Category Archives: Muscular Dystrophy Treatment

Contact Information Available for logged-in reporters only Newswise LA JOLLA, Calif., April 11, 2014 A team of scientists led by Pier Lorenzo Puri, M.D., associate professor at Sanford-Burnham Medical Research Institute (Sanford-Burnham), in collaboration with Fondazione Santa Lucia in Rome, Italy, have published details of how a class of drugs called HDACis drive muscle-cell regeneration in the early stages of dystrophic muscles, but fail to work in late stages. The findings are key to furthering clinical development of HDACis for Duchenne muscular dystrophy (DMD), an incurable muscle-wasting disease. A symphony to rebuild muscle The research, to be published April 15 in Genes and Development, used mouse models of DMD to show how fibro-adipogenic progenitor cells (FAPs) act like orchestra conductors in the music of muscle regeneration. FAPs sit in the space between muscle fibers and coordinate a complex symphonyreceiving the notes that muscle has been damaged and directing muscle stem cellssatellite cellsto rebuild muscle. HDACis create an environment conducive for FAPs to direct muscle regenerationbut only during the early stages of DMD progression in mice, said Puri. At some point, DMD progresses to a pathological point of no return and become permanently resistant to muscle-regeneration cures and to HDACis. HDACis … Continue reading →

Firefighters MDA DAILY NEWS PHOTO/Marcelle Hanemann Local firefighters will ask passing motorists in Bogalusa to help Fill the Boot for the Muscular Dystrophy Association every Saturday this month starting tomorrow. The firemen will be on the street at Avenue B and Willis Avenue for about an hour and a half starting at 9 a.m. Union President Duane Fuller said every penny collected goes to the MDA. Shown are, Firefighter Dustin Knight, left, and Fuller. Posted: Thursday, April 10, 2014 11:45 pm Bogalusa firefighters hope to fill boots for MDA BY MARCELLE HANEMANN The Daily News The Daily News | Firefighters will be out on the streets of Bogalusa tomorrow and every remaining Saturday morning through April giving passing motorists the chance to help Fill the Boot for the Muscular Dystrophy Association. Local Union President Duane Fuller said this is the 60th year the International Association of Fire Fighters has partnered with the MDA to raise funds to fight the neuromuscular disease and to provide treatment and support to affected individuals and their families. The support even includes sending kids to camp, he said. Last year, in one day, we raised right at $1,300, Fuller said. This year were doing three … Continue reading →

[Submitted] Posted: Thursday, April 10, 2014 6:30 am Firefighters to raise funds for MDA at local Fry's Tribune East Valley Tribune Local 493 firefighters will be at Frys grocery stories in Phoenix, Chandler and Tempe to raise funds for the Muscular Dystrophy Association. The fire fighters will Fill the Boot on April 12, 19 and 26. Each dollar donated will help fire fighters provide medical treatment and support services to individuals and their families living with neuromuscular diseases in Arizona. Fill the Boot funds are also used to support some of 300 worldwide research projects to support treatments and cures for more than 40 neuromuscular diseases covered by MDA. Posted in Chandler, Tempe, Local, Money on Thursday, April 10, 2014 6:30 am. | Tags: Neuromuscular Disease, Muscular Dystrophy Association, Muscular Dystrophy, Social Issues, Firefighter, Health, Muscular Dystrophy Canada, Medicine, Fry, Tempe, Chandler, Neuromuscular Diseases, Mda, Chandler, Az, Tempe, Az View original post here: Firefighters to raise funds for MDA at local Fry's … Continue reading →

Published: Monday, April 7, 2014 at 7:59 p.m. Last Modified: Monday, April 7, 2014 at 7:59 p.m. That was what Terri and Bill Ellsworth expected for their son when doctors confirmed his diagnosis of Duchenne muscular dystrophy, a debilitating and fatal disease striking one in 3,500 boys. Instead, Billy has become an active, happy teenager who likes to dance to Beatles songs, walk around at classic car shows, hike on local trails and jog in his living room along with avatars of Michael Jackson and Elton John he created for his Wii video game. He's like a lot of other 13-year-olds but for an awkward gait and the Wednesday afternoons he spends at Children's Hospital of Pittsburgh of UPMC for an infusion of an experimental drug that's keeping his disease at bay and without any side effects. Billy, of Coraopolis, Pa., is one of a dozen Duchenne patients who are receiving eteplirsen as part of a clinical trial. The drug was expected only to slow the progression of the disease, but Billy and others in the trial are finding their symptoms are improving. Testing confirms that their lungs are getting stronger and their bodies are producing dystrophin, an essential protein … Continue reading →

BOSTON (MyFoxBoston.com) -- FDA Commissioner Margaret Hamburg responded Friday to the pleas of two local mothers trying desperately to get approval for a drug to treat their children who have a terminal illness. Fox25 Political Reporter Sharman Sacchetti asked Hamburg about Jenn McNary and Christine McSherry, two mothers who are pleading for the FDA to act on a drug approval for their sons with terminal illnesses. In an emotional plea on FOX 25, the mothers' asked the FDA to approve a drug called eteplirsen, made by the Cambridge-based company, Sarepta Therapeutics. They say it would help their children with Duchenne Muscular Dystrophy. Thursday one of the moms told FOX 25 that her one son on the drug is doing well, the other, who is not taking it, is not doing as well. The illness is terminal. When we asked the FDA commissioner what the holdup was, she said the company needs to submit an application. It's a complex process, and the mothers' say the FDA needs to first provide guidance to that company saying it has enough data to file an application. FOX 25 confronted the commissioner at the MassBio annual meeting in Cambridge, where she appeared alongside Senator Elizabeth … Continue reading →

