Hacker News Board Hacker News, browsed like a classic message board
Live data from Hacker News

First UK child to receive gene therapy for fatal genetic disorder is now healthy

livescience.com

Post reply on HN
Print view View original

101–110 of 199 posts

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#101

Post by cwillu »

jiggawatts wrote: post #71
timerol wrote: post #50

Earlier quoted context omitted.

Here's the study: https://www.ncpe.ie/wp-content/uploads/2021/04/Libmeldy-Bene... It's worth mentioning that the study in Ireland indicates that the treatment extends life by 14.49 QALYs (average "Total Life-years" moved from 8.92 to 22.74), which is a long way from a cure. If this is truly a cure, and the treated population lives a full life (life expectancy in Ireland is current 82 years, not 23), then this treatme…

They can't possibly know that the drug extends life to "22.74" years, because it has only been approved for use for the last 3 years! This is like asking for 30 years of Kubernetes experience on a job application. Even if the estimate is accurate, there is a massive qualitative difference between slowly dying horribly for 'x' years and living a normal life for 'y' years. You can't just subtract 'x' from 'y' and come…

> Even if the estimate is accurate, there is a massive qualitative difference between slowly dying horribly for 'x' years and living a normal life for 'y' years.

If only there was a measure that was adjusted for the quality of the year. Some sort of quality-adjusted life year.

Yes, it's not a perfect measure (how could any quantitative measure of a qualitative thing be perfect?).

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#103

Post by linuxftw »

gambiting wrote: post #66
linuxftw wrote: post #57

Earlier quoted context omitted.

That would imply that people are dying right now due to NHS rationing resources, which NHS will never admit to.

Well no, but it could be used to(for example) shorten the ambulance waiting time, and that alone would save more than 1600 people.

If people are dying because of ambulance waiting time, then it sounds like the care is being rationed to me.

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#104

Post by tialaramex »

meese712 wrote: post #77
piyh wrote: post #73

Earlier quoted context omitted.

Most recipients don't need to take immunosuppressants at all if they get PBSC or bone marrow transplants. Even if they do, it's short term. Additionally, the allo grafts need to be matched, which if you're non white is not a good success rate. 85%ish of whites get matched, that number gets depressingly low for minorites. On the US registry, only 1 in 400 donors get called. I happen to be one of those donors and a sys…

I was getting at the article giving the impression this somehow cured the disease vs a BMT just slowing progression. I know the whole transplant thing sucks. I've had two transplants, thank you for being on the list :).

The article indicates they don't know. "it is not yet clear whether it will persist life-long, and extended follow-up is needed" - So they can be optimistic without knowing for sure because they don't have a bunch of kids they treated say ten years ago to check on. It seems like this might stick, they hope it will, they can't know yet.

One of my friends gave his wife a kidney which allowed her to get off dialysis, so yeah, thanks to anybody who is willing to do this for someone they don't even know.

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#105

Post by autoexec »

lazyasciiart wrote: post #51
ifdefdebug wrote: post #47

Earlier quoted context omitted.

Utilitarian cynism at its best. The humanitarian approach is to save that one live AND improve the other 100 as well. We can afford to do so, because those expensive cases are rare.

They really aren't that rare, and the reason we don't help all of them is not because of a utilitarian decision not to spend money on public healthcare. If you can get your humanitarianism to move that money from corn subsidies and fighter jets to health spending, more power to you.

> They really aren't that rare,

3,100 cases a year in all of Europe, and 3,600 cases a year in the entire US. That's pretty damn rare really. And it's a genetic condition, which means we should be working to eradicate the problem entirely by screening parents and gene editing ideally making it both rare and increasingly rare from here out.

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#106

Post by bcrosby95 »

sho_hn wrote: post #6
jiggawatts wrote: post #5

https://en.m.wikipedia.org/wiki/Atidarsagene_autotemcel > The National Centre for Pharmacoeconomics (NCPE) in Ireland recommends "that atidarsagene autotemcel not be considered for reimbursement unless cost effectiveness can be improved relative to existing treatment." Wow… instead of a lifesaving cure they recommend the treatment of the symptoms until the kid dies because it’s cheaper .

People are often surprised by this, but healthcare and insurance systems assign an explicit numerical value to human lives and run with it all the time. https://en.wikipedia.org/wiki/Value_of_life

Anything dealing with human lives needs to assign a value to it. You don't want to spend $100 billion on something that's just gonna save 1 person. But spending $100 on something that's gonna save 1 person is something pretty much everyone is fine with.

Somewhere in the middle is where most people disagree.

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#107

Post by jonfromsf »

jimbob45 wrote: post #97
piyh wrote: post #73

Earlier quoted context omitted.

Most recipients don't need to take immunosuppressants at all if they get PBSC or bone marrow transplants. Even if they do, it's short term. Additionally, the allo grafts need to be matched, which if you're non white is not a good success rate. 85%ish of whites get matched, that number gets depressingly low for minorites. On the US registry, only 1 in 400 donors get called. I happen to be one of those donors and a sys…

What’s the story with minorities? Just a smaller pool of donors or something?

Yes, a smaller pool of donors. Worst still for finding matches is multi-racial people.

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#108

Post by ec109685 »

kiba wrote: post #68
gambiting wrote: post #29

Earlier quoted context omitted.

The problem is, as always, with allocation of resources. If you are running NHS budgets and these treatments cost £1M each(we don't know what price was agreed in the end, but let's say it's £1M per treatment), that's £1.6 billion to treat 1600 kids. £1.6 billion is a lot of money that can save a lot of more than 1600 people if used for other therapies. It's a horrible choice to make of course, but it's the reality of…

That assume the technology never gets cheaper over time. I would hope it gets better over time as we cure more and more rare diseases.

The price is set to maximize profit. Given so few will benefit, they made the price high since demand is inelastic (up to a point).

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#109

Post by mlyle »

concordDance wrote: post #99
piyh wrote: post #73

Earlier quoted context omitted.

Most recipients don't need to take immunosuppressants at all if they get PBSC or bone marrow transplants. Even if they do, it's short term. Additionally, the allo grafts need to be matched, which if you're non white is not a good success rate. 85%ish of whites get matched, that number gets depressingly low for minorites. On the US registry, only 1 in 400 donors get called. I happen to be one of those donors and a sys…

> 85%ish of whites get matched, that number gets depressingly low for minorites. Hmm... How does this translate to other places? E.g. can you only match Han in China? Do Italians and Scots match? Turks and Egyptians?

A big part of the problem is that minorities are not reached/enrolled onto the registry at a high rate.

What matters isn't really the proportion of the subpopulations that are registered, but the absolute numbers.

Re: First UK child to receive gene therapy for fatal genetic disorder is now healthy

#110

Post by ec109685 »

TulliusCicero wrote: post #83

> Teddi and her sister Nala, age 3, were both diagnosed with MLD in April 2022, according to the NHS. Unfortunately, Nala was not eligible for Libmeldy because she'd already developed symptoms of the disorder. Holy shit. My god, I'm just thinking of the parents. "Sorry, we can only save one of your kids." "You can't give Nala the treatment?" "Well, we could . We won't, though." I'm sure there are good reasons, but Je…

It sounds like it’s not effective if it’s given too late.
Post reply on HN