Category Archives: Muscular Dystrophy Treatment

21.08.2014 - (idw) Universitt Basel Advances in the treatment of muscular dystrophy: For the first time, a research team has succeeded in restoring a missing repair protein in skeletal muscle of patients with muscular dystrophy. Researchers from the University and the University Hospital of Basel, Department of Biomedicine and Clinic of Neurology, report their recent findings in the scientific journal Science Translational Medicine. When muscle cell membranes are damaged, the repair protein dysferlin is activated and reseals muscle membrane tears. If this repair protein is altered due to a genetic mutation, the body's own quality control system (the so called proteasome) identifies the protein as being defective and eliminates it. Without dysferlin, injured muscle cell membranes cannot be repaired, which leads to progressive loss of skeletal muscle cells and thus to muscle wasting. It appears that the body's own quality control system neutralizes mutated dysferlin even if the mutation does not actually impair its repair function. Repair protein reactivated The research group led by Professor Michael Sinnreich at the Departments of Neurology and Biomedicine at the University and the University Hospital of Basel had previously demonstrated that proteasome inhibitors can reactivate mutated dysferlin proteins in cultured muscle cells from muscular … Continue reading →

A new gene therapy developed by researchers at the University of Missouri School of Medicine has shown to protect mice from a life-threatening heart condition caused by muscular dystrophy. "This is a new therapeutic avenue," said Yi Lai, PhD, the leading author of the study and assistant research professor in the MU School of Medicine's Department of Molecular Microbiology and Immunology. "This is just a first step, but we hope this could lead to a treatment for people with this devastating heart condition, which is a leading cause of death for people with Duchenne muscular dystrophy." About one in 3,500 children, mostly boys, are born with Duchenne muscular dystrophy (DMD). They experience a progressive wasting away of muscles, starting in the legs and pelvis. Children with DMD have difficulty walking, and most need wheelchairs by age 12. As DMD depletes the skeletal muscles, it also causes the heart to decay. A weakened heart kills up to 40 percent of people with DMD, usually by their 20s or early 30s. DMD originates with mutations in a single gene. For more than two decades, researchers have explored using gene therapy, an experimental treatment, to replace the flawed gene with a healthy copy. … Continue reading →

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Sarepta Therapeutics, Inc., a developer of innovative RNA-based therapeutics, and Flagship Biosciences LLC, a leading tissue-based companion diagnostics firm, today announced a multi-year, multi-product partnership for the development of automated quantitative endpoint measurements in muscular dystrophy to support the advancement of Sareptas Duchenne muscular dystrophy (DMD) drug pipeline, including its lead candidate, eteplirsen. DMD is caused by the absence of functional dystrophin in affected patients muscle tissue. Dystrophin protein level is a fundamental biomarker used to assess therapies that aim to produce and restore the expression of dystrophin, such as exon-skipping therapies like eteplirsen. In order to optimally and efficiently evaluate therapeutic efficacy in patients, the next generation of protocols are being developed to digitally automate and standardize dystrophin measurement in tissue biopsies to speed the process while ensuring consistency. The establishment of these new standardized methods for automated quantitation is being enabled though the proprietary image analysis platform and digital pathology capabilities developed by Flagship. This newly established collaboration with Flagship demonstrates Sareptas commitment to enhancing the objective measurement of dystrophin in tissue samples for its growing pipeline of RNA-based therapeutics to treat DMD. The agreement between the companies also further strengthens Flagship Biosciences leadership role in … Continue reading →

Williston firefighters will be out on the streets of Williston Wednesday asking motorists to help Fill The Boot for the Muscular Dystrophy Association. Firefighters will be at the intersections of 11th Street and University and 6th Avenue West and 11th Street. The firefighters invite the Williston community to come out and support their efforts. Every dollar that passing motorists pitch into the firefighters boots, helps the Williston Fire Department provide medical treatment and support services to individuals and their families living with neuromuscular diseases in North Dakota and northwestern Minnesota. All the money raised is donated to the greater North Dakota chapter of the MDA. Thanks to the support and generosity of the citizens of Williston, contributions send area children to MDA summer camp and help support 350 local families affected by neuromuscular diseases. Forty kids from North Dakota, northwestern Minnesota and South Dakota attended MDAs summer camp in June of 2014. This is the 60th anniversary of the partnership MDA has with firefighters across the country, during which time they have raised over $570 million. Fill the Boot funds also are used to support some of the 350 worldwide research projects seeking better treatments and cures for the more … Continue reading →

