Matt: I'm on temporary hiatus from science work and have a lot of flexible free time, and am located in San Diego, where I know some of the work has been done. If there's a lab that has access to relevant cell lines, I'm willing to do a bit of work here and there on a volunteer basis to try and explore a therapeutic strategy, have some ideas to quickly ascertain if the chemical chaperone route is wise or not, especially if they have a working assay going.
N-Glycanase 1 plays an important role in deglycosylating misfolded proteins, allowing them to be recycled into their constituent amino acids.
Bertrand's cells appear to be accumulating misfolded glycoproteins.
And I went back to my own research notes. And basically, even if you can't yet fix the defect, you can probably improve the cell ph balance and salt/mineral balance to reduce the incidence of misfolds. Since the issue here is that Bertrand's cells cannot take out the garbage, preventing the accumulation of garbage would help reduce symptoms. (And this is the essence of how I have reversed a lot of my symptoms: I initially thought I would be on high levels of supplements for life but correcting the cell chemistry has put a stop to the "normal progression of CF" and maintaining good health has turned out to be way easier than the battle to get here. YMMV, and probably will. For Bertrand, this is more of a stop-gap measure.)
Anyway, I thought I would toss that out there as something you might consider looking at -- as something that might get immediate therapeutic results, well before the FDA etc will ever approve anything likely to fix the genes.
Sanford Burnham is in San Diego and is the leading lab for NGLY1. All of the cell lines for all of the patients are there. Dr. Freeze has a variety of assays related to NGLY1 available.
It's really amazing to watch things like this happen. I wish I knew something I could do to help, but the closest I can come is having used Pygr exactly once.
Contact info is in my profile.