Tuesday, July 28, 2015

Apps to monitor and report on your health.

The below link to an article in HuffPost Healthy Living by Brandon Bailey of the Associated Press was posted in the KDA Forum

These type apps could be beneficial those of us living with Kennedy's Disease (SBMA) who have difficulty traveling to NIH or other distant research facilities. It appears the apps could be used to monitor certain clinical trial information including progression, side effects, gait, etc. This would have been useful for the clinical trial on exercising also. 

The article mentions that people are more involved in the studies because of these apps. They have some control and are needed to participate to monitor and send the information being collected.It was interesting to me that over 75,000 people have enrolled in studies using these type apps. 

I can see where this would be great for many studies where normally you would have to return to the hospital, doctor's office, or research facility to be tested or evaluated regularly. I would think that another benefit is the data can be more easily collected, stored and analyzed..

Of course, the comment on maintaining the privacy of the user and the information reported is still something that is a concern.

Check it out and let me know what you think. Thanks

This Phone App Lets You Contribute To Research On Your Own Disease

Friday, July 24, 2015

ADA Turns 25

The MDA Advocacy News sent out the following:

As the ADA turns 25...

On July 26, 1990, the Americans with Disabilities Act (ADA) was signed into law, marking an important step forward for individuals with disabilities and their families.  The legislation elevated the importance of equal access for children and adults with disabilities and engaged the country in a conversation about the inherent rights every person has, regardless of ability.  The ADA changed the landscape for people with disabilities—it is the primary reason we have accessible parking spaces and building entrances and why those of us with limited mobility can navigate school campuses and access and enjoy public libraries, retail stores, movie theaters and doctors' offices. 

As the ADA turns 25, we come together to celebrate the accomplishments of this legislation while maintaining our focus on continued, collective efforts to protect and enhance the rights of our disability community, where there is still much work to be done.


Being an 'old-timer', I find it difficult to believe that it was only 25 years ago that things started to change for those living with a disability. I still become frustrated when I do not have access to certain buildings or a handicap bathroom is nothing more than two grab bars attached to a normal toilet. Yet, I am thankful for all the changes that have been made to allow me access to facilities including designated parking areas. Probably the biggest change is the mindset of the majority of people. Thank you ADA.

For more information on the ADA, visit:  http://www.ada.gov/

Wednesday, July 22, 2015

Clinical Trial for HD

This could be important to those of us living with Kennedy's Disease. Huntington's Disease (HD) is similar to Spinal Bulbar Muscular Atrophy in that it is also a CAG Triplet Repeat Disorder that previously did not have any treatment. If successful, the drug will target the cause of HD.


Press Release

Isis Pharmaceuticals Initiates Clinical Study of ISIS-HTT Rx in Patients With Huntington's Disease

First therapy designed to directly target the cause of disease
Isis Earns $22 Million Milestone Payment from Roche
CARLSBAD, Calif., July 21, 2015 /PRNewswire/ -- Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) today announced that it has initiated a Phase 1/2a clinical study of ISIS-HTTRx in patients with Huntington's disease (HD). ISIS-HTTRx is the first therapy to enter clinical development that is designed to directly target the cause of the disease by reducing the production of the protein responsible for HD. HD is a rare genetic neurological disease in which patients experience deterioration of both mental abilities and physical control. Presently, there are no disease-modifying treatments for HD, with current therapies focused only on treating disease symptoms.   ISIS-HTTRx has been granted orphan drug designation by the European Medicines Agency for the treatment of patients with HD.  Orphan drug designation is granted to products designed to diagnose, prevent or treat life-threatening or very serious conditions that affect not more than five in 10,000 persons in the European Union.  
Isis Pharmaceuticals, Inc.
"Although the toxic protein produced from the huntingtin (HTT) gene in HD patients has been a target of interest for many years, no therapies have advanced to clinical trials to treat the underlying cause of the disease. Our antisense technology has enabled us to discover and develop ISIS-HTTRx, the first therapeutic approach designed to treat the genetic cause of HD. Together with Roche, we are committed to investigating this approach to treat patients with HD, a devastating disease that typically affects generations of families," said C. Frank Bennett, Ph.D., senior vice president of research at Isis Pharmaceuticals.

"Initiating the clinical study of ISIS-HTTRx in patients with HD is the first step in developing a treatment that could significantly impact a patient's disease. It is also an important milestone in our collaboration with Roche. As we advance this program, we will continue to benefit from Roche's scientific expertise in developing therapeutics for neurodegenerative conditions," said B. Lynne Parshall, chief operating officer of Isis Pharmaceuticals.

