MDA eUpdate - November 2009 | Muscular Dystrophy Association (USA)

Welcome to the MDA e-update, the Muscular Dystrophy Association's online newsletter that reports MDA's research breakthroughs and other information to friends whose support helps to make our programs possible.

HAPPY HOLIDAYS!

Falling leaves and chilly weather are upon us, and that means we’re fast approaching the festive days with which we bid adieu to the year. During this holiday season, MDA sends very special greetings and best wishes to all those in the “MDA family.”

MDA NEWS

'No to nasal spray' for H1N1 flu vaccine

MDA has alerted people with neuromuscular diseases not to get the H1N1 (swine flu) nasal spray vaccine because the spray contains a live virus that could cause complications in this population. The injected H1N1 vaccine is recommended instead. For more information, visit the MDA H1N1 Resource Center. Meanwhile, MDA continues to partner with Walgreens to offer free standard flu shots. Anyone registered with MDA who wants a standard flu shot (which does not cover H1N1) can contact his or her local MDA office (800-572-1717) for information about where these shots are available and how to obtain one.

Top achievement award goes to MDA physician

John Quinlan

John Quinlan of Lakeside Park, Ky., has been named MDA's Robert Ross National Personal Achievement Award recipient for 2010. This is the first time since the award was created in 1992 that the recipient is not only a person with a neuromuscular disease, but also a neurologist who treats others with neuromuscular diseases. Quinlan, 56, has facioscapulohumeral muscular dystrophy and directs the MDA Clinic at the University of Cincinnati. His dedication to helping others for more than 20 years embodies the spirit of the Personal Achievement Award, which recognizes the exemplary accomplishments and community service of people who have any of the diseases in MDA's program.

New book about Mattie Stepanek now available

Messenger: The Legacy of Mattie J.T. Stepanek and Heartsongs

The full and fascinating story of former MDA National Goodwill Ambassador Mattie Stepanek is now available in print. Messenger: The Legacy of Mattie J.T. Stepanek and Heartsongs was released in early November; on Nov. 3, Mattie's mother and the book's author, Jeni Stepanek, appeared on the television show “Good Morning America” to announce its release. The book is an inside look at the life of a very special young man who became a best-selling author and noted peacemaker before his death at age 13 from a form of mitochondrial myopathy. Messenger is available from major booksellers.

Especially in these trying economic times, the best holiday gift is the gift of hope. With your help, muscular dystrophy can be stopped. Please make your year-end gift today.

Energetic Abbey returns as Goodwill Ambassador

Returning in 2010 for a rare third term as MDA's National Goodwill Ambassador, 10-year-old Abbey Umali of Redlands, Calif., is charged up and ready to promote MDA's dual missions of help and hope. Abbey has a form of Charcot-Marie-Tooth disease (CMT) and walks with the help of leg braces.

Abbey Umali sings at a Burger King sponsor event.

In addition to traveling the country with her parents to speak at MDA events, Abbey made her fourth appearance this year on the MDA Labor Day Telethon, where she sang “For Good” from the Broadway musical “Wicked.” In 2008, Abbey made a $320 donation to the Telethon from proceeds from a lemonade stand. This year, she conducted a six-week “read-a-thon,” reading 35 books (minimum 100 pages each) and raising an impressive $5,385 — the first contribution posted on the 2009 Telethon tote board.

MDA equipment loan program busier than ever in 2008

A caregiver helps a man in a wheelchair navigate a ramp.

The number of assistive aids — wheelchairs, walkers, lift chairs, hospital beds, ramps, communication devices, etc. — that the MDA equipment loan program distributed in 2008 increased by 15 percent over the previous year. More than 6,200 items were loaned to individuals and families affected by muscle diseases. MDA's 200-plus local offices, which serve as distribution centers for the equipment, are always grateful for donations of gently used items from the public.

MDA salutes caregivers

The MDA ALS Caregiver's Guide is among the many caregiver resources provided by MDA.

November is National Family Caregivers Month, and MDA has taken this opportunity to honor all caregivers who — with extraordinary compassion and commitment — give so much of themselves for the health, well-being and independence of individuals with neuromuscular disease. “MDA Salutes Caregivers” is a new online feature that provides caregivers with information and resources, as well as a place for people to post caregiver tributes and send e-cards. All through November, videos will be posted featuring caregivers in the MDA family. In 2007, 34 million unpaid caregivers in the United States gave $375 billion worth of aid, according to AARP. MDA gratefully salutes these heroes who selflessly make life more livable for others.

Tax free, for now …

The tax laws of today may not be the tax laws of tomorrow — so don't miss out on this opportunity to donate to MDA. Tax law in 2009 provides that Charitable IRA Rollover gifts (up to $100,000) made directly to MDA are non-taxable — plus, rollovers count toward a taxpayer's Required Minimum Distribution. However, the future of charitable rollovers for 2010 is uncertain. Accordingly, now (no later than Dec. 31) is the time to move IRA assets to MDA while there are no negative tax effects. As always, check with your tax/financial advisers before making any changes to your IRA. MDA's Web site has more information on how to put this valuable option to work for you.

