-development-costs-revisited http://blogs.sciencemag.org/pipeline/archives/2017/10/18/dru... quotes $2bn as a more reasoned number.
- Amygaz 9y ago
  Except that 1st. Sparks' stuff only cost a fraction of that to develop (closer to the $200M), and 2nd lot of the early expenses were fronted with tax payer's money.
  - sitkack 9y ago
    And it my understanding that, soon gene therapy will be selecting which bits to flip and flipping them. It still needs testing, feedback, etc, but it isn't the same as going through a full development cycle. Am I wrong?
conanbatt 9y ago
Whats unreasonable are the research costs. I would look into that.
hackeraccount 9y ago
As is reported down thread it might be reasonable or not but some of the assumptions are open to question. It's not unreasonable to suspect that Medicaid will cover the benefit. Also The number of people would just include the U.S. presumably the drug would be sold world wide.
- testvox 9y ago
  But the rest of the world doesn't recognize FDA approval (and the FDA doesn't recognize any other country's approval process). So the cost of certification has to be paid again for every country its sold in.

tudorw 9y ago

"Clinical data shows that the drug works at[sic] up to four years in some patients" "a partial refund if the drug does not work in the first three months" So is it $850,000 every four years ?

refurb 9y ago
We don't know. I assume the 4 years came from the clinical trial (I.e. Patients were followed for 4 years).
Amygaz 9y ago
The longest study I've seen suggested at least 10y in long-lived cells. Technically it should last as long as the cell last. In the case of nerve cells, such as retinal cells, this should be as long as you live.

bufferoverflow 9y ago

I predict someone will figure out how to edit the genes the same way with off-the-shelf kits within a year or two and will publish it for free.

comstock 9y ago
Personally I somehow doubt this (in this case). The disease effects a small number of people (1 in 4000), and doesn’t cause complete blindness in all those effected. It’s delivered in a viral vector, kind of not so easy to do yourselves I’d guess. Probably the easiest way would be to get hold of some and culture the virus yourself? Then just make as much as you want. Still injecting something made without strict QC into your eye might not be so appealing.
- Y7ZCQtNo39 9y ago
  These risks make it obvious why an "at home" solution is highly unlikely to come to fruition. You want to be putting enterprise-grade things into your eye. The only way you'd be able to guarantee that is to source the treatment through traditional channels.
- bufferoverflow 9y ago
  https://www.fastcompany.com/40477808/genetic-modification-is-just-an-injection-away-if-youre-feeling-lucky https://www.fastcompany.com/40477808/genetic-modification-is...
  - comstock 9y ago
    The article is well written and interesting. The kit looks fun, but I don’t think it as (easily) be used to replicate this work, it’s just too different. The issues mentioned in the article also apply.

comstock 9y ago

The story is about the pricing, but the drug itself was more interesting to me: https://en.m.wikipedia.org/wiki/Voretigene_neparvovec https://en.m.wikipedia.org/wiki/Voretigene_neparvovec It’s a gene therapy delivered in a viral vector. They inject it (into your eye which much be fun). It appears to be one of the first approved gene therapies.

stuaxo 9y ago
Could something similar be injected into you're eye and turn it into a different kind of eye ?
- comstock 9y ago
  They’ve cured color blindness with gene therapies already. It’s likely possible that you could add receptors for more wavelengths. It just doesn’t seem to be commercially viable (colorblind-ness therapy was never persued because risk/reward/commercial aspects don’t work out IIRC).
- deleted 9y ago
  [deleted]
- codeisawesome 9y ago
  This might be limited by what the sum total real capability is of the entire vision system. An eye that can receive extra wavelengths is useless without the Neurons that can perceive and project into our conscious mind. To imagine injecting viruses that will change the genetics of the brain is a major leap of discomfort.
  - fab1an 9y ago
    >An eye that can receive extra wavelengths is useless without the Neurons that can perceive and project into our conscious mind. Not necessarily. For example, consider that neurons in our auditory cortex aren't different from neurons in our visual cortex! What is different about them (and the "subsequent" perceptual/conscious level) is that they receive different inputs, and have learned the systematicity of how these inputs behave in relation to the body's own actions. This is related to the "Sensorimotor Contigency" theory of consciousness [1], which would predict that it should in fact be possible to process entirely different types of sensory input, given long enough exposure and a clear systematicity of the input signal. [1] http://www.scholarpedia.org/article/Sensorimotor_theory_of_consciousness http://www.scholarpedia.org/article/Sensorimotor_theory_of_c...

