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Couple pay >$800k for a gene-editing therapy for their daughter. She died.

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Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#201

Post by qsera »

spwa4 wrote: post #199
qsera wrote: post #194

Earlier quoted context omitted.

>you bet there are 10x and 0.1x doctors But sadly, with doctors, someone who provides 10x value to the patient might not be the same ones that provide 10x value to the Hospitals that employ them. Which means real 10x doctors might be less and less visible. At least in software, you don't need a certificate or association with an institution to practice the trade. So you can be self employeed while free to deliver 10x…

Also keep in mind that you get hip replacement surgery because of constant, quite intense, pain. The doctors obviously also talked to the patient and he or she obviously felt that just reducing the pain was worth the risk (because a replacement hip will still be long-term painful, so it's an improvement, not a solution. This will have been discussed extensively with the patient) ... Or the patient may even have felt…

Quite frankly, no one expects that and that is not where the disappointment comes from.

The disappointment comes from the fact that doctors are mostly clueless and follow checklists, and thus prescribes measures without having a deep understanding (or interest even) of the situation.

Why? Because these people (doctors) were never curious to begin with. 99% of the never cared to understand biology before they started Medical school. They are only in for the $$$ and status. And I will never trust a doctor, or even a programmer who is not curious about the specific situation or the problem that I am having. And such people are becoming rarer and rarer to find...

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#202

Post by vibrio »

fgimenez wrote: post #183
maxall4 wrote: post #58

I'm honestly quite shocked that the physicians/scientists involved would choose to use an AAV for a brain-targeted gene therapy. There is just so much data demonstrating that these vectors are quite immunoreactive: most of the approved gene therapies based on AAVs carry black box labels for liver failure caused by an immune reaction to the viral capsid. Admittedly, AAVs are the most derisked vector for gene therapies…

[Note that I work in this field and have co-founded a CNS AAV company] This isn't the correct takeaway. AAV are one of the most complex drug modalities and carry considerable risk when used incorrectly. This story is tragic and violates pretty much every ethical consideration for a clinician researcher. Especially ones that are treating children of desperate parents. That said, AAV are one of the most powerful delive…

I agree with you that AAV is clearly a useful tool but at times the low levels of self discipline and scientific rigor that the field has applied to dosing is disappointing at best and scary at times. This includes use of other vector types such as by bluebirdbio and even the Jesse Gelsinger tragedy. “If a little is good then more is better” is a crazy and lazy way to apply and optimize these technologies.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#203

Post by senderista »

genericresponse wrote: post #119
senderista wrote: post #76

Many years ago I was attending pre-surgery for a hip replacement surgery for my sister, who had known severe reactions to anesthesia (actually required a tracheotomy for a previous reaction). The anesthesiologist asked to speak to us privately and informed us that in their opinion, my sister had maybe a 1/3 chance of not surviving the surgery. They also mentioned that this was a breach of protocol and they could get…

This seems very unusual on many, many levels. I hate to ask, but were you a child when this happened? If so, are you sure you were in all the conversations. First- There are less than 600 total hip replacements conducted each year on children in the United States. Second- It would be unusual for this surgery to be even recommended without something serious being addressed. Third- Failure to discuss risks and tradeoff…

I was just out of college and I believe I was involved in all conversations with the care team. My sister suffered from a rare congenital condition (MPS, Morquio syndrome) which among myriad other complications involved arthritis in the hips. (Something I didn't mention is that she was expected to live less than a decade after the surgery, which proved roughly accurate.) The surgeon was willing to discuss risk vs. benefit (although absolutely not quantitatively), but only after we brought it up after the anesthesiologist approached us. It was never discussed beforehand, to the best of my recollection.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#204

Post by senderista »

tomcam wrote: post #160
senderista wrote: post #76

Many years ago I was attending pre-surgery for a hip replacement surgery for my sister, who had known severe reactions to anesthesia (actually required a tracheotomy for a previous reaction). The anesthesiologist asked to speak to us privately and informed us that in their opinion, my sister had maybe a 1/3 chance of not surviving the surgery. They also mentioned that this was a breach of protocol and they could get…

> Keep in mind that nobody on the care team had previously discussed any risk or indeed any tradeoffs whatsoever. This was at one of the best-regarded children's hospitals in the USA. I bet you live in the Seattle area. Similar experience with my daughter.

You are correct.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#205

Post by rendaw »

ElProlactin wrote: post #67
ndiddy wrote: post #56

Earlier quoted context omitted.

He's pretty clearly a monster or at least monster adjacent. He and his team * Took hundreds of thousands of dollars under the table to develop the treatment * Neglected to take steps that would determine whether the treatment was safe to use on humans * Didn't inform the family that the treatment could possibly kill their daughter * After the treatment did kill their daughter, he published the study anyway except str…

> Didn't inform the family that the treatment could possibly kill their daughter From the article: > The parents had heard about serious side effects, including deaths , caused by other gene therapies, and knew the greatest risk would be Mei’s immune response to the massive dose of virus. Qiu said getting the dose right was critical, but infusing the viruses directly into Mei’s spinal fluid, rather than the blood, wo…

The second part of the quote yes, but

> serious side effects, including deaths, caused by other gene therapies

That sounds like they were informed of risks for other therapies, not this one.

