Kennedy's Disease Association

"Every few days a baby boy is born with this DNA defect"

[Note:  See KDA News archives (2010 and earlier) at the bottom of this page]

Check back regularly for updates on KDA News
and Events, and other relevant information

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Also check out:

* Research Updates under "Promote Research"

--or by following this link: Research Updates

* And, don't forget about the KDA Store

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• 11/28/11 - Videos of presentations at the 2011 KDA Annual Conference

Check out the video links to several presentations at the annaul conference:  http://www.kennedysdisease.org/promote-research/research-updates#Top

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• 11/24/11 - Happy Thanksgiving

• 09/06/11 - The 2011 KDA Conference and Educational Symposium

The Final Agenda is now available for downloading by following this link:  Agenda

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• 10/16/11 - KDA Fall Newsletter

The Fall KDA Newsletter is now available for downloading.  Click on this link to down the PDF file:  Fall Newsletter

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• 10/15/11 - KDA Awards $65,000 in Research Grants

Thanks to the generosity of its supporters, the Board of Directors of the Kennedy’s Disease Association announced today that they awarded three research grants.  The three recipients and a brief explanation of their research are shown below.

1.  Masahisa Katsuno, M.D. – Ph.D.,  Department of Neurology, Nagoya University Graduate School of Medicine

Amount  Awarded:  $25,000

Proposal:  Elucidation of neuronal death signaling pathways and development of disease-modifying therapies for Kennedy’s disease

Brief Explanation: Their lab has evidence that the synthesis of two proteins are affected by the defective androgen receptor in KD. They wish to determine if neuronal cell death is caused by the alteration in the levels of these proteins and if cell death can be prevented by the addition of drugs that target the activity of these proteins.

2.  Elise Kikis, Ph. D., Northwestern University

Amount Awarded:  $20,000

Proposal:  Modeling SBMA: from understanding proteotoxicity to identifying therapeutics

Brief Explanation: They believe that the specific cell death is due to the accumulation of misfolded proteins (the androgen receptor) and the inability of cells to handle this accumulation. They propose to use a new model organism (a little worm called C. elegans – a very common and important model system in biology) to examine how different cell types handle the misfolded proteins and genetically look for other proteins that may help the cell get rid of the messed up proteins

3.  Sara Parodi, Ph.D., Department of Neuroscience and Brain Technologies, Genoa, Italy

Amount Awarded:  $20,000

Proposal:  Identification of PKA signaling as a new therapeutic approach for SBMA

Brief Explanation:  There is evidence that the cell death may involve changes to the androgen receptor (specifically changes in which phosphate is added to the protein, a process called phosphorylation). They hope to determine whether this cell death can be stopped due to the activation of another protein, known as PKA.

• 09/06/11 - The 2011 KDA Conference and Educational Symposium

The conference is just around the corner!

Dates: Wednesday, November 9 through Friday, November 11, 2011

Download the PDF document to see all the details including the agenda and registration form:

1.  For KDA Associates - PDF

2.  For Researchers - PDF

Location:

The hotel is 25 miles from Ronald Reagan Airport, Arlington, VA and 38 miles from BWI, Baltimore, MD area.  The hotel does not offer any transportation services from the airports.  The cost of a taxi would be approximately $50 one way. The room rate is $109.79 plus tax and all 11 HC room are available.  Blocks of rooms are reserved for November 8, 9, 10.  Important:  When making reservations, mention that you are attending the KDA Conference.

• 08/20/11 - KDA Golf Scramble - Houston, TX

Past Board Member Murray Williams and several other associates are sponsoring a fund raiser in Houston, TX on October 1, 2011.

1st Annual KDA Golf Scramble

Jersey Meadow Golf Course, Houston, Texas

There are several ways you can support this event (participate, sponsor a hole, or make a donation).

For additional information download this PDF flyer.

• 07/28/11 - Raising Public Awareness of Rare Disorders

A special insert in the Washington Post this week highlighted rare diseases, the need for more treatments, and the challenges of having a rare disease.  Below are two of the several good articles that appeared in the Post.

Two of the articles are posted on the Living with Kennedy's Disease blog.  If you want to see the entire insert, contact the KDA at This e-mail address is being protected from spambots. You need JavaScript enabled to view it and we will email you a PDF file (2.6 mb).

