Category Archives: Muscular Dystrophy Treatment

PUBLIC RELEASE DATE: 13-Nov-2014 Contact: Service de presse AFM-Tlthon gmonfort@afm-telethon.fr AFM-Tlthon @AfmPresse Duchenne muscular dystrophy is the most common neuromuscular disease of children (affecting 1 boy in 3500-5000 births). It is caused by a genetic defect in the DMD gene residing on the X chromosome, which results in the absence of the dystrophin protein essential to the proper functioning of muscles. The treatment being developed by researchers at Atlantic Gene Therapies, Gnthon and the Institute of Myology, is based on the use of an AAV vector (Adeno Associated Virus) carrying a transgene for the skipping of a specific exon which allows functional dystrophin production in the muscle of the patient. Safety, efficacy and stability of the treatment in dogs In GRMD (Golden Retriever Muscular Dystrophy) dogs the treatment aimed at skipping exons 6, 7 and 8 of the dystrophin gene. The product was given by loco-regional administration in the forelegs of 18 dogs who were followed for 3.5 months after injection. It was well tolerated by all treated dogs; no immune response against the synthesized dystrophin was observed. Exon skipping resulted in high levels of expression of dystrophin in the treated muscles. The results of this treatment also indicate that, … Continue reading →

In June Theodor Taussig, three, and his little brother Oskar, 11 months, were both diagnosed with Duchenne Muscular Dystrophy They cannot produce dystrophin - a protein needed to build upmuscles As a result every muscle in their small bodies is deteriorating inexorably There is no cure for the devastating and fatal genetic disorder Parents are determined to make each day happier than the last for the boys By Frances Hardy for the Daily Mail Published: 17:59 EST, 13 November 2014 | Updated: 11:32 EST, 14 November 2014 551 shares 87 View comments Theodor Taussig wants to paint, to plant his handprint on an empty canvas then smear the colours together until every inch of white is obliterated. This is the way with three-year-olds: art tends to involve free self-expression and a great deal of mess. Theos mum, Klara, indulges him. Its no problem. Ive got Wet Wipes, she says, And clothes can be washed. Oskar, 11 months, is cuddled by his big brother Theodor Taussig, three. In June both were diagnosed with Duchenne Muscular Dystrophy, a devastating genetic disorder - there is no cure View post: Parents of brothers with Duchenne Muscular Dystrophy fight to make each day happy … Continue reading →

It's supposedly getting easier for innovative drugs for rare diseases like Duchenne muscular dystrophy to reach the market. So why, asks Andy Extance, is hesitancy still proving devastating to desperate families? Had it begun five years earlier, Leo Le Gal's story would have followed a depressingly familiar pattern. Aged somewhere between 8 and 11, Leo would lose the ability to walk and go into a wheelchair. In his teens, he'd progressively lose the use of his arms and with them, his independence. And eventually, some time between the ages of 21 and 30, his heart and lungs would give out, causing him to suffocate. But today there is a tantalising hope. Leo's parents, Ruth and Damien, got him onto a clinical trial for a drug that promises a reprieve. It's one of three drugs that are trying a totally new approach: directly treating the genetic problem that causes his disease, Duchenne muscular dystrophy (DMD), rather than simply treating its symptoms. Trials like Leo's have sent parents scrambling to get their sons on them and have brought the drugs to the threshold of widespread availability. Yet if he weren't already involved, the drug would probably remain out of reach for him, … Continue reading →

HACKENSACK, N.J., Nov. 7, 2014 /PRNewswire-USNewswire/ --Eric Wang, Sharif Bordbar, Albert Almada, and Chris Anselmo, colleagues from MIT, Harvard, and Boston College, together with the Myotonic Dystrophy Foundation (MDF) and Parent Project Muscular Dystrophy (PPMD)will host the 2nd annual "Strength, Science, & Stories of Inspiration" event, on Friday, November 7, 2014, at the MIT Museum in Cambridge, MA. The event convenes stakeholders from the neuromuscular community, including patients, families, scientists, medical professionals, entrepreneurs, pharmaceutical leaders, venture capitalists, and non-profits. The event was started in 2013 by Eric, Sharif, and Albertresearchers at MIT and Harvard whose families are all impacted by muscular dystrophy in different ways. After meeting each other and sharing their stories, they soon realized that they represent a microcosm of relationships that exist within the muscular dystrophy community, and thought they could do more to connect other stakeholders in the Boston metropolitan areaa breeding ground for pharmaceutical companies, investors, and researchers. The three young investigators thought that the best way to move this forward would be to partner with advocacy organizations to create a networking event, bringing this thought full circle"We are elated to be hosting our second annual event at MIT with MDF and PPMD, both leaders … Continue reading →

First published in News by Matt Oliver, Reporter covering North Oxford, Jericho and Summertown. Call me on 01865 425498 CHRISTMAS has come early for one scientist hoping to develop a pioneering therapy to help people with a rare spinal condition. Professor Matthew Wood, of Oxford University, has begun a study part-funded by an 80,000 grant from the Muscular Dystrophy Campaign (MDC) and The SMA Trust into ways of helping those with spinal muscular atrophy (SMA). And it is work like his which is supported by the annual Spirit of Christmas charity concert performance held in Oxford. Money raised from the festive spectacular is used to invest in research projects such as those undertaken by Prof Wood. Our top stories He will investigate how molecular patches can be used to restart the production of a vital protein needed by nerve cells. They were first used to treat severe forms of muscular dystrophy, but it is believed adapting them could help up to 2,500 children and adults in the UK. Prof Wood said: With this important project we aim to develop a treatment for SMA and also develop much improved methods for getting these drugs directly to the brain and spinal cord, … Continue reading →

