Lecture by Dr Fischbeck at Oxford University

This article was posted by Colin Hopps on the KD-UK blog. I think most everyone will find it interesting.

"Prior to this lecture at Oxford, my understanding of KD has been superficial but after reading an explanation by Dr Fischbeck and attending his lecture at Oxford University I have a much better grasp.


We have a repeat of a CAG pattern in the Androgen Receptor gene on our X chromosome. If one has up to 36 repeats you will not have KD but 38 and above you will and generally the more repeats the earlier the onset and severity. These extra repeats cause us to produce a longer Androgen Receptor protein which isn’t good but in itself would not cause KD, it is the toxicity it causes to the neurons and muscle cells this in turn damages the cells and ultimately results in the death of these cells. Below is the more technical description, took me several hours and Wikipedia to get a basic understanding.


So what is happening in the world of research regarding treatment? Well there are research groups in America, Copenhagen, Padua, Nagoya and here in London and Oxford. There is research mainly in five areas. ..."


Link to the entire post:  Oxford Lecture Notes

Update on BVS857 Clinical Trial

Below is a link to a short video update given by Dr. Fischbeck of the National Institutes of Health on Phase 2 of the clinical trial using a Novartis drug called BVS857. The trial is being held in several locations in the United States and Europe. Dr. Fischbeck uses the terms 'encouraging' and 'promising' in his comments on this study.

That is encouraging for me. :-)

"In this exclusive interview, Kenneth Fischbeck, MD, of the National Institute of Neurological Disorders and Stroke (NINDS) talks about the recent studies being conducted at the NINDS, in collaboration with Novartis, to understand, and find a treatment for, Kennedy's disease (spinal and bulbar muscular atrophy)."

http://www.raredr.com/videos/Kennedys-Disease

For more about this trial, follow this link: https://clinicaltrials.gov/ct2/show/NCT02024932