• 07/24/11 - Orphanet Disability Project

The KDA received the following email from Orphanet.  It is a similar organization to the United State's NORD.  They are asking for help in further understanding the impact of Kennedy's Disease on people.  They sent a questionnaire (Word document) to be filled out.  I completed the questionnaire in about ten minutes.

If you are interested in completing the questionnaire, please contact the KDA at This e-mail address is being protected from spambots. You need JavaScript enabled to view it and we will email the document to you.  After completing the questionnaire, you can email it to This e-mail address is being protected from spambots. You need JavaScript enabled to view it .

Dear Sir / Madam,

Orphanet, the European portal and worldwide reference database for rare diseases and orphan drugs, wishes to invite you and/or members of your association "Kennedy's disease association" to participate in the description of disabilities related to the Kennedy disease.

As part of the first French national program for rare disabilities, Orphanet has been mandated by the French Solidarity Fund for Autonomy (CNSA) to document the functional consequences of rare diseases (disabilities). Your answers, and those of a medical expert and  a disability specialist, will enable us to provide an information on the disabilities encountered by the patients, which will be freely available on Orphanet website (www.orpha.net).  This data will allow health professionals, patients and their families, care and support facilities to learn about the impact of illness on their daily life.

To this end, we have developed a questionnaire which we would kindly ask you to complete (see document attached), covering all aspects of daily patient functioning. Could you please fill this form?

We attach particular importance to the involvement of the patient organizations in this project as you are most likely to provide us very precise information on the difficulties faced daily by the patients.

I remain at your disposal should you require any further information.
Thank you in advance for your contribution.

Yours sincerely,

Myriam de Chalendar

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Myriam de Chalendar
Base de données des maladies / Disease database

ORPHANET - INSERM SC11
Plateforme Maladies Rares / Rare Disease Platform
96 rue Didot
75014 PARIS
FRANCE

Tel: +33 1 56 53 81 51
Fax: +33 1 56 53 81 38

• 06/16/11 - Add the KDA Logo to the Helmet of Hope

As you know, we are working hard to help find a cure for Kennedy's Disease. Whenever an opportunity for foundation grants comes along we examine the requirements and proceed accordingly. This opportunity available to us today was brought to me by my son, Bob Tudor. He enjoys NASCAR and is a fan of Jimmie Johnson. He also knows we could sure use a $10,000 grant!

We need your help to qualify for this grant. You don't even need to be a racecar fan. You just need to be able to fill out the online form and provide a brief explanation of:

(1) Why you would like Jimmie Johnson to put the Kennedy's Disease Association (KDA) logo on his helmet, and,

(2) Why the KDA is important to you

You can submit your nomination anytime until July 13. However, the nomination process is already in progress. Every week until July 17 two charities will be selected so the earlier we get the KDA name in the hat the better. On September 10, Jimmie Johnson will wear the Helmet of Hope. All the details are explained on the website: http://www.jimmiejohnsonfoundation.org/Events/Helmet-of-Hope.aspx

The online form will ask for a required charity website. Here it is:

http://www.kennedysdisease.org

Entries are limited to one per person. For this reason we encourage you to share this letter with your family and friends to give us a better chance of winning the $10,000 grant.

Please join hands and let's work together to find a cure!

• 06/10/11 - Clinical Research Study on Kennedy’s Disease

Effect of Functional Exercise in Patients

with Spinal and Bulbar Muscular Atrophy

Number: 11-N-0171

A.  Summary: Background:

-Spinal and bulbar muscular atrophy (SBMA) is an inherited disorder that affects men. People with SBMA often have weakness throughout the body, including the muscles they use for swallowing, breathing, and speaking. We do not know if exercise helps or harms people with SBMA.

B. Objective:
-To see if a 12-week program of either strength exercise or stretching exercises will improve strength, function, or quality of life in people with SBMA

C. Eligibility:
-Participants will be men 18 years of age or older who have genetic confirmation of SBMA.
-They must be able to walk at least 50 feet with or without an assistive device such as a cane or a walker and stand for 10 minutes without using an assistive device.
-They must have access to a computer with an Internet connection.