wozmirek 9y ago

Just wondering, why there's no mention of this being free, i.e. 100% government funded. Something like this essentially transforms somebody's life, allowing him/her to work, not being reliant on others etc. Not to mention the (oh, sadly) not quantifiable humanitarian reasons.

stingraycharles 9y ago
Because it's a slippery slope. You can always argue that a blind person is able to work in some way (callcenter, software dev, etc), and/or you can argue the same for other diseases. Where do you draw the line ? That argument aside, I am of the opinion that all healthcare should (eventually) be free so that arguments like these become moot.
- kungito 9y ago
  This opinion comes around often and what bothers me a bit is this "free" in free healthcare. There is no such thing. Eventually the money for the people and things has to come from somewhere. The conversation is often about how do some EU countries have free healthcare and US doesn't. The answer is higher taxes, longer waiting lists, lower quality, no support for extreme cases and low accountability. "Free healthcare" countries often cannot afford these modern cutting edge treatments so people often end up leaving for US to pay for the treatment themselves. If US didn't have such a brutal healthcare system then who would do the research since the "free healthcare" countries cannot afford it?
  - albertgoeswoof 9y ago
    Healthcare is essential. Either you pay for the healthcare through taxes, or society does in some other way. The some other way that the US has implemented is to put layers bureaucracy of insurance and artificial "market choices" on top of the care, which removes all inefficiencies and inflates the cost dramatically. Of course the alternative is to leave people with health conditions out on the street and just ignore them, which does seem to be a common occurrence in the US
- 9y ago

codeulike 9y ago

So Luxturna is a DNA sequence embedded in the AAV2 virus (https://en.wikipedia.org/wiki/Voretigene_neparvovec https://en.wikipedia.org/wiki/Voretigene_neparvovec). It seems like they modified the Kozac (header, basically) of the DNA slightly (see Wikipedia). But essentially what they're doing is injecting the 'correct' DNA sequence into people with a biallelic (both copies) mutation on the RPE65 gene. The AAV2 virus is there as a delivery mechanism to get the DNA into the cells more efficiently. The injected DNA then hangs around (loose, I think) in the cell and will get read and the correct proteins get manufactured even though the patients main copies of the gene are faulty. The virus bit might be hard to do, and maybe editing the header of it. I'm not sure. I guess that probably is quite hard. But manufacturing DNA and injecting it is fairly trivial, as in this guy with a PhD and a small lab was able to do it for about $400. There are biotech companies who will just make the DNA for you. https://www.theguardian.com/science/2017/dec/24/josiah-zayner-diy-gene-editing-therapy-crispr-interview https://www.theguardian.com/science/2017/dec/24/josiah-zayne... ... this was using CRISPR which is like a DNA find/replace, so in some ways more sophisticated than the way Luxturna works. I'm not saying anything about the price of this treatment per se, obviously a load of R+D and regulatory ballet had to be done here, but just saying the basic building blocks of some gene therapies are quite a bit cheaper than I imagined.

zimpenfish 9y ago
Although the opinion of real biologists seems to be that Zayner is a snake oil peddling hack who doesn't know what he's doing. e.g. https://freethoughtblogs.com/pharyngula/2017/10/14/i-could-use-bigger-muscles-but-im-not-going-to-get-them-with-biotech-in-my-garage/ https://freethoughtblogs.com/pharyngula/2017/10/14/i-could-u...
- deleted 9y ago
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- codeulike 9y ago
  That guy misunderstands the point of Zayners stunt, and also misunderstands the kits that Zayner sells (they are kits for using crispr on yeast in a Petri dish). Zayner acknowledges that his arm injection stunt is likely very inefficient. Still I'm not going to defend Zayner, he probably is a bit of a dick. But the point is that you can modify the DNA of at least a small number of your own cells in a rough untargeted way for about $400. That's quite surprising. Makes you wonder what might be going on behind closed doors elsewhere. edit: Here's Zayner's write up of his stunt: http://www.ifyoudontknownowyaknow.com/2017/10/the-first-human-to-attempt-crispr-gene.html http://www.ifyoudontknownowyaknow.com/2017/10/the-first-huma... (possibly dodgy ads, adblock recommended)

