There's a compound in trials right now that has shown tremendous promise in my son's cells in the lab and in the cells of other NGLY1 patients.
But, we can't get permission to give it to him, and setting up a clinical trial for NGLY1 keeps getting ever-more delayed because of concern over the FDA.
Meanwhile, our children suffer.
I'm very worried that some are going to die before this clinical trial gets underway.
(Incidentally, Bertrand and I got to meet Bill Gahl while admitted at the NIH for a week-long research protocol that will systematically study all known NGLY1 patients.)
Have you considered making it yourself without permission?
Suppose for a moment that there exists a sequence of tests that you feel would adequately prove the safety or efficacy of a homebrew solution. Obviously, at least some sequence of tests must exist that seems pretty okay since the clinical trials have somewhat trustworthy results.
The actual cost of enzyme production (actually, I haven't studied the solution that would be going through clinical trails in detail) can be much lower than the $X billion that Big Pharma claims. For example, $50k can get you a basic antibody garage biology operation going, without cutting corners absolutely everywhere. I know a handful of people with equipment and expertise eager to prove this.
After all, your original mission wasn't "fighting regulatory hurdles". Successful FDA clinical trials are nice, but not if everyone dies while busy waiting to raise $100M to resubmit FDA forms.
edit: Looks like you found a place to buy a batch for $250? Be safe.
It is possible to formulate something chemically similar for not much money in your kitchen. Most people with CF are plenty familiar with keeping things sterile.
There's a compound in trials right now that has shown tremendous promise in my son's cells in the lab and in the cells of other NGLY1 patients.
But, we can't get permission to give it to him, and setting up a clinical trial for NGLY1 keeps getting ever-more delayed because of concern over the FDA.
Meanwhile, our children suffer.
I'm very worried that some are going to die before this clinical trial gets underway.
(Incidentally, Bertrand and I got to meet Bill Gahl while admitted at the NIH for a week-long research protocol that will systematically study all known NGLY1 patients.)