D. Design:
-At the first visit to NIH (2 days), participants will have a medical history taken and undergo a physical exam. They will also have blood tests and an EKG, and complete questionnaires about mood, health, and exercise. Tests of muscle strength, balance, and endurance will also be done.
-Participants who qualify for the study will receive instruction about either strengthening or stretching exercises. They will do these exercises at home one to three times a week for 12 weeks.
-They will wear a small activity monitor while they exercise and record their exercise in a diary.
-At the end of 12 weeks, participants will return to the NIH for 2 days. They will undergo the same tests as they had on the first visit.
-Participants will receive follow-up phone calls and e-mails during the study and for 4 weeks after the last visit.

E.  Sponsoring Institute:

National Institute of Neurological Disorders and Stroke (NINDS)

F.  Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male

G.  Eligibility Criteria:

INCLUSION CRITERIA:
1. Genetically confirmed SBMA.
2. Ambulatory and walk a distance of at least 50 feet with or without a walker.
3. Able to stand for 10 minutes without the use of any assistive devices.
4. Willing to travel to the NIH at the beginning and end of the study.
5. Willing to participate in telephone monitoring.
6. AMAT score of less than 41, but greater than 14.
7. Male.
8. Willing to participate in all aspects of trial design and follow-up.
9. Access to a computer with an internet connection
10. Able to do all of the exercises according to the standards of the study examiners at the beginning and end of the study
11. Willing to forgo starting an additional exercise plan for the 12 week duration of the study
12. Age greater than 18 years

EXCLUSION CRITERIA:

1. Medical condition which would preclude exercise such as COPD, congestive heart failure, and cardiac arrhythmias.
2. Presence of an additional comorbid condition such as stroke, myopathy, or radiculopathy which also results in weakness.
3. Beginning a separate exercise program involving at least two weekly sessions of 20 minutes of exercise each within two months of the start of the trial.

Contact(s):

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793
Electronic Mail:  This e-mail address is being protected from spambots. You need JavaScript enabled to view it

• 05/05/11 - Susanne Waite is in second place in the Energizer "Hall of Fame" contest.  There are only eight days left to vote.  Please consider voting every day and let's help push her to victory.

Click on this link to cast your vote now:   www.energizerkeepgoinghalloffame.com/Finalists.aspx?finalists=SusanneWaite

• 04/21/11 - Susanne Waite on TV bringing awareness to the public about Kennedy's Disease

Follow this link to see the interview of Susanne (http://www.cbs47.tv/news/local/story/Coarsegold-Woman-Needs-Your-Vote/l-W5_BW9i0C-JqJSdDxr9g.cspx)

Susanne still needs your vote! The KDA is asking you to vote every day between now through May 13.  $5,000 will help fund more research projects this year.  See the article below (04/05/11) and click on the the link shown to vote today.  We thank you for your support.

• 04/10/11 - KDA Xpress - Spring Newsletter is available for download

Click on the following link to download the newsletter in a PDF format:  Spring Newsletter

• 04/08/11 - Cleveland, OH Family fights Kennedy's Disease

A Cleveland family discusses living with Kennedy's Disease.

Video:  http://news.yahoo.com/video/health-15749655/a-local-family-helps-spread-the-word-about-kennedy-s-disease-24828690

Article:  http://www.msnbc.msn.com/id/42475866/ns/local_news-cleveland_oh/

• 04/05/11 - Susanne Waite, KDA President Emerita and co-founder, has made it into the Top 10 and is a National Finalists for the Energizer "Keep Going" Hall of Fame Contest!

Thank you for your votes. The Kennedy's Disease Association will be receiving a $1,000.00 check for Susanne making it into the Top 10 Finalists!

• 04/01/11 - 2011 Research Grants are now available

The Kennedy’s Disease Association (KDA) is planning to fund one or more research grants this fall to further the understanding of the pathological mechanisms of Kennedy’s Disease.  The KDA projects that funding for each grant will be $25,000, but a $50,000 grant may also be available if recommended by the Scientific Review Board.  Applications from junior investigators and from senior post-doctoral fellows are encouraged.  Proposals must be received by Friday, June 17, 2011.  Click here to download the Microsoft Word 'Research Grant letter and guidelines'.

