Using Exercise and Other Physical Therapy Interventions to Optimize Functional Mobility

Below is a link to a PDF that was used for a presentation at the KDA annual conference. Anyone who follows my blog knows that I highly recommend developing a frequent and sustainable "smart" exercise program for those of us living with Kennedy's Disease (SBMA). The presentation expounds upon the benefits of a regular exercise program as well as provides warnings and tips.

As always, I recommend three things:
1. Consult with your doctor and a physical therapist before beginning any exercise program.
2. A PT familiar with KD or ALS is essential in the design of a sustainable program.
3. Don't overdo. Listen to your body.

Using Exercise and Other Physical Therapy Interventions to Optimize Functional Mobility

Joseph Shrader, PT, CPed

Click on this link to see some other presentations that given at the annual conference.

2017 annual budget process reflects support for research

Medical research is important for those of us living with a chronic or progressive disorder. The MDA Advocacy Newsletter included the following piece of positive news regarding funding of research.

Increase Funding for Research

One of MDA’s policy priorities is ensuring that maximum funding is available for biomedical research. To that end, thank you to all MDA Advocates who have taken action to encourage Congress to make increased research funding a priority.


Both chambers of Congress have included increased research funding in their spending proposals for next year by increasing support for the National Institutes of Health (NIH). The Senate plan includes a $2 billion increase while the House calls for a smaller, but still substantial increase of $1.25 billion. While these figures are not final, and no agreement has yet been reached in terms of final funding levels for fiscal year 2017, it is promising to see Congress making research funding a priority, and we are grateful to each member who has made sustained and robust research funding a priority. We will follow up with additional information when Congress resumes the budget process in September. 

Disappointing - A commentary on those representing our needs

I don't normally make my political feelings known, but I become frustrated when the people who can make a difference in our lives don't.

These people have their own retirement and healthcare programs. They are 'entitled' to these benefits because they 'represent' and supposedly 'serve' their constituents.

It still boggles my mind that these same people decide our future needs and benefits in Medicare programs and Social Security. I have felt for a long time that if any of them had to view their world from out perspective, they would be more responsive.

I don't believe 'they' understand what the 1-in-10 Americans mentioned below go through every day. The 10% doesn't include the families of those living with a rare disease who sacrifice so much to support and care for us.

I would like to see these representatives walk (or roll for those living in a wheelchair) a mile in our shoes before deciding what is important to vote on.  ENOUGH SAID!

Image:  http://glosparentcarers.org.uk

Jul. 14, 2016

TOPIC: Advocacy

NORD Issues Statement as Senate Postpones Vote on Cures Legislation

Posted by Jennifer Huron

The following statement was issued by Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD), as the Senate announced it would not vote on its Cures legislation, also known as the Senate Innovations for Healthier Americans Initiative, until September at the very earliest.

“On behalf of the 1 in 10 Americans with rare diseases, most of whom are still waiting for a treatment or cure, we are disappointed that Senate Cures was not able to pass at this point.  We will keep pushing for this legislation through the summer recess and into September to ensure the voices of patients and families are heard.

Many people with rare diseases are in a race against time.  There are 7,000 rare diseases and 95 percent of these have no treatment.  This public health issue encompasses cancer—approximately half of people with cancer are battling a rare cancer—and neurological, metabolic, digestive, blood and other disorders that are present across the medical spectrum.  

This vital package includes billions of dollars to spur medical innovation that would help the rare disease community, including new funding for critical research at the National Institutes of Health (NIH) and to accelerate drug approval at the Food & Drug Administration (FDA), and other provisions such as the OPEN ACT and Vice President Biden’s Cancer Moonshot, with the potential to stop rare diseases from altering and ending the lives of too many Americans far too soon. Most pressing is the reauthorization of the Rare Pediatric Disease Priority Review Voucher program currently set to expire at the end of September.”

