“CTD in Everyday Terms” – Sean

I went to college with the intention of becoming a scientist.  With that in mind, I studied biology and chemistry.  While I never ended up becoming the scientist I planned, the knowledge has always proven useful to me.  Never more so than when my son Xavier was diagnosed with CTD.  

It allowed me to understand how the condition functions, it allowed me to read the scientific publications on the condition and comprehend at least most of what was being said.  It is difficult to deal with the loss of control that you feel when you have a child with special needs, but there is solace in being able to understand the how and the why of that condition.  

For the past few years I have been trying to come up with a simple sentence that conveys the seriousness of my son’s CTD without exhausting myself in long explanations.  I have it down to: “He has a genetic disease that limits his ability to generate energy in his brain and muscles, causing severe cognitive and physical delays.”  I think it’s fairly good.

But for those of us that deal with this problem every day, we need more.  I came across one of my favorite quotes on an arcade game screen when I was young. “There is no knowledge that is not power.”  We should all be empowered with as much knowledge as possible, so that we can make the best decisions concerning our children or family members who have CTD, impart that knowledge to those who help us care for them, and share it with others who are in a similar situation.

I write this post hoping to help others understand what creatine is, why those with CTD can’t process it correctly, and finally how cyclocreatine will hopefully help them.  

Creatine is a molecule created in the body that helps generate energy in muscle cells and in the brain.  In order for the creatine to be used, it has to be absorbed into the muscle cells or into the brain.  It is at this point that my son and others with CTD encounter a problem.  

Cells are often shown as being similar to a balloon with all kinds of important stuff inside, but they are really more like a shape sorter box.  The outer wall has many different openings, each letting in or out only the very specific material it is designed for.  For Xavier, the path that is supposed to let the creatine in is not formed correctly.  This happens because of an error in the section of their DNA that tells the cells how to form this pathway.  This is the SLC6A8 gene that you may have heard of.  SLC6A8 is the label for the section of DNA that carries the error.

Because of this error the circle opening in our shape sorter isn’t quite right, so the creatine can’t fit through.  This means that both muscles and brain are not producing energy at the rates necessary for doing all the things they need to do.  This leaves those with CTD with lower muscle mass and reduced cognitive capacity- simply because their bodies are not producing enough energy to run everything.

Cyclocreatine is the molecule that Lumos is trying to bring to trial.  It is my understanding that this molecule is similar to the creatine that CTD sufferers cannot absorb, in that it could provide the materials that cells need for generating energy, yet it is different enough from creatine that it can bypass the mis-formed openings or channels on the cells that prevent the creatine from being absorbed.

It is this ability to bypass cell membranes that would give us hope for this molecule.  There is a thin layer of cells that protects our brains called the Blood Brain Barrier and while it’s great for protecting our brains from various bacteria and viruses, it also keeps out many medications that might be helpful in the brain.  An experiment performed on rats with a SLC6A8 mutation showed that cyclocreatine could slip through this barrier (I do not know if there is any experimental proof that this works on humans), get into the brain, and start to generate the energy those with CTD lack, it is hoped that there will be improvement in many of their abilities.  

I know that drug trials are a very complicated process and while we all cross our fingers and hope we see it soon, patience is also necessary.