Research - Slow, Steady and Promising

As we approach World CDG Day on May 16, I want to share both a research update on our drug-repurposing project and a shameless fundraising request.

I shared earlier this year about our Rebel Alliance, which you can read all about here. In the past 2-3 years, we've made slow, steady progress with our drug-repurposing research project. 

There are currently 3 identified possibilities to continue testing with human cells in laboratories. (In the beginning of this project, Teddy donated a skin sample to be used for future testing like this.) There's no guarantee that Teddy's sample will be used (and may be less likely because of the science of his mutation. Fun fact, there are many different variations of PIGN-CDG depending on whether the gene is missing a piece, has an extra piece or got put together in the wrong order (splice site). Teddy has a splice site mutation (thanks to me!), which is one of the harder ones to use for testing. These variations in mutations explain the drastic difference in how each person is affected. 

One of those possibilities is a fat-soluble form of vitamin C. This means it is readily available (at least in the United States) and does not require a prescription. As a result, some of our PIGN families have already begun use of the supplement with medical support.

While the science continues, we're now working to begin a combined phase 1 and 2 clinical trial. The reason for combined phases is because we have such a small sample size to work with that we have to adapt the process. We're looking for families who haven't been early adopters with the unofficial testing to be a part of a clinical trial, which is our next step within our PIGN group.

Meanwhile, all this science is expensive. As I've said from the start, your donations do not directly go to Teddy, but they contribute to the research project that benefits not only the PIGN-CDG community but also the larger community of CDGs. (PIGN is one of more than 100 different types of CDGs, and the research we're doing has implications for other subsets.) Also, this is cutting-edge science, so there's no guarantee we'll find results (though initial results have been promising). 

If you'd be willing to donate or spread the word, both are greatly appreciated. You can donate directly here.

Yeah, we've both grown since 2022. Yet he still thinks he can do this.