Peter L. Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)

The Annual Kennedy's Disease Conference was held in Chicago this year. The post-conference newsletter is now available for reading (PDF) online. There are several excellent articles on current research as well as plenty of conference news. I have copied a couple of the articles that might be of interest.

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Research News at the 2015 KDA Conference
Ed Meyertholen, Ph.D.
KDA Board Member, and Scientific Review Board Member
Assistant Dean, Georgetown College, Georgetown University, Washington, DC

The annual conference of the Kennedy’s Disease Association was held this past October in Chicago. We are lucky in that we have a group of researchers that not only are dedicated to finding a treatment for KD but also able to find time to present their most recent research at the meeting. In addition, our meetings also allow for the interaction between the researchers and the conference attendees. This is by far the most rewarding part of the conference for me personally.

As is typical, researchers who came to the meeting were from most of the labs in the USA and Canada that make major contributions to KD research as well as some from across the pond. The research described at the meeting is generally unpublished work and as a result, is not usually ready for broad distribution. For me, however, one of the more interesting and encouraging developments this year actually was not a part of our conference and did not even deal with KD but its close cousin, Huntington’s Disease (HD). A new clinical trial using something called anti-sense oligonucleotides (ASO) had started this summer. Without going into excruciating details, ASO’s prevent the production of the protein that causes HD and as a result, the symptoms of HD in mice were reduced with the injection of this ASO. The success of these experiments in mice led to the formation of the clinical trial to use ASO’s in humans. Experiments using ASO’s against the androgen receptor (the protein affected in KD) in mice have also shown to be effective in relieving symptoms of KD. Thus, if this treatment works in HD patients, it should work in KD as well.

The KDA Conference is also the site of the notification and presentation of the research grants funded by the KDA. This year, thanks to your donations and fund raisers two grants were awarded at the conference, one to Dr. Miltiadis Paliouras (principle investigator) and Dr. Lenore Beitel (co-applicant) who are Assistant Professors at McGill University; and the other to Dr Constanza Cortes, a post-doctoral researcher in Al La Spada’s lab at UC-San Diego. The competition for the grants was extremely fierce this year as a record number of proposals were submitted – all of them of excellent quality.

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Exercise Research 

Joseph A Shrader, PT, C.Ped 

Senior Clinical and Research Physical Therapist, Clinical Research Center, NIH

Recent evidence suggests that functional exercises aimed at improving functional tasks such as

sitting up, rolling over, sit-to-stand, and stepping up an 8-inch step were well tolerated by persons with spinal and bulbar muscular atrophy when supervised by rehabilitation and/or nursing professionals. Overall, strength, balance, function, and quality of life did not differ between those who received the exercise versus stretching (control group), however, those with relatively low baseline function improved their functional profile and those with relatively high baseline function improved their general activity level, compared with the control group. More research is needed to help optimize exercise intensity, mode, frequency and duration for individuals with KD. General recommendations for people with KD include attempting to incorporate daily physical activity into your lifestyle, along with good nutrition and sleep habits. If you experience falls, fear of falling, leg weakness, requirement of assistance or assistive devices for standing and walking, it is recommended that you first be examined by your primary doctor, neurologist, or physiatrist to discuss contraindications and exercise goals. It is also recommended that exercises be initially prescribed and monitored for appropriate post-exercise recovery by a physical therapist, until a safe and sustainable self-directed program can be assured.

NIH does not endorse or recommend any commercial products, processes, or services. The views and opinions of NIH authors do not necessarily state or reflect those of the U.S. Government, and they may not be used for advertising or product endorsement purposes.

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.

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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.

A randomized controlled trial of exercise in spinal and bulbar muscular atrophy

 

The trial to determine if exercise has any beneficial or harmful effect for those of us with Kennedy’s Disease was published in Annals of Clinical and Translational Neurology.

Objective: To determine the safety and efficacy of a home-based functional exercise program in spinal and bulbar muscular atrophy (SBMA).

