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December 2007
MDA NEWS RESEARCH NEWS Pass it along! |
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.
MDA NEWSCalifornia OKs Fill-the-Boot Process
With urging from MDA, this October California passed unique legislation making a traditional MDA fundraising activity — Fill-the-Boot — a little easier. Fill-the-Boot, in which donations are collected in a large fire fighter’s boot, is a favorite MDA fundraising activity of the International Association of Fire Fighters, MDA’s largest national sponsor. But in California, an ambiguous state law enabled some municipalities to restrict such events. Now, with the passage of California State Law 582, a specific process for obtaining Fill-the-Boot permits is on the books. MDA hopes the new law, which takes effect January 1, will serve as a model for similar legislation in other states. Improved Disease Pages Now OnlineMDA has updated the pages on its Web site that describe each of the neuromuscular diseases in its program, to include new information and links. Each disease page provides links to Research Updates, Quest articles, news items and listings of current clinical trials. The pages still contain definitions of each illness and links to the online MDA “Facts About…” booklets that address particular disorders. Go to www.mda.org/disease, then click on the name of the disease to learn more. Establishing A Stronger MDA Presence In Washington D.C.
MDA is opening a new advocacy office in Washington D.C., in order to boost the Association’s influence on matters affecting neuromuscular disease research and the care of individuals and families coping with muscle disease. Annie Kennedy, newly named MDA vice president of advocacy, will head the office. Kennedy has a long history of working for and with those coping with neuromuscular disease, having been with MDA almost a decade, most recently as director of the MDA ALS Division. MDA President and CEO Gerald C. Weinberg said Kennedy’s presence in Washington D.C., will ensure an even stronger voice in Congress for the families the Association serves. John Madden, Outback Steakhouse Team to Support MDAFamed NFL coach and broadcaster John Madden has joined Outback Steakhouse to raise $1 million to benefit MDA and the Juvenile Diabetes Research Foundation. The Outback Steakhouse Madden Miles campaign kicks off with a "Drive to a Million" effort — for every mile Madden travels to and from football games this season, Outback Steakhouse Inc. will match all contributions up to $200,000. And that's just the beginning. Madden will appear in public service announcements to raise TV viewers' awareness of MDA's battle against neuromuscular diseases. Fundraising events also will be held in NFL team cities and Outback Steakhouse restaurants. Visit www.outback.com/maddenmiles to learn more and to show your support through Madden Miles. On that Web site, click the MDA link to make a donation directly. Now in bookstores: “Augie’s Quest”
Augie Nieto, co-chair with his wife Lynne of MDA’s ALS Division has published the story of his battle with ALS, titled “Augie’s Quest: One Man’s Journey from Success to Significance.” (Augie’s Quest also is the name of MDA’s ALS research initiative, which is spearheaded by the Nietos.) Nieto, 49, of Corona del Mar, Calif., is co-founder and former president of Life Fitness, and current chairman of Octane Fitness. He learned in March 2005 that he has ALS. The book, available at bookstores and online booksellers, was co-written with author T.R. Pearson and published by Bloomsbury USA. Its story line follows Nieto’s journey from healthy and successful businessman, through his depression and thoughts of suicide when he found he had ALS, to his emotional renaissance as an innovative, business-savvy strategist in the battle against the devastating disease.
 RESEARCH NEWSFSH ResearchLarge gift funds new FSHD center
The University of Rochester Medical Center (URMC), site of an MDA clinic and ALS Center, has received a $7.1 million gift for neurological research from New York philanthropist and developer Richard T. Fields. The money will be used to create a research and clinical center of excellence for facioscapulohumeral dystrophy (FSH) named the Fields Center for FSHD and Neuromuscular Research. It will be an international collaboration between URMC’s Neurology Department and Leiden University Medical Center in the Netherlands. In 1990, scientists at Leiden were the first to map the genetic mutation for FSH. DUCHENNE MD RESEARCHPTC124 trials are encouraging
More promising word has emerged about PTC124, an oral compound developed by PTC Therapeutics of South Plainfield, N.J., with support from MDA. Continuing trials of PTC124 among boys with Duchenne muscular dystrophy (DMD) who have a particular type of genetic abnormality showed that after receiving the drug, about half of them began producing the critical protein dystrophin, which is lacking in DMD. The type of genetic abnormality that PTC124 targets is called a premature stop mutation, and it’s thought to be present in some 13 percent of boys with DMD. Related studies indicate that the drug is well tolerated at different dosage levels and has potential for treating other genetic diseases with similar cellular defects. AVI-4568 trial will start soon in U.K.AVI-4568 is a synthetic compound that, like PTC124, is designed to target certain genetic abnormalities that cause Duchenne muscular dystrophy (DMD), and allow production of the needed protein, dystrophin. AVI-4568, which causes muscle cells to leave out a portion of the dystrophin gene known as exon 51, was developed by an international research team including Stephen Wilton at the University of Western Australia and Judith van Deutekom of Leiden University in the Netherlands, both supported by MDA, in collaboration with AVI BioPharma of Portland, Ore. The trial of the new compound will take place in London and will include up to nine boys with DMD. In an earlier trial of a related compound, conducted in the Netherlands, four out of four boys with the targeted abnormalities began producing dystrophin in an injected muscle. SPINAL MUSCULAR ATROPHYNew standards aim to improve SMA clinical care
The International Coordinating Committee (ICC) for Spinal Muscular Atrophy (SMA) has released a “consensus statement” about standards of clinical care for people with SMA. The ICC was formed in 2005 under the auspices of the National Institutes of Health, and MDA supported the formation of an ICC SMA Standard of Care Committee. The consensus statement’s goal is to improve and standardize management of the disease as it pertains to diagnosis, pulmonary care, gastrointestinal and nutritional issues, orthopedics and rehabilitation and end-of-life issues. 
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