Government Funding for NMD Research

Below is an article from the MDA’s Quest Magazine on government funding for neuromuscular disease research for 2013. 

Government Funding for NMD Research Largely Spared in Continuing Resolution

The congressional funding bill spared government programs that sponsor neuromuscular research, but it doesn't protect them from upcoming deep sequester cuts.
Article Highlights:

• Government programs that fund neuromuscular disease research fared well in the recent continuing resolution passed by Congress on March 21. The continuing resolution funds the government through the end of September 2013.
• Neuromuscular disease research is sponsored by several government agencies, including the National Institutes of Health, U.S. Food and Drug Administration, Centers for Disease Control and Prevention, and Department of Defense.
• The continuing resolution does not avert pending cuts caused by the sequester. MDA’s advocacy program “will continue to work to ensure that congressional appropriators understand the importance of this life-altering work … as decisions are being made about funding for fiscal year 2014.”

by Quest Staff on March 25, 2013 - 12:27pm

The news is generally favorable for many important government-funded neuromuscular disease research projects, in the wake of Congress’ recent passage of a continuing resolution funding the government through the end of September.

Most government operations, except those funded through the full-year appropriations bills, will be maintained at essentially the same level as fiscal year (FY) 2012. (The government's fiscal year begins on Oct. 1 and ends on Sept. 30 of the following year.)

Neuromuscular disease research projects are spread across several governmental agencies, including the National Institutes of Health (NIH); the Food and Drug Administration (FDA); the Centers for Disease Control and Prevention (CDC); and the Department of Defense (DOD).

• NIH and FDA: Both agencies received slight funding increases in the continuing resolution bill. These agencies fund basic, clinical and translational research into neuromuscular disease, as well as oversee the approval of new drugs, biologic products and medical devices.
• CDC: The funding bill maintained last year’s funding level for the CDC. This agency implements the muscular dystrophy program through the CDC National Center on Birth Defects and Developmental Disability (NCBDD), established by the MD CARE Act and the National ALS Registry at the CDC Agency for Toxic Substances and Disease Registries (ATSDR), established by the ALS Registry Act.
• DOD: One of the full-year appropriations bills to be included in the continuing resolution was funding for the DOD. Congress directed that FY2013 funding for amyotrophic lateral sclerosis (ALS) research be slightly increased and that funding be maintained at its current level for Duchenne muscular dystrophy (DMD). In fiscal year 2012, DOD funding for ALS research was $6.4 million, which will increase to $7.5 million in FY2013, and DMD funding held steady at $3.2 million.

“MDA is pleased that this congressional funding bill will continue to allow for the progression of vital research and critical therapy development,” said Annie Kennedy, MDA senior vice president for advocacy.

"Halting our discovery momentum at such a promising time by reducing federal scientific funding would be a ‘worst-case’ scenario. And since that potential still exists, we are continuing to work to ensure that congressional appropriators understand the importance of the life-altering work being funded by the NIH, FDA, CDC and DOD as decisions are being made about funding for fiscal year 2014.”

Kennedy noted that the continuing resolution does not avert the pending deep federal budget cuts known as the "sequester," although it does give more leeway to agencies in deciding how to make those cuts.

MDA is working with Representatives Ed Markey (D-Mass.) and David McKinley (R-W.Va.), and a coalition of national patient advocacy organizations to convince Congress to give full funding to medical research in the next fiscal year.

“Raise your voice,” urged Kennedy. “Tell Congress to provide full funding to vitally important research in 2014!”

InfoSearch for Diseases Launched

The Genetic Alliance launched their website today.  It is an information resource on over 13,000 health conditions including Kennedy’s Disease (spelled ‘Kennedy Disease’ in their database).  The website also lists the KDA as an Advocacy and Support Organization.  There are more detailed explanations under the general explanation in the ‘Jump to Topics’ section.

The press release states:

One Stop Shopping for All Diseases:

Genetic Alliance Launches Disease InfoSearch

WASHINGTON, DC – March 19, 2013 – Disease InfoSearch (www.DiseaseInfoSearch.org), a one-stop shop for information and engagement on more than 13,000 conditions, launched today. Disease InfoSearch connects healthcare providers, researchers and the general public with support groups, relevant and timely peer-reviewed articles, open and appropriate IRB-approved clinical trials, and general disease information. Each condition page also features an interactive tool that enables individuals to contribute to biomedical research by securely sharing their health information.

