Research News from the KDA Conference

The Kennedy’s Disease Association had its annual conference and education symposium last month in San Diego.  In an earlier article on this subject I mentioned that the doctors/researchers who attend have their own breakout meetings to share information as well as discuss and collaborate on research projects.



Ed Meyertholen, a board member and the Scientific Review Board Liaison, prepared the article below for the KDA’s upcoming holiday newsletter.  I thought you might find it interesting.

“One of the great experiences of attending the KDA conference is the opportunity to meet and interact with the many researchers who are diligently working to cure Kennedy’s Disease.  We are indeed blessed to have so many researchers who care enough to come and participate in these conferences. There are only a handful of labs that work on Kennedy’s Disease and over the years, most of the researchers from those labs make it a rule to come to our meetings.  This year was no exception as researchers from around the world came to San Diego to meet us and to share their work with us. 
 
The participation of the researchers takes two forms.  Several of the scientists present their latest work at a general meeting.  At this time, the researchers attempt to explain the details of their work (and it is usually quite intricate) and how their findings may eventually lead to a treatment for Kennedy’s Disease.  In addition, there is also a closed meeting which only the researchers attend in which they are able to discuss with each other the implications of recent research and possible avenues of future studies and even possible treatments.  I feel that this is an especially valuable resource in that that allows the exchange of information and ideas between labs.  We are lucky to have a set of scientists who are able to communicate and collaborate with each other and in doing so, help further the search for a treatment.  
 
Some of the highlights of the presentations include the announcement by Dr. Shih, that his group was awarded a grant to begin the process of testing ASC-J9 as a possible treatment for Kennedy’s Disease.  ASC-J9 is a drug that is derived from a chemical in curry that has been shown to relieve the symptoms of Kennedy’s Disease in mice models.  This grant will fund further research with the goal to determine if it is reasonable to plan a clinical trial in the coming years. 


Dr. Kenneth Fischbeck presented some of the results from the dutasteride trial that ended in 2008. While there were no statistically significant effects of dutasteride on the primary outcome measure (quantitative muscle testing), there were effects in some of the other measurements (physical quality of life and number of falls). It is hoped that these results will be published in the near future. He also indicated that NIH was planning a clinical trial on the effect of exercise for Kennedy’s Disease patients. It is hoped that this may start within the next year so watch for an announcement if you are interested.
 


In addition to these specific items, the theme of the researcher presentations centered on the concept that a better understanding of the workings of the normal androgen receptor (AR, the protein that is altered in Kennedy’s Disease) is necessary to understand how the altered AR causes nerve cell death, and thus how it leads to Kennedy’s Disease.  Some of the research described experiments that show that the AR does not act alone as it works in a cell and that these normal interactions appear to be necessary for the mutant AR to cause disease.  These interactions are a bit too complicated to try to describe here, but they involve interactions with other proteins (including the AR itself), with DNA, and with chemical modifications that occur to the AR.  Altering or interfering with these interactions or modifications appears to prevent the mutant AR from causing disease.  Such research is vital to understanding the molecular basis of Kennedy’s Disease and it is hoped these will lead to a new effective treatment for Kennedy’s Disease. 
 


Some of the conferees also were able to become part of a research effort. Several consented to donate a small piece of their skin to  help find a treatment or cure for Kennedy’s Disease.  These samples will be used to generate stem cells from which they can form cultured motor neurons.  It is commonly believed that the main effect of Kennedy’s Disease is on the motor neurons. However, it is not possible to obtain these nerves cells from living patients. This fact makes it difficult to investigate the chemical and biological differences between the motor neurons in Kennedy’s Disease patients and those in non-affected individuals.  It is hoped that by using cells from these skin punches, researchers can generate motor neurons in a ‘dish‘ and use these cells to further the understanding of why these cells are affected in Kennedy’s Disease.
 
We thank the following researchers for joining us and participating in panel discussions:

• Kenneth H. Fischbeck, MD, National Institute of Health (USA)
• Diane E. Merry, PhD, Thomas Jefferson University (USA)
• Al La Spada, MD, PhD, University of California, San Diego (USA)
• J. Paul Taylor, MD, PhD, St. Jude Children’s Research Hospital (USA)
• Lenore Beitel, PhD, Lady Davis Institute for Medical Research, Jewish General Hospital (Canada)
• Andrew Lieberman, PhD, University of Michigan (USA)
• Douglas “Ashley” Monks, PhD, University of Toronto (Canada)
• Angelo Poletti, PhD, University of Milan (Italy)
• Maria Pennuto, PhD, Italian Institute of Technology (Italy)
• Heather Montie, PhD, Thomas Jefferson University (USA)
• Jill Yersak, Thomas Jefferson University (USA)
• Erin Heine, Thomas Jefferson University (USA)
• Lori Cooper, Thomas Jefferson University (USA)
• Angela Kokkinis, BSN, RN, National Institutes of Health (USA)
• Chris Grunseich, MD, National Institutes of Health (USA)
• Alice Schindler, MS, CGC, National Institutes of Health (USA)
• Carlo Rinaldi, MD, National Institutes of Health (USA)
• Laura Bott, National Institutes of Health, Karolinska Institute (Sweden)” 

As you can tell, even though the KDA is a relatively small non-profit, the support we receive from researchers in the United States, Canada and Europe is wonderful.  They are the ones that do the heavy lifting and hopefully we will be the ones that benefit from their work.