Friday, November 27, 2015

Walk-Assist is becoming a reality

Over the last five years I posted several articles on robotic devices that may someday be available to assist those of us living with Kennedy's Disease.The Nikkei Asian Review published an article on the latest success in this amazing area of medicine.
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Wearable walk-assist gets green light for sale in Japan


Cyberdyne's HAL for Medical Use, lower limb type, is designed to help patients with such conditions as ALS and muscular dystrophy.
TOKYO -- Japan's health ministry approved on Wednesday sale of a wearable walk-assist robot for use in medical facilities, underscoring the government's push to promote such products as part of growth strategy.
     The HAL for Medical Use, lower limb type, from startup Cyberdyne is the first wearable medical robot approved for sale in Japan.
     The product is designed for use in healthcare facilities by patients with eight incurable conditions including amyotrophic lateral sclerosis (ALS), muscular dystrophy, spinal muscular atrophy, and spinal and bulbar muscular atrophy, given height and weight requirements.
     Cyberdyne originated at the University of Tsukuba. Yoshiyuki Sankai, a professor there, developed the technology and heads the company as president.
     Sensors attached to the thigh and other parts of the body detect the weak signals from nervous system, and the motor-powered limbs facilitate the movement of the patient's joints by leading them in the desired direction. This helps the body remember how to walk, according to the company.
     The robot could delay the progress of a disorder, or help regain leg function.
     Clinical trials at a national hospital in Niigata Prefecture and elsewhere showed that 24 patients who underwent nine sessions of exercises over a three-month period could walk greater distances than those who did not undergo such exercises.
     "We hope to introduce it initially to eight hospitals including the Niigata hospital," Sankai said. If the treatment qualifies for insurance coverage, the company will work to expand the application to spinal cord conditions, too. ...

To read the entire article, follow this link:   http://asia.nikkei.com/Tech-Science/Tech/Wearable-walk-assist-gets-green-light-for-sale-in-Japan?page=1

Sunday, November 22, 2015

Diane Merry - SBMA Researher

The MDA published the following article on a Kennedy's Disease researcher many of us know.

Five Questions with SBMA Researcher Diane Merry

Diane Merry, associate professor at Thomas Jefferson University in Philadelphia, is working to identify therapeutic opportunities to promote normal androgen receptor function while preventing the toxic effects of polyglutamine expansion in spinal-bulbar muscular atrophy (SBMA). With GlaxoSmithKline, Merry will test small molecule compounds that activate an enzyme called SIRT1 in cell and mouse models of SBMA to determine their therapeutic potential.

Please describe your current research in SBMA.
Many neurodegenerative diseases result from protein misfolding and accumulation due to genetic or environmental causes. SBMA is one such disease; it is an inherited, adult-onset, neuromuscular disease that is caused by the expansion of a polyglutamine tract within the androgen receptor (AR) and is related mechanistically to other neurodegenerative diseases caused by polyglutamine expansion.

An important feature of SBMA is that its onset and progression are dependent on the binding of androgenic hormones to the mutant receptor. Our studies of mouse and cell models of SBMA that reproduce the androgen- and polyglutamine-dependent nuclear AR aggregation seen in patients, as well as its toxicity, revealed that the mutant AR must be modified by the addition of acetyl groups for its aggregation and toxicity. Moreover, the deacetylase SIRT1 is strongly neuroprotective in cell models of SBMA and this neuroprotection largely depends upon its ability to remove acetyl groups from the mutant AR.

We are investigating the therapeutic potential of activating this acetyl group-removing enzyme, SIRT1, with small molecule activators. We will test these compounds in cell models, and ultimately in mouse models, of SBMA.  We anticipate that these studies will reveal new and powerful opportunities for therapeutic development in SBMA.

Is this your first MDA grant?
No, I was funded previously (as a post-doctoral fellow and then when I started my lab) by MDA.  It means a tremendous amount to me to be funded once again by this organization that is so committed to finding a cure for neuromuscular diseases.

What inspired you to study SBMA?
I come from a strong background of training in molecular genetics and molecular pathophysiology. I began to study the molecular basis of this disease in 1993, just a short time after the genetic cause of the disease was identified.  I have been studying SBMA ever since that time — for the past 22 years.

What is your focus within the SBMA field, and why is it important?
My focus is on the mutant androgen receptor protein itself and the effect of the polyglutamine expansion on androgen receptor metabolism (structure, trafficking, protein interactions, turnover), in order to identify therapeutic opportunities to promote normal androgen receptor function while preventing the toxic effects of the polyglutamine expansion. The work funded by this grant is designed to do just that.

There is currently no effective therapy or cure for SBMA and thus an effective therapy is a primary goal of our work. The work funded here is likely to bring us closer to that goal.

What do you feel people impacted by SBMA can have the most hope about with respect to research right now?
We know so much more about the disease process at this point in time, and we and others have identified disease targets for therapeutic development. I do think that a therapy or therapies are within sight for SBMA in the foreseeable future.

Does your work have any potential implications for other disease fields?
Our work has implications for other diseases in which the enzyme SIRT1 is neuroprotective.  Although the SIRT1 target proteins may be distinct, the identification of small molecule activators of SIRT1 is likely to open up possibilities for using these activators to treat other diseases.

Tuesday, November 10, 2015

Update on the Novartis Drug BVS857 Clinical Trial

I asked Dr. Fischbeck for an update on the current clinical trial at the NIH. He provided the following:

Our current trial of Novartis drug BVS857 here at the NIH now includes 8 sites, 4 in the US and 4 in Europe. Information about it can be found at the ClinicalTrials.gov website: https://clinicaltrials.gov/ct2/show/NCT02024932. The trial is progressing well, and with the added sites we hope to finish it in a few months. We won’t know the results until the trial ends and the data have been analyzed, but at this point I am optimistic.

If the current trial shows a robust benefit, then a follow-on study to confirm safety and efficacy is likely, and that could well include additional sites. Meanwhile we are in discussions with other companies about new drugs to try, perhaps by late 2016 or early 2017.

When Dr. Fischbeck uses the words, '... at this point I am optimistic', it brings a smile to my face and a flash of hope. With eight sites involved in the trial, the results should be more indicative of what we can expect if, and I use the word IF, BVS857 should ever become available. 

The clock is ticking for some of us living with Kennedy's Disease (SBMA), but that doesn't mean that many of us, including future generations, won't reap the benefits of a treatment for this condition. So, stay tuned and don't give up hope.

Thursday, November 5, 2015

Fingers and Fists



Over the last few years, my fingers and hands have become an issue. My grip isn’t as good and I
find that I drop things more often, or cannot grip things as well. The problem becomes more serious as the temperatures drop.
I tried several ways to improve my grip and use of the fingers, but nothing really worked until …
I exercised my hands and fingers every day
Prior to this, I exercised the hands and fingers every other day. Within 24 hours, I noticed some soreness. And, within 36 hours, I experienced problems again.
Since I began a routine of daily exercises, I no longer experience the soreness. Also, I don’t have the fall off in strength that I used to experience. My hands and fingers operate better and are stronger. My grip has also improved.
After moving to the daily routine, I have modified several of the exercises based upon my experiences. Do what works for you.
Photo:  kr052808_040.jpg By krosseel