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.

Depending on what you want to do, it can be way less than that. For Cystic Fibrosis, the FDA denied inhaled mannitol, a dry powder, due to lung bleeds in trials. http://www.familypracticenews.com/single-article/fda-panel-v...

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.

It's a murky moral calculus.

I don't exactly fault the FDA though, because if someone is diligent, they will almost definitely get their hands on the drugs through whatever means, illegal or otherwise.

I overheard a MD tell his best friend how to overcome a serious illness, "The Doctor/Friend said you need to believe the treatment will work." I knew the Doctor was trying to invoke the Placebo Effect, but I felt it was the best advise I ever heard from a Doctor. (I know this child's illness is genetic and I hope the company includes his child in early trials--maybe we can email the FDA?)

There are a lot of things that make it tough for drug companies to provide drug for compassionate use (before FDA approval). Often early on manufacturing hasn't been developed enough to make large quantities of drug. If they give drug to everyone who asks for it, they won't have enough to run their trials. What is the impact of that?