• 03/31/11 - Let congress know that we do not want to see NIH have their budget cut

Sign Online Petition to Tell Congress You Oppose NIH Funding Cuts

An Ad Hoc Group for Medical Research has circulated a link to an online petition opposing threatened budget cuts to the National Institutes of Health (NIH). As Congress moves to finalize FY 2011 appropriations, patient advocates and others are making their voices heard about the importance of maintaining strong medical research programs. The petition will be kept open until the FY 2011 spending bill is finalized. Sign the petition.

• 03/28/11 - Great News!  Susanne Waite made the Final Top Ten in the Energizer "Keep Going" Hall of Fame

Thanks to everyone's help that voted this last week, Susanne is a finalist.  She will immediately received a $1,000 donation to the KDA for making the Top Ten.  Should she win, the KDA will receive another $5,000 and Susanne will also recieve another $10,000 that will be donated to several other charities that are near and dear to her heart.  More information will become available within a week.

• 03/15/11 - Coarsegold Woman Nominated for Charity Work

by Margaret Carrero

A Valley woman may soon be inducted into a very special Hall of Fame.  Susanne Waite of Coarsegold was only 27 when she learned that her 35-year-old husband had Kennedy's Disease, a rare and degenerative neural-muscular disease that leads to muscle weakness and atrophy.

"It was tough," recalls Waite of the three years it took doctors to finally produce a diagnosis and even then she says, "...no one knew how long he'd live, how fast it would progress, if we had children what would happen, we couldn't get those answers."

So in August 2000, the Waite's took matters into their own hands by launching the non-profit "Kennedy's Disease Association" where they've been able to connect with others who are suffering from the disease, while raising money to fund research grants.

Waite says there may also be a promising new drug going into clinical trials over the next year, which would be a positive step toward battling a disease with no known cure.  Over the years, Kennedy's Disease has taken a toll on her husband who now has to use a wheelchair because it's grown increasingly more difficult for him to walk long distances.  "He's getting weaker but he has good spirits, and he's trying to do the best he can with what he has available as far as strength goes," adds Waite.

Earlier this year, Waite's mother nominated her for induction into Energizer's 2011 "Keep Going Hall of Fame" which recognizes everyday people for their extraordinary acts.  Waite has since been tapped as one of 100 semifinalists and jokingly alluded to being a "shoe in" because her nickname growing up was "energizer bunny".  Judges are expected to narrow down the pool to 9 Finalists by Thursday, March 17th, at which point Energizer Bunny Facebook fans will get the opportunity to vote for the 10th Finalist, all of whom will receive a $1,000 donation to the charity of their choice.  The 2011 Inductee will then be chosen by a public vote on Energizer's website beginning April 4th, with the winner being awarded a $10,000 cash prize plus another $5,000 donation to his/her favorite charity.  The winner will be formally inducted into the Hall of Fame by 2006 inaugural inductee, Cal Ripken, Jr., in June.

• 03/11/11 - Short video message on YouTube

  A daughter whose father has Kennedy's Disease has posted a short video on Kennedy's Disease and the need for a cure. 
  

• 03/11/11 -The following fund raising events will take place this year.

1.  On April 2 thru 4, 2011 - Sean Blasko will hold a plant and tree sale to benefit Kennedy's Disease research during the community-wide yard sale in Austin, TX.

2.  On May 15, 2011 - Carla and Stan Highe and family will sell 'KDA muscle shirts' at the Gilmore Car Museum "Dust Off" car show and swap meet. in Kalamazoo, MI.

3.  May, 2011 - Beth DuVall is at it again this year.  Last year, Beth raised $4,000 in donations for her "Running for a Cure" for the KDA.  She is hoping to top that amount this year and is asking for everyone's help to get the word out.  Please support Beth in her run that will take place in May.  You can make a donation directly to the KDA, PO Box 1105, Coarsegold, CA  93614 or via the Razoo Website which will add your donation to Beth's page which shows if she is on track to meet her goal or not.  http://www.razoo.com/story/Running-For-A-Cure-Part-Deux?1299045182

4.  On October 1, 2011 - Murray Williams, Ed Noack, Mike and Verna Noack and Charlie and Louise Goforth. will hold a  Golf Tournament to benefit Kennedy's Disease Research at the Jersey Meadow Club, Houston, TX.

