Clinical Trials

Yesterday, FRAXA hosted a webinar about some of the current clinical trials for Fragile X.  The webinar covered the two main types of treatments that are in clinical trials right now - GABA-B agonists and mGluR5 antagonists.  It also covered some pretty detailed information about the clinical trials for STX209, AFQ056, and RO4917523.  What was involved, length, qualifications, etc.  Overall very interesting and informative stuff.

I'm not going to go over the information covered in the webinar, but wanted to link the power point presentation here for anyone interested.  I also want to point out that STX209 is also in clinical trials for Autism Spectrum Disorders as well as Fragile X.

These trials are very promising.  I know so many FXS families with their kids enrolled in one or the other that are having fantastic results.  It really bring a lot of hope that we soon will have medications approved that can help our kids out.  These aren't miracle drugs, but even peeling away one small layer of anxiety or problems for our kids can open up an entire new world for them (and us as parents!)

Here is a link to the webinar:  FRAXA Webinar Slides

A big thank you to the presenters and FRAXA for putting this together!!

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Research Wednesday

For this weeks Research Wednesday, I want to focus on another clinical trial currently taking place.  STX209 is a little differnt type of drug than AFQ056 that I went over last week, but it has the same theories behind it.  It is essentially a receptor agonist, classified as a "selective gamma amino butyric acid type B receptor agonist" or GABA-B for short.  STX209 inhibits glutamate signaling in the brain and should, thereby, indirectly inhibit the excessive metabotropic glutamate receptor (mGluR) mediated protein synthesis implicated in fragile X syndrome. The current studies not only cover Fragile X, but also ASD which would make it an ideal candidate for our little Ayden should it hit the market.

Seaside Therapeutics is the company responsible for STX209 and is currently working on Phase III of testing.  The Phase II results were released last summer where parents and patients were reporting decreased outbursts and tantrums as well as increased sociability.  The results also noted many patients were successfully withdrawn from other medications including mood stabilizers, anti-depressants, and anti-psychotics while participating in the study.  While not listed in the actual results section of the Phase II trials, I have spoken with many parents participating in the trial who have repeatedly mentioned they also noticed speech improvements along with the behavioral improvements noted in the studies. 

"We're seeing reductions in a lot of types of outbursts and irritable behavior, along with increased communication and social behavior," says Dr. Randall Carpenter, co-founder, president and CEO of Seaside.

Overall, another very promising study out there for not only FXS, but also for Autism.  I can't wait to see where the next phase of testing brings us on this!

You can read more about STX209 and Autism (ASD) here
The clinical trials section about STX209 from Seaside is here
Also, the official clinical trial information for Phase III is listed here (You can also see any locations that are participating in Phase III from this link.)

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Research Wednesday

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.

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