BVS857 Clinical Trial Yields Mixed Results. To learn more, click here.
Trial Shows Positive Initial Results for IGF-1. To learn more, click here
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial. To learn more, click here.
Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents. This study focuses on identifying a miRNA that directly downregulates expression of the mutant AR transgene and on designing a safe and efficient mode of delivery of the miRNA to the spinal cord and skeletal muscle of our disease mouse model. For onformation on this study, click here.
Carlo Rinaldi, associate professor and clinician scientist at the University of Oxford in England, was awarded an MDA Development Grant totaling $120,000 over 3 years to study the role of androgen receptor isoforms in SBMA. The MDA just announced it is funding 34 new research projects totaling 9.9 million dollars. For more information, click here.
Study identifies potential drug for treatment of Kennedy's Disease. To read the Medical Press article, click here
November 15, 2017 - MDA Announces SBMA Research Grant. For more information, please check out the Living with Kennedy's Disease blog. To view th blog, click here.
October 26, 2017 - Thanks to a new, $151,000 grant from the National Institutes of Health, Dr. Heather Montie and her team will spend the next two years creating a preclinical research model using zebrafish, which will hopefully help drive research in SBMA and eventually, help lead to a therapy for patients. For more information, click here.
September 3, 2017 - New Treatment for SBMA approved in Japan. Check out the Living with Kennedy's Disease blog for comments on the study as well as a link to the original article which is written in Japanese. To view the blog, click here.
May 26, 2017 - The study, Identification of Neuron Selective Androgen Receptor Inhibitors was just published by the World Journal of Biological Chemistry this week. Check out the Living with Kennedy's Disease blog for comments on the study as well as links to the news article and published results. To view the blog, click here.
May 1, 2016 - Correlation of insulin resistance and motor function in spinal and bulbar muscular atrophy. To view the article, click here.
January 4, 2017 - The study, Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy was just published. Check out the Living with Kennedy's Disease blog for comments on the study as well as links to the news article and published results. To view the blog, click here.
Research update as of June 2004
J. Paul Taylor, MD, PhD University of Pennsylvania
$25,000 Grant Awarded November 2003: Drosophila melanogaster (fruitfly) model system to investigate the molecular pathogenesis of Spinal and Bulbar Muscular Atrophy
I'd like to provide an update on our Kennedy's disease research. We've made substantial headway in our characterization of the phenotype as reflected by locomotor activity and lifespan. We're now getting set to examine the histopathology using several different techniques. In addition, we have started creating a series of new transgenic Drosophila lines to extend the utility of the model. Specifically, we think that the Drosophila model provides a good system to test ideas raised by Dr. Lisa Ellerby of the Buck Institute and Dr. Andy Lieberman of the University of Michigan.
First, in collaboration with Dr. Ellerby, we will investigate the role of androgen receptor cleavage in the process of motor neuron toxicity. As you may recall her describing at past KDA meetings, Dr. Ellerby's work suggests that polyglutamine-expanded androgen receptor becomes toxic only after cleavage (cutting the protein into fragments). It is hypothesized that this cleavage event results in the formation of a toxic protein fragment. If it can be verified that cleavage is a requisite step in pathogenesis, preventing this cleavage may be a useful therapeutic strategy. Dr. Ellerby will be providing several "non-cleavable" forms of androgen receptor that we will use to make transgenic flies. If the cleavage hypothesis is correct, these flies may not show as much degeneration as the flies we are working with currently.
Second, in collaboration with Dr. Lieberman, we will investigate the role of chemical modification of the androgen receptor in the process of motor neuron toxicity. Dr. Lieberman recently published an excellent article describing a role for acetylation in aggregation of the androgen receptor (Thomas et al. J. Biol. Chem., Vol. 279, Issue 9, 8389-8395). Similar to the work by Dr. Ellerby, this suggests that features of the androgen receptor other than the polyglutamine repeat may be important determinants of toxicity. If it can be verified that acetylation of the androgen receptor (a chemical modification) influences toxicity, this may also provide a therapeutic strategy. Dr. Lieberman will be providing a "non-acetylatable" form of the androgen receptor that we will use to make transgenic flies. If this acetylation is an important step in pathogenesis, this should be reflected in the severity of degeneration in these flies.
-- J. Paul Taylor, MD, PhD