Kenneth Fischbeck, MD, Christopher Grunseich, MD, and Angela Kokkinis, BSN, RN of the National Institutes of Health (NIH) added the following comments to the report:

“The trial did not show a statistically significant change in the primary outcome measure, the AMAT, overall.  However, a subgroup analysis done after the study did indicate that low-functioning men with SBMA may respond better to functional exercise. We also found that functional exercise is safe and well tolerated.”

Link to the full report (PDF)

 

CRISPR - Responses to Human Gene Editing

Earlier this month I posted an article on CRISPR and asked if it would be the answer we are waiting for in the Kennedy's Disease and other rare disease communities. The opportunity for human gene editing has generated a lot of interest and questions concerning its use. Below are two comments concerning this potential breakthrough.

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May 18, 2015

National Academy of Sciences and National Academy of Medicine Announce Initiative on Human Gene Editing

Joint Statement by Ralph J. Cicerone and Victor J. Dzau

WASHINGTON -- The National Academy of Sciences and the National Academy of Medicine are launching a major initiative to guide decision making about controversial new research involving human gene editing.  Human gene-editing technologies, such as CRISPR-Cas9, may lead to promising new treatments for disease.  However, recent experiments to attempt to edit human genes also have raised important questions about the potential risks and ethical concerns of altering the human germline.  Future advances are likely to raise new questions.

Our initiative will include an international summit this fall to convene researchers and other experts to explore the scientific, ethical, and policy issues associated with human gene-editing research.  In addition, we will appoint a multidisciplinary, international committee to begin a comprehensive study of the scientific underpinnings and clinical, ethical, legal, and social implications of human gene editing.  The committee will consider and recommend standards, guidelines, and practices governing the use of gene-editing technologies in biomedical research and medicine.  An advisory group to steer the overall initiative will soon be announced.

We provided leadership in the past on emerging, controversial new areas of genetic research, such as human embryonic stem cell research, human cloning, and “gain-of-function” research.  In 1975, the Asilomar conference convened by the National Academy of Sciences led to guidelines for recombinant DNA research.  In keeping with these past efforts, we are prepared to work with the scientific and medical communities to achieve a comprehensive understanding of human gene editing and its implications in order to help guide researchers, clinicians, policy makers, and the public, here and around the world.

Ralph J. Cicerone is the president of the National Academy of Sciences, a private, nonprofit institution that provides science policy advice to the nation under an 1863 congressional charter. Victor J. Dzau is the president of the Institute of Medicine, which was founded as the health arm of the NAS in 1970.  Effective July 1, 2015, the IOM will become the National Academy of Medicine, and Dzau will be its first president.

Statement on NIH funding of research using gene-editing technologies in human embryos

April 29, 2015

Genomic editing is an area of research seeking to modify genes of living organisms to improve our understanding of gene function and advance potential therapeutic applications to correct genetic abnormalities. Researchers in China have recently described their experiments in a nonviable human embryo to modify the gene responsible for a potentially fatal blood disorder using a gene-editing technology called CRISPR/Cas9.

CRISPR-Cas9 is a customizable tool that lets scientists cut and insert small pieces of DNA at precise areas along a DNA strand. The tool is composed of two basic parts: the Cas9 protein, which acts like the wrench, and the specific RNA guides, CRISPRs, which act as the set of different socket heads. These guides direct the Cas9 protein to the correct gene, or area on the DNA strand, that controls a particular trait. This lets scientists study our genes in a specific, targeted way and in real-time.

Genomic editing is already widely studied in a variety of organisms. For example, CRISPR/Cas9 has greatly shortened the time it takes to produce knockout mouse models of disease, enabling researchers to study more easily the underlying genetic causes of those diseases. This technology is also being used to develop the next generation of antimicrobials, which can specifically target harmful strains of bacteria and viruses. In the first clinical application of genomic editing, a related genome editing technique (using a zinc finger nuclease) was used to create HIV-1 resistance in human immune cells, bringing HIV viral load down to undetectable levels in at least one individual. All of these examples of research using genomic editing technologies can and are being funded by NIH.

