This is not a joke and is actually quite serious but a good thing for a lot of us. In the highly prestigious Journal of Clinical Investigation (http://www.jci.org/articles/view/59373) we have published a paper showing our discovery of a true treatment for ONE of the causes of autism. The type of autism spectrum disorder is the creatine transporter deficiency, where the brain lacks creatine because it cannot be transported into the brain. To prove the treatment we made mice who had the disease, proved they had the disease and then treated them with a drug called cyclocreatine. Cyclocreatine gets into the brains of the mice with the disease and acts just like creatine. We were able to fool the brain into thinking that cyclocreatine was creatine thereby treating the mice.
This is a major breakthrough for treating these patients as well as the field of autism research. That is if we can find the cause of the disease we can design strategies to treat those individuals. One of the amazing things seen in the mice is that there was a reversal of symptoms. While this does not mean an autism patient will suddenly become normal, it does provide hope for the thousands of individuals with intellectual disabilities including the estimated 50,000 individuals with this type of Autism spectrum disorder. Please do remember that Autism is a spectrum of disorders and not all Autism patients will benefit from treatment with cyclocreatine.
Now for the reality check. It took 12 years to get here, since the cause of this type of autism was discovered, an pretty much used up all the research funding I had has gone to get to this point. This is not fast and it is not cheap. It is all well and good to say someone should do research on a subject, because a lot of us do say that. However, without funding, I needed to use my own personal finances and academic resources to do research because for the past several years the NIH and other funding agencies have said they will not fund this work even with Autism occurring in 1 out of every 88 births. I can’t do research on good will and my finances are running dry.
The continuing reality check is short and sweet. If you want to ask when will the drug be ready for patients the answer is pretty easy. It will be ready about 3 years after we get the 26 million dollars needed to do the research. Yes it comes down to money.
While I’m grateful for, and proud of, what amounts to my life’s work, I’m not sure what is next. Notwithstanding, improving and normalizing the lives of the CTD patients is what I am thinking about every day and I’ll continue to the best of my ability.
Please note, if you are a parent of a creatine transporter deficiency child please be aware that cyclocreatine is NOT an FDA approved drug. It is not possible to get high quality cyclocreatine and we don’t yet know what dose to give to humans. So it is not recommended to try treating anyone with it; not right now anyway. Further, cyclocreatine is on sale on the web. But it is chemical grade and not pure like would be found in a drug. Plus I saw cyclocreatine being sold out of China, but it contained no cyclocreatine, but rather a toxic analogue. You might never know what you were getting, so I’m sorry to say it is dangerous to try to start treating people now. That is why we need more money and more time to do the right research before giving it to patients.
With great knowledge comes great responsibility. We now have the knowledge but must act responsibly to safely get cyclocreatine to the point where we can treat patients with CTD.
If you wish to or are able to offer financial and / or material support to the research on treating the creatine transporter deficiency please contact me directly as the University of Cincinnati will be able to take donations directed to this project. My contact details are: email@example.com.
Feel free to join the creatine deficiency support group on facebook if you want to talk about this discovery or other issues regarding creatine deficiency disorders. The group has patient family members, physicians, scientists and care givers as well as people interested in Autism Spectrum Disorders. https://www.facebook.com/groups/127389967322193/