PUBLIC RELEASE DATE: 31-Mar-2014 Contact: Edyta Zielinska edyta.zielinska@jefferson.edu 215-955-5291 Thomas Jefferson University (PHILADELPHIA) -- The code for every gene includes a message at the end of it that signals the translation machinery to stop. Some diseases, such as cystic fibrosis and Duchenne muscular dystrophy, can result from mutations that insert this stop signal into the middle of an essential gene, causing the resulting protein to be truncated. Some antibiotics cause the cell's translation machinery to ignore the stop codons and are therefore being explored as a potential therapy for these diseases. But new research reported online in Proceedings of the National Academy of Sciences (the week of March 31st) shows that this approach could come with the price of triggering autoimmune disease. "It's worth thinking about this as a potential mechanism for autoimmunity," says co-lead investigator, Laurence Eisenlohr, Ph.D., a professor in the department of Microbiology and Immunology at Thomas Jefferson University. Autoimmune diseases such as Crohn's disease, eczema, or lupus are caused by an immune system that attacks normal components of various tissues of the body. The immune system attacks these normal tissues just as it would attack tissue infected by a bacteria or virus. What causes the immune … Continue reading →

WASHINGTONA wheelchair by age 12, maybe 15 if he were one of the lucky ones. A ventilator would be next and then would come the casket, probably before he turned 30. That was what Terri and Bill Ellsworth expected for their son when doctors confirmed his diagnosis of Duchenne muscular dystrophy, a debilitating and fatal disease striking one in 3,500 boys. Instead, Billy has become an active, happy teenager who likes to dance to Beatles songs, walk around at classic car shows, hike on local trails and jog in his living room along with avatars of Michael Jackson and Elton John he created for his Wii video game. He's like a lot of other 13-year-olds but for an awkward gait and the Wednesday afternoons he spends at Children's Hospital of Pittsburgh of UPMC for an infusion of an experimental drug that's keeping his disease at bay -- and without any side effects. Billy, of Coraopolis, is one of a dozen Duchenne patients who are receiving eteplirsen as part of a clinical trial. The drug was expected only to slow the progression of the disease, but Billy and others in the trial are finding their symptoms are improving. Testing confirms that … Continue reading →

By Stacy Jacobson sjacobson@abcnews4.com MOUNT PLEASANT, S.C. (WCIV) -- For Caleb Sizemore, 16, some loads are a struggle. Caleb was diagnosed with Duchenne muscular dystrophy when he was 7. "Sometimes it's just coming to the realization that you won't live as long. But you just have to make the best of what you've got," he said. "He loses his muscle strength over time. It makes him weaker than most kids. Makes him, he has to take a battery of medicines," Caleb's father Richard Sizemore said. The Academic Magnet junior is on the school crew team, but he's also part of Caleb's Cure Team. "It's important to raise [money] because it goes to research for people who have Duchenne muscular dystrophy. I have a mild form of it, but a lot of people have a lot worse symptoms and they need to be cured," Caleb said. It's a grown-up outlook for a boy who's had to grow up faster than most. He's raising money for the Muscular Dystrophy Association to find a treatment, or even a cure. "I've learned a great deal from Caleb. Caleb's one of my heroes," his father said. "It makes me feel honored and it makes me … Continue reading →

Contact Information Available for logged-in reporters only Newswise DALLAS March 26, 2014 Today, were going to make history, said 18-year-old Eric Ramos on the day UTSouthwestern Medical Center doctors operated on his ailing heart. Eric, who has Duchenne muscular dystrophy, is one of only three patients in the United States with the condition to receive a battery-operated left ventricular assist device (LVAD) to keep his weakening heart pumping blood through his body. He is the first patient in the country to be given a specific, smaller LVAD, which means doctors would not need to manipulate his diaphragm, which could compromise his already limited pulmonary function. Duchenne muscular dystrophy, a recessive X-linked form of the disease, affects around 1 in 3,600 boys. Diagnosed at age 6, Eric has used a wheelchair for the past seven years because his muscles, including his heart and lungs, are rapidly degenerating. Nevertheless, Eric has the heart of a champion. He views his latest challenge as an unreal accomplishment and says he is honored to be part of history, paving the way for other Duchenne patients with advanced heart failure. Lead surgeon Dr. Dan Meyer, Professor of Cardio Thoracic Surgery and Director of Mechanical Assist Devices, … Continue reading →

When it comes to matters of the heart, people often respond with a gut reaction rather than a well-thought-out plan of action. When Ilan Ganot, a banker at JPMorgan Chase (JPM) learned his two-year-old son was diagnosed with Duchenne Muscular Dystrophy, a rare form of the disease, his world stopped. It was the worst thing in the world. In my life. No question, Ganot said. With no real background in medicine, but a heart full of hope, Ganot vowed to stop at nothing to help his son live. - Ilan Ganot A reaction from the heart, yes. But one also driven by intense dedication and well-planned determination to succeed. From Bank to Bedside Ganots son, Eytani, was born a healthy, happy baby boy. But a few months into his life, Ganot and his wife Annie began to notice differences from other children. (He showed) delays compared to his age group, Ganot said. Usually kids crawl at six months, he crawled at a year. Usually kids walk at a year, he didnt walk until about 18 months. Once the realization set in, Eytani went through a series of evaluations, and the diagnosis at the end was low tone, meaning the young … Continue reading →