Category Archives: Muscular Dystrophy Treatment

Swimmer Travels to Capitol Hill to Urge Congress toContinue Support of People with Duchenne Muscular Dystrophy WASHINGTON, Feb.7, 2013 /PRNewswire-USNewswire/ --Parent Project Muscular Dystrophy (PPMD), the leading non-profit in the United States focused entirely on Duchenne muscular dystrophy (Duchenne), welcomes 11-time Olympic medalist Ryan Lochte to their Annual Advocacy Conference in Washington, D.C., February 10-12, 2013. Lochte, one of the top American performers at the 2012 Olympic Games in London and a world record holder, is trading in his goggles and swim cap for a briefing binder and suit and tie to support families impacted by Duchenne. (Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) Lochte, 28, has been a volunteer spokesman for PPMD since the 2008 Olympic Games in Beijing. Joining PPMD's fight to end Duchenne is more than just a good cause for him; Lochte's uncle, Ron Sweitzer , had a brother who died from the disease. In turn, Ryan has made ending Duchenne a priority. To help achieve this goal, Lochte will return to Washington, D.C. with more than 100 advocates on February 11th to urge Congress to reauthorize The Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 (MD-CARE Act). The MD-CARE Act was first enacted in 2001 … Continue reading →

Public release date: 7-Feb-2013 [ | E-mail | Share ] Contact: Charles Casey charles.casey@ucdmc.ucdavis.edu 916-734-9048 University of California - Davis Health System Jacob Rutt is a bright 11-year-old who likes to draw detailed maps in his spare time. But the budding geographer has a hard time with physical skills most children take for granted -- running and climbing trees are beyond him, and even walking can be difficult. He was diagnosed with a form of muscular dystrophy known as Duchenne when he was two years old. The disease affects about 1 in 3,500 newborns -- mostly boys -- worldwide. It usually becomes apparent in early childhood, as weakened skeletal muscles cause delays in milestones such as sitting and walking. Children usually become wheelchair-dependent during their teens. As heart muscle is increasingly affected, the disease becomes life threatening and many patients die from heart failure in their 20s. Today, Jacob is one of 51 children participating in a nationwide clinical trial for a new type treatment that could offer help to those suffering from devastating neuromuscular disease. Clinical researchers at UC Davis Medical Center and a handful other research centers around the nation are testing a high-tech drug designed to fix … Continue reading →

Jan. 31, 2013 New design guidelines from researchers in Singapore simplify the development of targeted therapies for muscular dystrophy and other diseases. The dystrophin protein offers critical support to muscle fibers. Mutations affecting dystrophin's expression cause the muscle-wasting disease muscular dystrophy. In Duchenne muscular dystrophy (DMD), these mutations take the form of small sequence changes that make much of the dystrophin gene (DMD) untranslatable, yielding nonfunctional protein or no protein at all. Therapies based on a strategy known as 'exon skipping' could undo the damage from these mutations. Development of such treatments is set to accelerate, thanks to research by a team led by Keng Boon Wee of the A*STAR Institute of High Performance Computing and Zacharias Pramono of the National Skin Centre in Singapore. Proteins are translated from messenger RNA transcripts of genes; however, only certain RNA regions -- known as exons -- actually encode protein, and these are enzymatically spliced together prior to translation. Several clinical studies have demonstrated that small 'antisense oligonucleotide' (AON) molecules that bind mutated DMD exons can induce elimination of those defective exons during splicing, yielding shorter but largely functional versions of dystrophin. "We are cautiously optimistic that AON-induced exon skipping could be the … Continue reading →

DALLAS--(BUSINESS WIRE)-- CureDuchenne, a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy, will host a Bowling to CureDuchenne fundraising event on February 10 at Lewisville Lanes in Lewisville, Texas. Sports celebrities from the Dallas Cowboys, Texas Rangers and an Olympic Champion including Rocket Ismail, Tony Banks, Larry Brown, Billy Joe DuPree, Jose Guzman, Pete Hunter, Robert Newhouse, Nate Newton, Carly Patterson, Drew Pearson, Preston Pearson, Jeff Russell, Don Stanhouse and Everson Walls will bowl with community members to benefit CureDuchenne. The Bowling to CureDuchenne event is in honor of Nathan Rothe, 10, who lives with Duchenne. Duchenne is a progressive muscle-wasting disease that impacts 1 in 3,500 boys. Boys are usually diagnosed by 5, in a wheelchair by 12 and most dont survive their mid-20s. Ted and Jessica Rothe, from Highland Village, are organizing the event. All proceeds of Bowling to CureDuchenne will benefit CureDuchenne, the leading organization funding research through venture philanthropy to find a cure for Duchenne. When Nathan was diagnosed with Duchenne at age 5 we were devastated to learn there is no cure or treatment, said Jessica Rothe. Now there are a lot of exciting things happening in Duchenne … Continue reading →

Support group set up for muscular dystrophy sufferers 8:54am Friday 1st February 2013 in News By Richard Catton, richard.catton@thepress.co.uk A SUPPORT group for people with muscular dystrophy has been set up by a York woman whose father died at the age of 58 following a long struggle with the disease. Clare Russell, 30, from Clifton Moor, set up the fundraising and support group after seeing her father, Peter, battle the illness for years, and is kicking off 2013 with a huge fundraising campaign which she hopes will raise 10,000 for research into the muscle wasting condition. She said: My father passed away in November 2011. He had the illness for years and my mum was his carer for a long time. After my dad passed away we met up with some ladies from the Muscular Dystrophy Campaign and we had the idea of fundraising. We said we just wanted to do some different things to raise money. Her determination to raise 10,000 will see Clare attempt her first skydive in march and she has also organised a charity ball to take place two weeks later. Last year she joined her mother Jane, 53, brother Chris, and his girlfriend, to complete … Continue reading →