YeGoblynQueenne 9y ago

Science and technology make the world a better place - for those who can afford it. The rest can go get stuffed. I remember an old psychological test where you were presented with a scenario where a member of your family is sick and while there exists a drug that can cure them, you cannot afford it. You're given the option to break into the local pharmacy and steal the drug- and asked whether you would do it. The way you answer the question is an indication of your moral development stage. If I remember correctly, the idea is that the most morally developed individuals will decide that stealing the drug is not moral, that if everyone stole what they needed without regard to the interests of the original proprietor, there would be anarchy and society would collapse. So on the whole, the moral decision is to not steal the drug, even when your relative needs it. Well, if society allows a life-saving drug (or, indeed, a blindness-curing treatment) to be unaffordable to those who need it, then that's already a society that is not serving its members' interests. What the hell do I care if society can support science advanced enough that it can cure blindness, if it won't cure my blindness? I'm expected to do the moral thing and sit nicely and not rock the boat- but others are not expected to help me, in my need? Bugger that for a game of soldiers! A society that leaves people blind when it can cure them is just as useless as one that burns. So let it burn. I'd steal that drug in a heartbeat. Oh btw- in another article about this miracle cure, I read the ridiculous claim that blindness will cost a person about $1million in their lifetime, so the $850k price tag is justified. I don't see this claim in this article, but it just goes to show what some may consider "fairness": "blindness robbed you of $1million, now we're gonna take another".

greenpresident 9y ago
https://en.m.wikipedia.org/wiki/Heinz_dilemma https://en.m.wikipedia.org/wiki/Heinz_dilemma The Heinz Dilemma is not evaluated based on your decision but (as you correctly note in passing) based on your reasoning.
- YeGoblynQueenne 9y ago
  Cheers. I was misremembering something about a Hans.
9y ago

jstanley 9y ago

If someone gets treated with this therapy, and then has children, will the children inherit the parent's original gene or the repaired gene?

refurb 9y ago
No. The genetic alteration is limited to the person who receives the therapy. Reproductive cells aren't affected.
- Amygaz 9y ago
  I mostly agree with that, with the caveat that it could... The part where it doesn't: AAVs do not integrate their DNA into the host genome, not by themselves at least. They form latent infections, which will persist until the cell divides or die. However, the part where they could: AAVs can infect any type of cells, including germline cells. While they persist, if the cell becomes infected with an Adeno or Herpes virus, which can also infect a broad range of cells, then they could integrate into the host genome, including germline cells.
- jstanley 9y ago
  So if you have this, at a cost of $850k, is it then unethical to have children, knowing that there's a high chance that they'll subsequently have to pay $850k in order to be able to see? I suppose, more generally, even in the absence of an $850k fix, if you have genetic blindness, is it unethical to have children?
  - JoeAltmaier 9y ago
    Not in our current human society, where new cures are invented every week. Its no longer a life sentence for your children; its a temporary setback.
    - TeMPOraL 9y ago
      This is what I came to believe too, and it's yet another reason why I believe the highest priority for the society is to stabilize what we have now - as opposed to constantly try to tear everything down in order to win something for one's group. Looking at the last decades, it's no longer unreasonable to think we might cure things like blindness or deafness, or paralysis, in the next 100 years. But that can only happen if our technological civilization survives uninterrupted. If it spirals out of control and self-destructs, we'll be stuck in a pre-industrial age for thousands (if not hundreds of thousands) of years, until the Earth replenishes some of the easily accessible high-density energy sources we pretty much entirely mined out.

refurb 9y ago

$850K may seem like an outrageous price, but Steve Miller, CMO of Express Scripts, who has been a vocal critic of drugs prices over the years, called this price "reasonable".

sedtrader 9y ago

This is why the majority of medical breakthroughs and innovations occur in the US. Sure capitalism has its negatives, but its positive is that it provides vast financial incentives for people to create new solutions while at the same time filling a need for humanity. $850k is a hefty pricetag, but the ability to see your loved ones is priceless. Win/win for everyone involved

mannykannot 9y ago

We are going to see more of this sort of thing. The elephant in the health-care costs debate is, ironically, that we are becoming much more capable at it.

aladoc99 9y ago

Cost-effectiveness guidelines somewhat arbitrarily state that an expense of $50,000 per year of life is reasonable, since this is the estimated average annual cost of dialysis therapy. This gene therapy is sight-saving, but not lifesaving, so cost-effectiveness analysis must consider QALYs -- quality-adjusted life-years. How much is a year of blind life worth relative to a sighted year? There can be no definitive answer to this, but one guesstimate I found was 80%. Using this and the $850,000 total cost, one finds that the treatment would have to provide on average 85 sighted years to be considered cost-effective. Insurance companies could use this kind of analysis to restrict the treatment to infants.