I've been thinking a lot about how I want to direct this blog. The big thing I have found as we jumped head-first into this journey is that there is not any one good place for information. So many websites have great information - but you have to piece a lot together or it's very basic. I want to help raise awareness of FX, help other families that are on this journey as well, and keep our friends/family updated as to Ayden's current progress. With those three things in mind, I'm going to start doing something I'll call Research Wednesdays. Essentially, I'll be trying to do a post about new/current/exciting research each week in the field of Fragile X or Autism. As I am a FX Carrier, there may be some things about FXPOI and FXTAS as well, but my main focus will be directed toward those affected by Fragile X. I'm also going to be adding at least one more "themed" day, but I'm not sure what I'll be calling it yet even though I do know what it will be about.
For the first Research Wednesday...I want to focus on what I feel is one of the more promising clinical trials out there right now. There are a few pharmaceutical companies running mGluR5 Antagonists studies. What exactly does mean? Metabotropic Glutamate Receptor 5 (mGluR5 for short) is a receptor in the brain that plays a role in protein synthesis at the junctions between nerve cells. It becomes hyperactive as a result of the gene mutation that causes Fragile X. The thinking is that by blocking this receptor, the activity will be restored to a normal level. While I mentioned there are a few of these studies out there, probably the most recognized of these studies in the FX community is the Novartis Clinical trial of AFQ056 which is currently in Phase IIb/III.
I think the reason this one is so well known is because of the Phase I results which were published in January. Phase I testing showed reduced repetitive behaviors (such as rocking, hand flapping etc) and other behavioral improvements after treatment. Some parents also noticed their children were more able to engage and interact with them while on the drug and also reported fewer disruptive behaviors such as tantrums. While the first phase showed no evidence of improvements in learning and memory; Novartis thinks that such cognitive changes might require longer treatment times. The researchers reported their findings online in Science Translational Medicine. You can view the full report here.
Phase IIb/III is currently in the recruiting phase. They are mostly recruiting men and women with Fragile X in the 18-35 age range, though some centers are also recruiting 12-17 age range as well. If you are interested in participating, you can find out more here: Fragile X Clinical Trials. The AFQ056 trial is currently listed at the top of the page.