Research Wednesday

Back to our normal grind here with some more promising new medication to help out FXS kiddos (and adults).  This one is a little different than our clinical trial drugs though as the medication I am covering today is already FDA approved!

Many of you may have heard of minocycline, a drug used to treat bacterial infections including acne.  If you haven't heard of minocycline, you most likely will have heard of tetracycline (though maybe not by name). Tetracycline was used for a while as a "safe" antibiotic for pregnant women but was later found to permanently stain the baby's teeth.

So, how does Minocycline connect with FXS?  Many families whose children are on minocycline are showing improvements in behavior, attention levels, and most importantly language!

It all started with a mouse.  See, a fragile x knockout mouse was given minocycline for three weeks starting at birth and researchers found that the synaptic connections were normalized.   Normally in FXS, those synaptic connections are weak which is thought to be the cause of intellectual disability and autism.  The minocycline treatment in the mouse reversed that and also showed good effects on cognition and learning tasks as well.   After the study was published, many parents wanted their FXS children to try minocycline and a good amount of doctors decided to prescribe it to see what happened.

The amount of FXSers on this, prompted a survey to parents in which a whopping 54% were reporting improvements in language, 50% reported improved attention span, 44% noticed improved social communication, and 30% noticed a lessening of anxiety levels. 

All these promising survey results resulted in a controlled study of minocycline in FXS patients and is currently underway.  I've spoken to many parents whose children are on minocycline and showed improvement very quickly (within a few weeks, actually).  As with any medicine, there are those FXSers who don't respond as well as others, but from the studies and reports I have heard those numbers are fairly small.

I think the most promising thing to me is seeing that there are medications out there now that are proving to treat some of the symptoms of FXS, and that is excellent to hear.

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Research Wednesday

Today would normally be my research post, but I'm a bit behind right now between birthday (the big 3-0 for this momma), vacation, and just life in general so instead of my garbled blogging - I'm going to leave you with a link to another blog with lots of new research stuff on it; some that I've covered a bit about even.

http://drmikespsychiatryblog.blogspot.com/

This blog has three entries to which I want to specifically reference - June 18, June 20, and June 27.

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Research Wednesday - Newborn Screening

Newborn Screening.

Around 48 hours after you have brought your precious little baby into the world, he/she is subjected to the "heel test" which I'm sure most parents remember their little one going through.  These tests are state-mandated and screen for somewhere around 30 different disorders that can result in early mortality or a life-long disability.  While each state tests for different disorders, currently, Fragile X is not on this list for any state. 

You can see the complete rundown for your state here:  National Newborn Screening Status Report

It's important to note, that other developmental delays such as Downs Syndrome and Spina Bifida require no formal screening as they are physically evident at birth.  Further, prenatal tests are offered to families for both of these disorders.  So, why not FXS?  Previously, it was because the testing wasn't as easily available as the newborn screening tests I talked about above.  Currently, the test is about $10 and there are method available to do the test as a blood drop just like the newborn screening tests.  (though, I do not believe this is available at every hospital currently)

Here are a few articles that deal with newborn screening and fragile x:
Should Babies Be Screened for Fragile X? (June 2011)
Discovering Fragile X Syndrome (Feb 2003)
Ethical, Legal, and Socal Concerns about Expanded Newborn Screening (Mar 2008)

Also, a seperate article about newborn screening in general: Newborn Testing

I think that those of us that understand Fragile X and the implications of a diagnosis are mostly in the same line of thinking when it comes to the issue of newborn screening for fxs.  That is, it should be offered as prenatal testing just the same as Down Syndrome and Spina Bifida are.  When it comes to actual new born screening though; it becomes much more difficult to say a firm yes or no, at least in my opinion.

Since this is my blog though; I will share my thoughts.  I think that newborn screening should be mandatory.  I understand that this has tons of implications when a positive diagnosis comes back; however, I do not feel that should be ignored.   Hand-in-hand with the offering of testing and educational materials during a pre-natal phase should leave parents knowing at least a little bit about Fragile X (or at least having the opportunity to know a little) should a positive diagnosis occur.   I will not deny it would be a shock to anyone; however, so would most any other disorder and in the case of Fragile X - early intervention is proven to be very helpful.  My other reasoning behind this thought, is that most children will need early intervention services and as those services are government funded, it seems very fair to me that the test be mandatory.

I cannot positively say an earlier diagnosis of Ayden would have made a difference, and just cannot go there. It really does not good to second guess decisions.  I do know now though that so many things I thought were just quirks about Ayden (some that were very frustrating at the time) were signs of Fragile X and at the very least it would have been helpful for me as a mother to not feel as if I was doing something wrong.

I'd love to hear other people's thoughts on this, especially those that read who don't have FXS children - so please feel free to comment!

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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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