For the past 26 years, Genetic Alliance has connected individuals to advocacy and support organizations. The release of this new online database marks a dramatic expansion in the information available for both common and rare diseases. Genetic Alliance takes a novel approach to the management of disease-specific information, calling on experts—disease advocacy organizations—to provide current, quality information on their respective conditions. This tailored information is supplemented with resources from quality federal databases, distilled through consumer-tested algorithms, and presented in an accessible interface. Disease InfoSearch can now be used by the public to answer questions after a family member’s diagnosis, find a clinical trial, and more; by healthcare providers to offer point-of-diagnosis referral to support groups; and by the research community to identify disease advocacy organizations with registries and biobanks, and to facilitate collaboration with other organizations doing similar work.

“Compiling these resources in a single location makes it significantly easier for healthcare providers, researchers and the public to find the information they need about thousands of conditions,” said Sharon Terry, President and CEO of Genetic Alliance. “Empowering individuals and families is a vital component of our vision – a world in which those affected by genetic conditions have everything they need to live fully – and this project brings us one step closer to achieving that vision,” she said.

For more information, please visit www.DiseaseInfoSearch.org and watch our video http://youtu.be/BzUZxQWukVk.

About Genetic Alliance
Genetic Alliance improves health through the authentic engagement of individuals, families, and communities. Genetic Alliance is the world’s leading nonprofit health advocacy organization committed to transforming health through genetics and works to connect consumers to the smart services they need to make informed decisions about their health and healthcare. Genetic Alliance's network includes more than 1,000 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations. To learn more about Genetic Alliance, visit http://www.geneticalliance.org.

Now there is just one

I lost my brother yesterday. Kerm had Kennedy’s Disease, yet, he was one of the most positive people I have ever known. I don’t believe I ever heard him have a negative comment about living with this condition. And, that is saying a lot for someone who lived for 78 years.

In a family of ten children (seven boys and three girls), three were born with Kennedy’s Disease. Two of the three with the defect have now passed.

This last year was tough on Kerm. He came down with the flu a year ago January and it weakened him considerably. He recovered somewhat, but not fully. Even near the end when he could no longer dress himself and most food was almost impossible to swallow, he accepted it as just another day in the life of living with the disease. He never complained about something he could do anything about.

Kerm exercised almost every day. Whenever we were together, he would show me his latest exercises and how well off he was ‘at his age’. Whenever we talked, he always encouraged me by word and deed that living with Kennedy’s Disease was ‘mind over matter’. Kerm was just not a brother, he was a friend and also a role model in many ways.

Kerm will be missed, but, more importantly, he will be remembered.

Slowing Kennedy’s Disease Progression

MDA’s Quest Magazine published an interesting article reported by Amy Madsen on some recent research by a member of the Kennedy’s Disease Association’s Scientific Review Board. Dr. La Spada has been instrumental in Kennedy’s Disease research for many years.

While the research opportunity still needs further study and testing, preliminary findings reflect this could be a potential treatment.

Below is the Quest article.

______________________________

Arimoclomol Slows Disease Progression

in SBMA Mice

Mice treated with the small-molecule compound improved muscle strength, increased motor neuron survival and boosted production of a motor-neuron support molecule called VEGF


MDA research grantee Albert La Spada and colleagues have found that treatment with a compound called arimoclomol can help improve muscle function in mice with a disease resembling SBMA.

Article Highlights:

• An MDA-supported research team has shown that treatment with a small-molecule compound called arimoclomol improved nerve-cell survival, resulting in increased muscle strength and function in mice with a disease resembling spinal-bulbar muscular atrophy (SBMA).
• Arimoclomol is thought to work by inducing the heat shock response, which helps cells combat exposure to heat or other types of stress. 
• Although still early stage, the findings ultimately could lead to development of arimoclomol or similar compounds as a treatment for SBMA.

by Amy Madsen on March 4, 2013

Mice with a disorder mimicking human spinal-bulbar muscular atrophy (SBMA, or Kennedy disease) that were treated with an experimental therapy called arimoclomol showed improved nerve-cell survival, increased body weight, and better muscle strength and function than mice that didn't receive the treatment.

A small-molecule compound, arimoclomol is thought to work by inducing the heat shock response, in which levels of naturally occurring heat shock proteins (HSPs) increase when cells are exposed to heat or other types of stress.