However, NIH will not fund any use of gene-editing technologies in human embryos. The concept of altering the human germline in embryos for clinical purposes has been debated over many years from many different perspectives, and has been viewed almost universally as a line that should not be crossed. Advances in technology have given us an elegant new way of carrying out genome editing, but the strong arguments against engaging in this activity remain. These include the serious and unquantifiable safety issues, ethical issues presented by altering the germline in a way that affects the next generation without their consent, and a current lack of compelling medical applications justifying the use of CRISPR/Cas9 in embryos. 

Practically, there are multiple existing legislative and regulatory prohibitions against this kind of work. The Dickey-Wicker amendment prohibits the use of appropriated funds for the creation of human embryos for research purposes or for research in which human embryos are destroyed (H.R. 2880, Sec. 128). Furthermore, the NIH Guidelines state that the Recombinant DNA Advisory Committee, “…will not at present entertain proposals for germ line alteration”. It is also important to note the role of the U.S. Food and Drug Administration (FDA) in this arena, which applies not only to federally funded research, but to any research in the U.S. The Public Health Service Act and the Federal Food, Drug, and Cosmetic Act give the FDA the authority to regulate cell and gene therapy products as biological products and/or drugs, which would include oversight of human germline modification. During development, biological products may be used in humans only if an investigational new drug application is in effect (21 CFR Part 312).

NIH will continue to support a wide range of innovations in biomedical research, but will do so in a fashion that reflects well-established scientific and ethical principles.

Francis S. Collins, M.D., Ph.D.
Director, National Institutes of Health

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

Show your support for NIH

MDA's Outreach Program sent out a message this week that needs to be passed along and supported by all those living with a neuromuscular disease (ALS, SBMA, SMA, etc.).

As many of you know, NIH is currently conducting a clinical trial for a treatment for Kennedy's Disease. If this phase goes well and the treatment is determined to be safe, NIH will move to the next phase and open the trial up to a larger group of patients.

Read the message from the MDA below and consider supporting the proposed increase to NIH spending.

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Increase Funding for the National Institutes of Health (NIH)

Increased funding for the National Institutes of Health (NIH) is critical to finding treatments and cures for the neuromuscular diseases that affect our community. Together, with our generous donors and sponsors, MDA is working to fund groundbreaking research and bring critical support to families. Collaboration-including leveraging federal funding-is vital to speed urgently needed treatments to affected individuals as quickly as possible.

Ensuring increased NIH funding is one of MDA's top policy priorities. Through targeted efforts and strategic initiatives, MDA is urging Congress to boost funding for NIH. Increased support for NIH is critical, as funding levels have failed to keep up with the rising costs of medical research-resulting in a 22% decrease in purchasing power since 2003, when adjusted for inflation. This lack of funding has resulted in a lower grant application success rate and hinders the ability of NIH to conduct and support important biomedical research.

With many voices carrying the message that medical research is imperative to finding treatments and cures, lawmakers have placed increased NIH funding on the Congressional agenda in both the Senate and the House of Representatives.

One example is the 21st Century Cures Act draft released May 13, 2015, by the House Energy &

Commerce Committee. This draft would authorize an increase in NIH funding and would create an NIH Innovation Fund that would increase NIH funding by $10 billion over five years. MDA applauds the bipartisan efforts of the Energy & Commerce Committee for making NIH funding a priority and appreciates the efforts of Chairman Fred Upton (R-MI-06), and Rep. Diana DeGette (D-CO-01), Frank Pallone (D-NJ-06), Joe Pitts (R-PA-16) and Gene Green (D-TX-29) to ensure that increased NIH funding is included in the draft legislation.

In addition to the 21st Century Cures Act, several pieces of stand-alone legislation in the House and Senate support increased NIH funding at various levels. MDA appreciates the efforts of every lawmaker who takes action to increase funding for medical research.

Please click the button below to urge your Congressional leaders to support increased NIH funding.