And TBH that framing is still suspect: if someone told me that the greatest risk was immune response and we have a way to minimize it, I'd take that to mean it's safe. That's not the right conclusion, but that's what most people would get from the phrasing. This is "how to lie with statistics". Maybe they were told something else though.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#206

Post by senderista »

esikich wrote: post #102
senderista wrote: post #76

Many years ago I was attending pre-surgery for a hip replacement surgery for my sister, who had known severe reactions to anesthesia (actually required a tracheotomy for a previous reaction). The anesthesiologist asked to speak to us privately and informed us that in their opinion, my sister had maybe a 1/3 chance of not surviving the surgery. They also mentioned that this was a breach of protocol and they could get…

I don't believe this for a second. The anesthesiologist is obligated to tell them this, they meet and discuss this kind of thing with the family/patient. It isn't a breach of protocol, the doctor and surgeon would also have been informed and would have relayed as well. Fear mongering bullshit.

I can confirm it with my mother, but this is what happened to the best of my recollection. You can fuck right off with your accusation that I am fabricating this story.

For reference, this happened about 20 years ago.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#207

Post by kashunstva »

qsera wrote: post #201
spwa4 wrote: post #199

Earlier quoted context omitted.

Also keep in mind that you get hip replacement surgery because of constant, quite intense, pain. The doctors obviously also talked to the patient and he or she obviously felt that just reducing the pain was worth the risk (because a replacement hip will still be long-term painful, so it's an improvement, not a solution. This will have been discussed extensively with the patient) ... Or the patient may even have felt…

Quite frankly, no one expects that and that is not where the disappointment comes from. The disappointment comes from the fact that doctors are mostly clueless and follow checklists, and thus prescribes measures without having a deep understanding (or interest even) of the situation. Why? Because these people (doctors) were never curious to begin with. 99% of the never cared to understand biology before they started…

> 99% of the never cared to understand biology before they started Medical school. They are only in for the $$$ and status

This is a very cynical take on the subject and I can’t imagine it’s backed by any data. As a retired medical doctor, my observation differs; idealism and curiosity appear to me far more common among medical trainees than you give credit. I spent my entire career in teaching hospitals. I do despise the ostentatious display of amassed wealth among some doctors; but wouldn’t take a general message about the profession from that.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#208

Post by ares623 »

fabian2k wrote: post #2

There's so many ethical problems with the events as described in the article. The worst to me seems to be that the researchers/doctors seem to have downplayed the risks here. Which for a never before tried gene therapy that is meant to work inside the brain are absolutely enormous. The ethical issues around the money seem minor in comparison with that and the fact that they seem to have ignored similar side effects i…

In Silicon Valley this is considered a successful learning experience.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#209

Post by mft_ »

altairprime wrote: post #171
mft_ wrote: post #115

Earlier quoted context omitted.

> * Took hundreds of thousands of dollars under the table to develop the treatment I'm in two minds about this. On the one hand, at face value the funding and payments seem dubious - especially with the mention of one of the doctors returning his payments, suggesting they were for his personal enrichment, rather than payment for the costs of the treatment development and trial. On the other hand, the parents were lit…

Her distinctiveness has been added the collective. That's what experimental medicine is for! So if you approach this story from an amoral "ethics-free" standpoint (which is easy for me but, thankfully, difficult for most) their money has technically benefited human science, however problematic the circumstances. I have some serious glee at seeing the quantity of moral output being generated in this discussion. HN's c…

> So if you approach this story from an amoral "ethics-free" standpoint (which is easy for me but, thankfully, difficult for most) their money has technically benefited human science, however problematic the circumstances.

I'd argue it's marginal. For some sort of scientific benefit, at least, new knowledge (e.g. what to do or what not to do) is needed.

* For the experts involved, the approach, while novel in historical terms, was application of known techniques. Further, to prove the treatment, they'd have needed a positive outcome, which sadly wasn't the case. So, some technical benefit here, but hindered by the negative outcome (and the possible retraction of the paper).

* They haven't really learned much more about what not to do, as some of the major criticisms of the study were that because of the approach taken and (arguably) the corners cut, it was predictably dangerous. Again, all of this was known - it was the failure to apply established principles that was the problem.

* It appears that (apart from this article) no details of the exact case have been released. A thorough write-up of the science and the clinical study would possibly add some benefit to science, but that's not been done.

Re: Couple pay >$800k for a gene-editing therapy for their daughter. She died.

#210

Post by nubg »

dghlsakjg wrote: post #30
nubg wrote: post #17

> The young girl tugged on her mother’s hand as they pressed through the doors of the hospital in Shanghai. She was 6 years old, bouncing along in a pink jacket and blue pants decorated with cartoon bears. Behind them, her father rolled a large suitcase with everything the child needed for the weeklong stay: stuffed animals, Play-Doh, an iPad loaded with episodes of Peppa Pig. What's this style of "journalism" (time-…

It’s called long form feature writing. Many, many people enjoy it and do not want it exterminated. It’s a way to humanize and add emotion to complex topics. If you want, many outlets have bland straightforward bullet point articles. Try Axios. Reading articles posted on HN is optional as are most things on the internet. If you don’t like the style in the first paragraph, stop reading. Getting fewer eyeballs on an art…

But it's hallucinated slop? (by a human)

Is this literally true "bouncing along in a pink jacket and blue pants decorated with cartoon bears"?

or just what the author thought the scene could have looked like?

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