The findings, which could lead to development of arimoclomol or similar compounds as a treatment for SBMA, were reported online Feb. 7, 2013, in Brain. MDA supported Albert La Spada at the University of California, San Diego, in La Jolla for his contribution to this work. (To read the full report, available for a fee, see Co-Induction of the Heat Shock Response Ameliorates Disease Progression in a Mouse Model of Human Spinal and Bulbar Muscular Atrophy: Implications for Therapy.)

Treatment began after symptom onset
Mice in the study were randomly assigned to two different groups, in which they were treated with 120 milligrams per kilogram of body weight per day of arimoclomol dissolved in drinking water (treatment group) or water alone (control group). Treatment began at 12 months of age, after symptom onset and lasted for six months through late-stage disease.

Results show that treatment with arimoclomol from the time of symptom onset dramatically delayed disease progression. When investigators examined 18-month-old SBMA mice, they found that those treated with arimoclomol:

• demonstrated significantly improved hind-limb muscle force;
• had 26.9 percent stronger muscles than did untreated mice;
• showed a 23-percent improvement in motor unit (a nerve cell and the muscle fibers it activates);
• had significantly increased muscle weight; and
• had a 28.4-percent increase over untreated mice in the number of motor neurons that survived.

Mice treated with arimoclomol also had higher levels of a protein called vascular endothelial growth factor (VEGF), a protein that may protect or nourish nerve cells.

Treatment with arimoclomol had no effect on muscle force in mice that didn't have an SBMA-like disorder. This, the investigators noted, suggests that beneficial effects of arimoclomol in the mice are likely due to specific effects of the drug on disease processes, as opposed to indiscriminate improvement of muscle force.

Arimoclomol activated the heat shock response
Several treatment strategies for SBMA have focused on inducing overexpression of heat shock proteins, such as HSP70 and HSP90. (HSPs can function as “chaperones” for other proteins, helping them fold into the right shape, preventing them from forming abnormal clumps and blocking cell death.)

Data from the current study showed that levels of heat shock protein 70 (HSP70) were 2.3 times higher in the spinal cord and three times higher in hind-limb muscles in mice treated with arimoclomol than in mice that didn't receive treatment. 

This upregulation (increase) of the heat shock response by treatment with arimoclomol may have therapeutic potential in the treatment of SBMA, the researchers say.

Participating in your diagnosis

As many of us who are living with Kennedy’s Disease, or other rare disorders, know, the road to a correct diagnosis can take a long time and it might be littered with one or more misdiagnoses along the way. For example, many of us were initially misdiagnosed with ALS.  And, even today, when some unknown health issue in involved, the diagnosis process can be just as long, expensive and frustrating.

The CostCo Connection magazine had an interesting article this month called, “Talk to your doc.” I felt the article emphasized something I have discussed several times in this blog – Advocacy. Dr. Leana Wen, author of “When Doctors Don’t Listen” explains that “often when a patient goes to a doctor, they have a series of tests to rule out problems, and patients often end up learning only what they don’t have, as opposed to an actual diagnosis of what they do have.”

Dr. Wen believes that medicine has evolved to a cookie-cutter approach that often leads to patients being mis- or undiagnosed after suffering the side effects of many unnecessary tests and months or even years of wondering what is happening within their body.

Her book includes the ‘8 Pillars to Better Diagnosis’ to help doctors reach the right diagnosis.

1. Tell your whole story. Even if your doctor is steering you away from a narrative and toward a cookbook world of chief complaints, tell your story.
2. Assert yourself in the doctor’s thought process. Find out what your doctor is thinking as he or she is listening to your history.
3. Participate in your physical exam. As your doctor is examining you, ask what he or she is looking for specifically.
4. Make the differential diagnosis together. Keep asking what else could be going on. Evaluate with your doctor the likelihood of each possible diagnosis.
5. Partner for the decision-making process. Partner with your doctor to devise a plan for narrowing down possible diagnoses.
6. Apply tests rationally. Do not just consent to tests. Ensure that your doctor explains why each test should be done and what the test will help determine or rule out.
7. Use common sense to confirm the working diagnosis. You should reach at least a working diagnosis at the end of every visit to the doctor. Make sure that the diagnosis makes sense.
8. Integrate your diagnosis into the healing process. Once a diagnosis is made, ask questions so you understand the possible treatments as well as the risks, benefits and side effects.

To learn more, visit www.whendoctorsdontlisten.com .