• 03/09/11 - The 2011 KDA Conference and Educational Symposium

  Dates:  November 9, 10, and 11

Sheraton Baltimore-Washington Airport Hotel - BWI
1100 Old Elkridge Landing Road
Linthicum Heights, MD 21090

On Tuesday evening, November 8, there will be an informal (Dutch Treat) dinner for those arriving early.  Further details will be made available in the early summer.

• 03/07/11 - The 2010 KDA Conference and Educational Symposium

  The first two videos are now available for viewing. 
  (1) The role of the KDA  in Kennedy's Disease Research is presented by Ed Meyertholen. 
  (2) Family Planning: Kennedy's Disease Free Children through IVF is presented by Cliff Johnson from Australia.

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• 03/06/11 - Added additional Online Resources

  The internet has an abundance of information available for those living with a disability.  We added a page of online resources to help research opportunities available, benefits, and answer questions.

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• 02/23/11 - KDA 2010 Annual Report published

  The KDA had another busy year.  Read all about it by following the link.

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• 02/05/11 - Dr. J. Paul Taylor Awarded MDA Research Grant

  Dr. Taylor recently published study results identifying the specific mechanism by which mutations in the androgen receptor protein gene lead to toxicity and neurodegeneration in SBMA.

  J. Paul Taylor, associate member of St. Jude Children’s Research Hospital in Memphis, Tenn., has received an MDA research grant totaling $330,000 over three years. The funds will help support Taylor’s continued research into a number of possible therapeutic targets in spinal-bulbar muscular atrophy (SBMA).  In prior research funded by MDA, Taylor and colleagues developed a fruit fly model of SBMA and used it to determine how mutations in the androgen receptor (AR) gene lead to the death of motor neurons (nerve cells) and deterioration of muscle in this disease.

  
  Specifically, the study team determined that toxicity occurs only when mutant AR enters the cell nucleus and binds to DNA. The team determined that toxicity is mediated by a small interaction surface on AR called "AF2." The team also has determined that toxicity is strongly enhanced by a chemical modification called "sumoylation."

  Now, Taylor intends to continue along the same line of study, testing the validity of two therapeutic targets, AF2 and sumoylation, identified in his previous work.  The team will engineer new mouse models of SBMA, some carrying normal forms of AR and others carrying mutant forms of the protein that are defective in DNA binding, incapable of undergoing sumoylation, or have a disrupted or nonfunctional AF2 surface. In parallel, the team will work to identify small molecule inhibitors of these targets in their fruit fly model.  Findings derived from Taylor’s studies could lead to the identification of compounds that can be developed for human clinical testing.

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• 02/02/11 - Kennedy's Disease Association Launches New Website

  We have been working on it for months and it has been a labor of love.  Now that it has officially been launched, we will continue to look for ways to improve it.  The Board of Directors thanks Linda Stephens-Dyer of Zebra Graphic Designs for designing the website and leading the project.  We also wish to thank the website "testers" for their help.  A special thanks goes to Stan Highe for his thoroughness in the testing process and to Mike Goynes for his tenacity and diligence while working through the changeover to a new ISP.

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• 02/01/11 - Rare Disease Day is February 28, 2011

  Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year.  Anyone can be involved in Rare Disease Day and there are many suggested activities. The day has been established as a grassroots advocacy day and we encourage everyone to participate in some way.  This website focuses on Rare Disease Day activities in the U.S. To learn what’s happening around the world, go to the global Rare Disease Day website at rarediseaseday.org. What is a Rare Disease? In the U.S., a rare disease is one that affects fewer than 200,000 people. This definition comes from the Orphan Drug Act of 1983 and is slightly different from the definition used in Europe. There are nearly 7,000 rare diseases affecting nearly 30 million Americans. In other words, as many as one in ten Americans are suffering from a rare disease.  Besides dealing with their specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information, and get treatment. The rarity of their conditions makes medical research more difficult. For 2011, our focus is on disparities in access to services and treatment.  [Note:  The KDA is an active member of NORD and supports Rare Disease Day]

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• 01/25/11 - AndroScience Corporation Awarded a $3.8 Million

  A three year Milestone-Driven, Cooperative Translational Research Grant from the NIH to Develop an Oral Treatment for Spinal Bulbar Muscular Atrophy (Kennedy's Disease)

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KDA News Archives:

• 2010 KDA News
• 2009 KDA News
• 2008 KDA News