MDA now part of the Twitter universe

To boost its information outreach programs, MDA has joined the popular social media tool Twitter. Followers are notified about the latest research and MDA news as soon as it breaks, including action alerts for MDA advocacy efforts in Washington. Links connect to MDA's Facebook and YouTube sites. Anyone with Internet access can add himself or herself to the account by clicking to follow “tweets” at twitter.com/MDAnews.

RESEARCH NEWS

First ALS human stem cell trials are approved

For the first time in the United States, human stem cells will be used in trials to determine if they may be effective in treating ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease). The setting for the trials will be the MDA/ALS Center at Emory University in Atlanta; Jonathan Glass, director of the center, will be the principal investigator. Maryland biotherapeutics company Neuralstem is conducting the phase one trial, in which 12 patients will receive five to 10 stem cell injections in the lumbar area of the spinal cord. Primary goals of the trial are to establish safety and feasibility data; results are expected to be reported in two years.

Found: possible 'risk raisers' for ALS

The suspicion that ALS is not one but many diseases with differing combinations of causes got another boost recently. A multinational study of nearly 20,000 people with and without ALS found three DNA sequences that are significantly different in people with ALS and may contribute to development of the disease. Portions of the study were conducted by MDA grantees Simon Cornin and Orla Hardiman at the Royal College of Surgeons in Ireland. Study subjects were selected in the United States, the Netherlands, Ireland, Sweden, Belgium, the United Kingdom, France, Poland and Germany.

Large-scale trial of DMD drug under way

About 240 boys ages 10 to 18 with Duchenne muscular dystrophy (DMD) will participate in a one-year study of the drug idebenone being conducted in the United States, Canada and Europe. Some will receive the drug (called Catena in the U.S.); some will receive an inactive placebo. The study will measure changes in respiratory function, muscle strength, motor function and quality of life. Earlier studies of 21 boys with DMD showed Catena to be safe and well-tolerated, and also found improvements in muscle, including the heart, which is affected earliest and most severely in DMD. Pediatric neurologist Richard Finkel, co-director of the MDA Clinic at Children's Hospital of Philadelphia, will lead the North American investigation, which will begin recruiting participants in the U.S. and Canada early in 2010.

Obesity drug could have DMD, BMD applications

MDA-supported researchers at the University of Ottawa have found that an experimental drug being developed to treat obesity may have treatment potential for Duchenne (DMD) and Becker (BMD) muscular dystrophies. Mice treated with the drug produced increased levels of the muscle protein utrophin, which has been shown to partially compensate for dystrophin, the muscle protein missing or deficient in DMD and BMD. The team said the drug, which is being developed by pharmaceutical company GlaxoSmithKline, may have important therapeutic benefits for DMD patients, even after muscle atrophy appears.

Scientists make double discovery with Friedreich's ataxia

Researchers have identified the precise enzyme that seems to lead to Friedreich's ataxia (FA) and also have developed a compound that targets this enzyme. The enzyme causes a deficiency of the protein frataxin, which in turn causes the severe weakness, cardiac muscle deterioration and loss of coordination seen in FA. Scientists at Scripps Research Institute and Repligen Corp., including MDA grantee James Rusche, found that an experimental compound targeted this enzyme and increased levels of frataxin in the brain and heart, the two organs most affected by FA. The drug must be tested in human trials before it can be approved for use in people with FA.

Researchers 'fool' defective genetic material in MMD

Scientists at the University of Rochester Wellstone Muscular Dystrophy Cooperative Research Center in New York have used a synthetic molecule to block genetic instructions that cause myotonic muscular dystrophy (MMD). In MMD, flawed genetic instructions cause severe heart, brain and eye disorders as well as muscle weakness and atrophy. Working with mice, researchers at the center (which receives MDA support) found the synthetic molecule released proteins “held hostage” due to flawed genetic instructions. Once the proteins resumed their normal functions, the muscles showed improvements. Scientists will begin developing treatments for human MMD based on these results.

New NIH research leaders include MDA-supported trio

The National Institutes of Health (NIH) announced in October it would add 14 new research groups to its Rare Diseases Clinical Research Network, three of which will be directed by MDA-supported physicians and researchers. The groups will create international research networks to focus on history, epidemiology, diagnosis and treatment of diseases. MDA-affiliated group directors are:

Salvatore DiMauro of Columbia University, a world-renowned expert on mitochondrial and metabolic diseases;
Michael Shy, a leading researcher of Charcot-Marie-Tooth disease (CMT), head of the North American CMT Network (funded by MDA) and director of the MDA Clinic at Wayne State University in Detroit; and
Chester B. Whitley of the University of Minnesota, whose work includes an aggressive Pompe disease research program. MDA funded the basic research that led to the first specific treatment for this disease.

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