Thursday, August 29, 2019 10:18:05 AM
Details of the condition here:
https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet
Might this disease be successfully treated with an Anavex sigma-1 receptor agonist? Quite possible. Importantly, although genetic, CMT symptoms have a post-natal (after birth) onset, usually in early or late childhood. For a time, nerves work adequately, then begin to degenerate.
Certainly the Anavex drugs will be tested in transgenic rats with the CMT genes. And, because of no appreciable (well, any) side effects, the drug could certainly be given to children with the CMT genes in an attempt to slow or prohibit symptomatic onset. Perhaps Anavex drugs can maintain various neuronal homeostatic processes that normally maintain neuron function (ones lost with the progression of CMT).
Interestingly, I, myself, have a very mild form of a somewhat related disease, hereditary spastic paraplegia (HSP). In kindergarten, my teacher Mrs. Dillenschneider became angered at me because I absolutely refused to sit cross-legged on the floor while she read to us stories. Instead, I laid on my side or belly, with legs fully extended.
At the time, no one, Mrs. Dillenschneider, my parents, or me, understood the problem of my non-compliance. My HSP was starting to set in. In HSP (among other symptoms) the long motor nerves in the spinal cord that control the muscles of the upper leg, particularly the adductors, become chronically hyperactive. This draws the legs together, making it impossible to sit cross-legged. Spasticity.
Fortunately, of the over 60 phenotypes of HSP (in fact, there may be hundreds), I have one of the least problematic. I went on to play basketball and other sports. I simply walked a bit funny, a bit pigeon-toed.
But the disease progressed. In the last 10 years (I’m in my 70s now) my leg spasticity has increased; and I have urinary retention, inability of the bladder to completely void during urination. A typical HSP symptom. I now have to deal with a suprapubic catheter — which I manage well, maintaining aseptic replacement, etc. My urologist is a former student of mine. He commends me on several catheter innovations I’ve adopted; ones he’s demonstrated to his nurses and other catheter patients.
For me (and my HSP) here’s where Anavex enters. A few years ago I found a journal article (I believe from France) where transgenic rats with HSP symptoms (back leg spasticity, etc.) were allowed to drink Anavex 2-73-laden water ad libidum. In just a week or so, each of the rats began walking and urinating normally. The Anavex drug suppressed the motor neuron hyperexitability.
Alarmingly, for me at least, I unknowingly lost my digital copy of this study during a computer file transfer. I later tried to retrieve it; gone, no where to be found. I’ve tried searching through the many sigma-1 receptor agonist papers on the internet, but have not be able to find it. It’s very obscure. If anyone knows of the paper, please post it. With it in hand, I will be able to prompt my neurologist to write an off-label prescription for Anavex 2-73 when it gains sales approval. My insurance company won’t pay for that prescription. It’ll cost me probably thousands. But in the case of the transgenic HSP rats, the restored neuron function appeared to endure for some time after therapy was terminated (as I recall).
Where is the HSP rat study paper? Anyone? People with CMT, too, would like to show it to their neurologists when Anavex 2-73 is on pharmacy shelves.
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