Treatment for Becker's Muscular Dystrophy Boy from Gujarat shows improvement in just 6 months after treatment for Becker's Muscular Dystrophy by dr alok sharma, After Treatment 1. Stamina has improve... By: Neurogen Brain and Spine Institute … Continue reading →

Photograph by Ryan PflugerLeffler's son Aidan was diagnosed with Duchenne in 2006 The 2014 World Cup elevated soccer to the top of Aidan Lefflers roster of obsessions, rivaled only by endangered big catsespecially jaguars, the coolestand Star Wars spaceships. In recognition of his new interest, hes set up a miniature soccer field with 4-foot-wide goals in his backyard in suburban Bellevue, Wash. Watch this! he shouts, preparing to fire a penaltykick. Small for his age, Aidan, 11, moves awkwardly, shoulders high and hunched. He uses a lightweight plastic beach ball, not a regulation leather soccer ball. He begins his approach, pulls back his right foot, andcollapses to the grass. Mitch Leffler, the sole spectator, moves toward his son. Im OK, Aidan says. I can do it. He struggles onto his hands and knees, raises his butt, places his hands one at a time on his thighs, and slowly pushes himself into an upright position. My leg just wasnt there, he says matter-of-factly. His father nods, and the game resumes. Aidan has Duchenne, the deadliest strain of muscular dystrophy. Its inherited maternally on the X chromosome and mostly afflicts boys. Parents typically sense something is wrong when their sons at 3 … Continue reading →

CLEVELAND and COLUMBUS, Ohio >> Data published today in the journal Molecular Therapy demonstrates initial clinical proof of principle of a gene therapy to increase muscle strength and function in Becker muscular dystrophy patients. The paper, titled "A Phase I/IIa Follistatin Gene Therapy Trial for Becker Muscular Dystrophy" describes results of the dose ascending trial to assess safety and efficacy in six patients with Becker muscular dystrophy. All six of the patients were followed at least six months and three of the patients were followed for one year with no drug-related adverse events reported. On average, the patients showed statistically significant improvement in six minute walk distance and in stair climbing tests. Additionally, muscle biopsy histology demonstrated reductions in muscle fibrosis and central nucleation, and improved muscle fiber regeneration. Muscle satellite cells were not reduced. Jerry Mendell, M.D., Professor at Nationwide Children's Hospital and lead author on the trial and manuscript stated, "This is the first gene therapy clinical trial to demonstrate functional improvement in any form of muscular dystrophy, and a major advance for those suffering with muscle disease." Brian Kaspar, Ph.D., Associate Professor at Nationwide Children's Hospital, author and compensated advisor and scientific founder of Milo said, "Upon … Continue reading →

Photograph by Ryan PflugerLeffler's son Aidan was diagnosed with Duchenne in 2006 The 2014 World Cup elevated soccer to the top of Aidan Lefflers roster of obsessions, rivaled only by endangered big catsespecially jaguars, the coolestand Star Wars spaceships. In recognition of his new interest, hes set up a miniature soccer field with 4-foot-wide goals in his backyard in suburban Bellevue, Wash. Watch this! he shouts, preparing to fire a penaltykick. Small for his age, Aidan, 11, moves awkwardly, shoulders high and hunched. He uses a lightweight plastic beach ball, not a regulation leather soccer ball. He begins his approach, pulls back his right foot, andcollapses to the grass. Mitch Leffler, the sole spectator, moves toward his son. Im OK, Aidan says. I can do it. He struggles onto his hands and knees, raises his butt, places his hands one at a time on his thighs, and slowly pushes himself into an upright position. My leg just wasnt there, he says matter-of-factly. His father nods, and the game resumes. Aidan has Duchenne, the deadliest strain of muscular dystrophy. Its inherited maternally on the X chromosome and mostly afflicts boys. Parents typically sense something is wrong when their sons at 3 … Continue reading →

There is currently no cure for muscular dystrophy (MD), but a variety of treatments can help manage the condition. As different types of MD can cause quite specific problems, the treatment you receive will be tailored to your needs. As your symptoms develop, the healthcare professionals treating you should advise you about the options. New research is investigating possible future treatments. Improved genetic testing can help if you are concerned about passing the condition on to your children. Read more aboutgenetic testing. As MD progresses, it weakens your muscles and you gradually begin to lose mobility and strength. These physical problems can be helped with the following: Once the chest muscles become too weak to control breathing properly, you may require machines to assist with your breathing and coughing, especially while sleeping. In people with Duchenne MD,corticosteroid (steroid) medication has been shown to improve muscle strength and function for six months to two years and slow down the process of muscle weakening. Steroid medication for Duchenne MD is available in tablet orliquid form, and current research suggests a daily dose is most effective. However, long-term use of steroids is associated with significant side effects, such as weight gain and excessive … Continue reading →