PIGN Research Project Update

I wanted to share an exciting update regarding the PIGN drug repurposing project. I shared about the project previously on the blog here. For those unfamiliar, the quick explanation is that our PIGN community is fundraising to do the scientific work to determine if any existing drugs can be used to treat those with PIGN-CDG. It's a long, expensive process, but this scientific method has been successful with other illnesses or disorders, including very promising results with another type of CDG. Essentially, it's the best hope we have for any type of true treatment for PIGN in the foreseeable future.

To do this research, 10 genetic variants were selected to build yeast avatars to test against existing medications. These variants represented a wide range of the known PIGN defects and were selected to represent a wide range of defects and because they were easily modeled in yeast cells. We knew Teddy's variant wouldn't be selected because it's not easily replicated due to part of his variant being a splice site, meaning his gene split apart and reattached in the wrong place. (Whoops, he inherited that from me.)

Additional variants were selected to be part of a second phase of research. That group of variants will be used to test the drugs selected against human cells, as opposed to yeast avatars. Teddy was selected to be a part of this research group, as it's simply growing cultures of his cells to test the different medications.

This meant Teddy needed a skin biopsy done. He's had this procedure done several years ago, as part of his NIH natural histories study, but he was sedated because other tests were done at that time. This time required several weeks of coordination with Mayo Clinic and local providers leading up to the actual appointment.

He had his biopsy done Monday, and it went remarkably well all things considered. (All things include the fact that it required 3 of us to restrain him while the puncture was done, and there's a whole separate saga about hives, urgent care visits and the like that occurred later in the day.) 

Teddy had a lot of opinions on where I should sit throughout his appointment.

So his sample is being sent to Mayo Clinic for storage. His cells will be replicated in laboratories to test against different medications. The goal is to see if a medication that works well in multiple yeast avatars works well in the human cells, along with testing a wider range of mutations. (Unfortunately unlike something like Down's syndrome where the mutation is universal, CDG-PIGN encompasses a wide range of mutations, many similar but relatively few completely identical.)

While it was tough to have Teddy endure a skin biopsy that's technically not needed for diagnosis or treatment at this time, we recognize this act can benefit not only potentially Teddy but hundreds of other families with this disorder down the road. It's a small sacrifice to benefit the greater good. (And as we already lost another one of our PIGN kiddos this year ... it's January 18 ... it's the least we can do.)

We'll be continuing to fundraise as science isn't cheap, and this is very much a grassroots campaign done by the families affected. We're small, but mighty when combined with caring friends, family and those who support our journeys. 

If you want to make a donation, you can do so here: https://teddystriumphs.blogspot.com/2022/06/pign-cdg-research-were-fundraising.html