The randomized, placebo-controlled, dose escalation Phase 1/2a clinical study will evaluate the safety and activity of ISIS-HTTRx  in patients with early stage HD.  In this study, ISIS-HTTRx  will be administered intrathecally as an injection directly into the cerebral spinal fluid. Intrathecal administration of antisense drugs has been shown to be well tolerated in multiple clinical studies in patients.

"The initial development of this antisense drug for Huntington's disease came out of a longstanding productive partnership between Isis and CHDI, and its advancement now to clinical trial is testament to Isis' perseverance and scientific expertise," said Robi Blumenstein, president of CHDI Management, which oversees the activities of CHDI Foundation, a nonprofit research organization exclusively dedicated to the development of therapies that will slow the progression of HD. "It's exciting that therapeutic candidates grounded in the biology of Huntington's disease are finally making their way to clinical trial."

ABOUT ISIS and ROCHE Roche and Isis are collaborating to develop antisense drugs to treat HD. The alliance combines Isis' antisense expertise with Roche's scientific knowledge in developing neurodegenerative therapeutics. With the initiation of the Phase 1/2a study for ISIS-HTTRx, Isis earned a $22 million milestone payment from Roche. To date, Isis has earned $52 million in upfront and milestone payments from its relationship with Roche and is eligible to earn additional milestone payments as the drug progresses in development, as well as royalties on sales of ISIS-HTTRx if it is commercialized. Roche has the option to license ISIS-HTTRx from Isis through the completion of the Phase 1/2a study. Prior to option exercise, Isis is responsible for the discovery and development of ISIS-HTTRx. If Roche exercises its option, it will assume responsibility for global development, regulatory and commercialization activities for the drug.

CHDI Foundation, Inc. provided financial and scientific support to Isis' HD drug discovery program through a development collaboration with Isis. Over time, CHDI will be reimbursed for its support of Isis' program out of milestone payments received by Isis.

ABOUT ISIS-HTTRx and Huntington's Disease ISIS-HTTRx is a Gen. 2.0+ antisense drug in development for the treatment of Huntington's disease. ISIS-HTTRx  is designed to reduce the production of all forms of the huntingtin protein, which is the protein responsible for HD. As such, ISIS-HTTRx offers a unique approach to treat all patients with HD. HD is a rare genetic, progressive neurological disease resulting in deterioration in mental abilities and physical control. HD is referred to as a triplet repeat disorder, and is one of a large family of genetic diseases in which certain gene sequences are mistakenly repeated. In HD, the gene that encodes for the HTT protein contains a trinucleotide sequence that is repeated in the gene more than 36 times. The resulting HTT protein is toxic and gradually damages neurons in the brain. Symptoms of HD usually appear between the ages of 30 to 50 years, and continually worsen over a 10 to 25 year period. Ultimately, the weakened individual succumbs to pneumonia, heart failure or other complications. Presently, there is no effective disease modifying treatment, and current approaches only focus on managing the severity of some disease symptoms.

Monday, July 20, 2015

ENMC International Workshop - SBMA Research Update

Maria Pennuto, PhD,Assistant Professor, University of Trento in Italy sent the following PDF summary report on the SBMA conference at the ENMC International Workshop:

210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy,27–29 March, 2015, Naarden, The Netherlands

There were several items of interest in the report. Many topics are over my head, but some were still interesting. Dr. Fischbeck provided an overview of SBMA and also gave a report on the Exercise Trial. There was some discussion on others opportunities in the exercise area. A SBMA registry of patients was discussed.

It would be helpful to have Ed Meyertholen, a KDA board member, provide a summary of key topics and findings that may be of interest to those of us living with Kennedy's Disease.

Friday, July 17, 2015

Ensuring Access to Clinical Trials

The MDA sent out the following update this morning.

July 17, 2015

Legislation Ensuring Access to Clinical Trials for People with Neuromuscular Diseases Passes U.S. Senate

On July 16, 2015, the U.S. Senate passed the Ensuring Access to Clinical Trials Act (S.139), which removes barriers for those with neuromuscular and other rare diseases to participate in clinical trials.

The bipartisan legislation makes permanent the Improving Access to Clinical Trials Act of 2009 ("IACT") that is scheduled to expire in October 2015. The bill stipulates that up to $2,000 of compensation will not be counted as income toward patients' eligibility for Supplemental Security Income (SSI) or Medicaid. By making the IACT permanent, those with muscular dystrophy, Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy (SMA) and other neuromuscular and rare diseases will be able to continue to participate in clinical trials without the risk of losing vital benefits.

