People are gatekeeping resources that would enable access to treatment because for big companies, spending $1 to earn $1 isn’t a sustainable business model.
If on the other hand, a solution for his problem does exist and is simply not available, I don't see how that makes sense. Why wouldn't it be sold if it were available?
Presumably, curing a genetic disorder for a very small number of people using existing technology is low risk and low reward.
> Why wouldn't it be sold if it were available?
Just because something works in a small lab doesn’t mean it’s ready to sell. To launch a product, companies need to do a lot more: testing, certifications, licenses, marketing, training, and more. Sometimes, even when a product is finished, companies decide not to launch it if their budget or priorities shift elsewhere.
A related example could be unreleased movies like Batgirl Or Coyote vs. Acme. The films were completed, but they felt their marketing dollars would be better spent on other projects.
At the present state of medical understanding, in vivo gene therapy is not low risk, just from a financial perspective, leaving aside the medical risks.
In 2017 the FDA approved Luxterna, the first in vivo gene therapy treatment (it had an original list price of 425,000/eye). It fixed RPE65 associated Retinitis Pigmentosa. This spring J&J announced that their LUMEOS trial had missed its primary endpoint, even though it was basically treating the exact same disease, in the same way, just a different gene (RPGR). But only 22 of the 55 treated patients showed improvements on at least two of their measures, and there was no statistically significant improvement on their primary measure. So this stuff is still very much a financial risk, because we simply don't understand human bodies well enough to predict outcomes in a RCT for gene therapy. And if you have to do a Phase III trial to know whether it works or not, then you are going to be forced to spend a whole lot of money to bring any gene therapy to the market.
I don't know if that presumption is reasonable. Yes, low reward; but I suspect the risk/cost for a gene therapy is about the same, regardless of the number of people affected. You still need to do all the pre-human trials, which are still expensive; then you've got to do human trials, which are still expensive ... and if there aren't enough potential patients, you might not even be able to run a reasonable trial. (although the article describes a situation of a single patient treatment, you obviously can't run a human trial of that). IMHO, that makes it higher risk than targeting something that affects many more people.
Weird comment thread. Not bad, just surprises me.