University of Florida to Receive $59,000 Grant from Duchenne-specific Organization HACKENSACK, N.J., Feb. 1, 2013 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) announced that it has funded $59,000 to Krista Vandenborne, PhD of the University of Florida in Gainesville to test the ability of magnetic resonance imaging (MRI) to detect changes in the muscles of those living with Duchenne muscular dystrophy (Duchenne) who participated in the Sarepta phase II trial of Eteplirsen. (Logo:http://photos.prnewswire.com/prnh/20100119/DC39975LOGO) "This supplemental funding from PPMD allowed us to very quickly take advantage of a trial in progress to see if MRI can detect changes in the amount and quality of muscle in response to an experimental treatment," said Dr. Vandenborne. Eteplirsen is an antisense oligonucleotide-based drug that allows skipping of exon 51 in the dystrophin gene. For approximately 13% of those with Duchenne, skipping exon 51 may lead to the production of a shorter, but functional dystrophin protein. Sarepta Therapeutics recently completed a phase II study of the drug in 12 participants and found evidence of dystrophin production and some improvement in the distance walked in six minutes. Although the six minute walk test has been used as a primary outcome in almost all of the current … Continue reading →

By Jordo Bivona - January 31, 2013 | Tickers: CELG, GILD, SRPT | 0 Comments Jordo is a member of The Motley Fool Blog Network -- entries represent the personal opinions of our bloggers and are not formally edited. Presentingat the 31st Annual JPMorgan Healthcare Conference, Sarepta Therapeutics (NASDAQ: SRPT) CEO Christopher Garabedian focused primarily on the company's Duchenne muscular dystrophy program. Duchenne Muscular Dystrophy is a disease that is characterized by patients being unable to produce the essential protein Dystrophin. Because of this lack of Dystrophin, patients end up on a progressive track towards losing the ability to walk by their pre-teen years, and have a life expectancy into their 20s, rarely living beyond the age of 30. Dystrophin is the shock absorber of the muscles and allows people to maintain good muscle function into their adult lives. The company's drug, Eteplirsen, is an anti-sense Oligonucleotide with a very different backbone structure than seen in any other RNA therapeutics. The drug is made by manipulating RNA, or ribonucleic acid, which controls protein synthesis. The company is working on using its technology to direct alternative splicing to repair the RNA mutation and restore the translation to produce the protein. The … Continue reading →

Earlier this year, Shelby Shores got into a bit of trouble at school. Well, not so much at school, but at home. It was for something that Shelby did at school. Shelby is in the fifth grade and attends Carthage Middle School, and what she did was something that, on the surface, doesnt seem like such a big deal. Shelby ran during her gym class. One of Shelbys friends saw her running and later mentioned it to her mom, who called Shelbys mom, Claire. I told her that she knows shes not supposed to be running, and she said, But Mom, I just want to be like everyone else, Claire said. Unfortunately, in some ways, Shelby is not like everyone else. Shelby has benign connective hypotonia, which is a fancy term for a form of muscular dystrophy that causes low muscle tone and strength, which makes a seemingly simple task such as running difficult. There are a lot of tough things about muscular dystrophy but one of the toughest, I imagine, is dealing with the fact that you cant do things other folks take for granted. For Shelby, Claire said, middle school has made her try to accept the fact … Continue reading →

Newswise Tyler Wertz, 18, and his 16-year old brother Austin Tucker, fight, tease, love and support each other like most brothers do. Unlike most brothers, however, they share the same uncertain futureboth have heart assist devices keeping them alive while they struggle with a debilitating disease. As young boys, Tyler and Austin were diagnosed with Beckers Muscular Dystrophy, a disease that slowly weakens the arms and legs and damages the heart. Sometimes Ill be walking and Ill fall down for no reason, Tyler said. It can be scary and embarrassing, but its just something I have to deal with. In 2010, Tylers heart condition became so grave that doctors at the Methodist DeBakey Heart & Vascular Center implanted a left ventricular assist device (LVAD), a battery-run device that assists the pumping of the heart, in an attempt to improve his quality of life. Austin received one in 2012. While most teenagers carry a backpack with books and other items, Tyler and Austin carry a small computer-controlled device powered by two batteries that always have to be charged. Sometimes Ill be in public and people will stare and ask me about it, Tyler said. Its overwhelming at times, but I know … Continue reading →

The MU School of Medicine made a breakthrough in research for a treatment for muscular dystrophy that has been more than 10 years in the making. Dr. Dongsheng Duan and a medical research team in the School of Medicine developed and published a Jan. 13 study on dystrophin gene therapy for the muscular disorder Duchenne Muscular Dystrophy. The breakthrough could lead to human testing of the treatment in the future, Duan said. DMD is the most severe of the nine genetic disorders, according to the Muscular Dystrophy Associations website. DMD causes muscles to slowly degenerate, leading to muscle weakness and, eventually, complete paralysis and death. Though women generally carry the disorder, DMD symptoms generally occur in men, the MDA website states. The disorder rarely appears in women and carriers often show no symptoms. Symptoms, which include difficulty sitting up and ascending stairs, usually begin to show between the ages of 3 and 5. Over time the DMD progresses to paralyze the legs, restricting the patient to a wheel chair, and then paralyzes the rest of the body. The MDA website states, survival into the early 30s is becoming more common, and there are cases of men living into their 40s … Continue reading →