MDA is proud to partner with the Cystic Fibrosis Foundation, the National Organization for Rare Disorders, and more than seventy other groups- who together represent millions of individuals-in support of the Ensuring Access to Clinical Trials Act of 2015 ("EACT") (S.139/H.R.209).

An identical bill is currently pending in the U.S. House of Representatives (H.R. 209). Please click the button below to receive advocacy alerts and updates about this and other important policy initiatives.

It is good to hear that more than 70 organizations have come together to support the passage of this Act.  Additional information and details about the act can be found at Congress.Gov .

Friday, July 10, 2015

21st Century Cures Act Passes

Back in May I asked you to show your support for the National Institutes of Health by contacting your representatives. I felt this was important for any of us living with a neuromuscular disease or any other rare disorder including Kennedy's Disease (SBMA).

Good news!  The funding bill passed; Below is the message sent out from the MDA today. Thanks to all of you who took the time to show your support for the 21st Century Cures Act.

21st Century Cures Act Passes with Overwhelming Support

Today the U.S. House of Representatives overwhelmingly passed the bipartisan 21st Century Cures Act by a vote of 344-77. The Act includes important provisions aimed to accelerate the discovery, development and delivery of treatments and cures, including increased funding for the National Institutes of Health (NIH).

Increased support for NIH is critical, as funding levels have failed to keep up with the rising costs of medical research. This has resulted in a 22% decrease in the purchasing power of the NIH and in fewer research grants being funded. The 21st Century Cures Act makes important strides to remedy this by authorizing increased NIH funding levels and creating a NIH Innovation Fund that provides an additional $8.75 billion to the NIH over the next five years.

Wednesday, July 8, 2015

Baby Steps

I don’t know about you, but after a serious fall that involved an injury, getting back on the horse is no easy task. Yes, I know it needed to be done, but I constantly asked myself, “Am I ready?”

After two weeks of sponge baths, yesterday I decided I was ready to take a shower. I thought I was ready on Monday, but I second guessed myself and put it off. Yesterday, when I came back from taking my dog for a walk (I ride and he walks), I told my wife, “Let’s do it.”

During the process of undressing and preparing to step into the shower, there were several moments that I paused and considered if this was the right time to try it. My metatarsal still isn’t healed; nor is the sprain. And, the left hyper-flexed knee still gives me some problems. 

  • Should I wear a shoe to protect the foot?
  • What happens if I do more damage stepping into or out of the shower?
  • What if my left knee and foot won’t hold all of my weight?

What kept my moving forward was the affirmation, “Come on, Bruce, you’ve done this a thousand times. Just get it done.”

I find it interesting how my mind works. From day two after the injury, I started exercising the legs. This wasn’t my regular routine; just side-to-side shifts. I added ten each day until I was up to 50 reps. Next I added standing leg lifts. I started small, but within a week I was up to 70 of them. So far so good. I began taking my dog out (transferring to and from the golf cart was another milestone in the recovery process. Everything went very well and ahead of schedule.

But, taking a shower was the one thing I continued to put off. Okay, now that the shower is behind me, I am one step closer to the day I can say ‘fully recovered’. WHEW!

Wednesday, July 1, 2015

Healthcare Fraud

In This month’s CostCo Connection, there is a good article written by David and Amanda Horowitz titled, “Take Care with Medicare.” It discusses the Medicare fraud issues plaguing users and our government today. Below are a few highlights from the article.

Protect yourself from Medicare fraud by taking these steps. (Note: The advice is also good for any health insurance claim)

  • Make sure providers are Medicare approved. Go to medicare.gov or call 1-800-633-4227 to see if the provider is approved.
  • Keep a record. Record your healthcare services including dates and keep the receipts. Review your Medicare (or insurance) statement of services provided and compare it to your records. If something doesn’t appear to be correct. Contact your local Senior Medicare Patrol (smpresource.org) or your provider to discuss the potential issue.
  • Protect your Medicare card and number. Know who you are sharing your personal information with, be on guard for potential scams, and do not give out personal or sensitive information to anyone you do not know. If you believe you lost your card or it was stolen, contact the Social Security Administration at 1-800-772-1213.
  • Be suspicious of healthcare providers, doctors or suppliers who call and say they represent Medicare or the federal government. Or, they offer free Medicare services, or non-medical transportation or housekeeping services that are supposedly approved by Medicare. The adage, “If it sounds too good to be true, it probably is.”
  • If you suspect Medicare fraud, contact Medicare immediately at 1-800-633-4227.