by 13News Now WVEC.com Posted on August 14, 2014 at 9:44 AM Updated today at 12:49 PM CHESAPEAKE -- Fire departments across Hampton Roads will be asking you to help them Fill the Boot. The campaign in Chesapeake to benefit the Muscular Dystrophy Association is August 15th-17th and 22nd-24th. Every dollar that drivers pitch into the firefighters boots helps Local 2449 firefighters provide medical treatment and support services to individuals and their families living with neuromuscular diseases in the area. "We know the money we raise definitely makes a difference in the lives of people affected by neuromuscular diseases, and that it helps them get the care they need, said LOCAL 2449 Fill the Boot Coordinator, Chris Moore. Fill the Boot is a proud tradition for us, and its a great way for fire fighters to be out in the community reminding residents that we are here, always ready to help. The International Association of Fire Fighters has been a national MDA partner for more than 60 years and remains committed to the fight to end neuromuscular diseases. Fill the Boot funds also are used to support some of the 300 worldwide research projects seeking better treatments and cures for … Continue reading →

BRISTOL When city firefighters begin their annual fundraiser for muscular dystrophy research this weekend, they'll have a bit of extra motivation: The thought of 4-year-old Justin Bolduc. Justin, a Bristol boy who was diagnosed with muscular dystrophy two years ago, visited fire headquarters downtown on Tuesday with his mother, Sheri, and his older brother, Conner. Justin will be the "goodwill ambassador" for Bristol Firefighters Local 773's campaign for muscular dystrophy research, said Sean Lennon, a firefighter and union president. "Justin really enjoyed his time at the station and we are looking forward to a long friendship with him," Lennon said. Bristol firefighters will be on the streets Aug. 16 and 23 with their Fill The Boot fund drive, and Lennon is asking motorists in advance to take a minute to pitch in. Firefighters across the country do similar fundraising work around this time of year, and Lennon noted that Bristol has generated a significant amount for muscular dystrophy in the past. "Due to the generosity of Bristol residents we hope to continue to be one of the top cities again this year," he said. "I can't thank the residents of Bristol enough." The International Association of Fire Fighters began raising … Continue reading →

YUKON, Oklahoma - A Yukon family is shaken after learning their active teenage boy is battling one of the rarest forms of Muscular Dystrophy. The teen used to be a standout athlete, but now, he can barely stand up. Scotty Wooten has one of the only known cases of FSHD Muscular Dystrophy in Oklahoma. It weakens muscles in his face, arms and shoulder blades and has dramatically changed his life. Like any other 16-year-old boy, Scotty loves to play video games, but in the last two years, since he was diagnosed with the very rare Facioscapulohumeral Muscular Dystrophy, Scotty is forced to sit out. "I missed out on a lot of gym classes, which were pretty fun, because you usually get to play dodge ball," Scotty said. Scotty moves slower, gets tired faster, had to transfer to Yukon Alternative High School and can no longer play on a sports team like he used to. "Really liked sports, mostly baseball, enjoyed playing catcher," Scotty said. Scottys mother says it hurts to watch her son battle the disease. "Physically, Ive seen a lot of changes," explained Emily Wooten, Scotty's mother. "Scotty doesn't walk flatfooted like a normal person any longer. He walks … Continue reading →

FORT FRANCES, ONTARIO--(Marketwired - Aug. 1, 2014) - Muscular Dystrophy Canada and Safeway have launched their campaign to "Make Muscles Move" in support of those affected by neuromuscular disorders. Muscular Dystrophy Canada is partnering with Safeway stores in Northwestern Ontario and Western Canada from July 31 - August 15, 2014, to raise funds to support the Safeway Mobility Grant program, post-secondary scholarships for young adults and to fund important research. Rachel, a 20 year old who lives in the surrounding area and is affected by muscular dystrophy says, "Wow thank you Safeway Canada, and your mobility grant funding. Because of you I was assisted in purchasing a piece of equipment to assist in moving my legs. Since I received the equipment I have become much more independent. It has helped me maintain my leg strength and has allowed me to strengthen both my body and mind. This exercise device has also greatly reduced my leg pain caused by cramping. It allows me to exercise as I need in my home, so I now can reduce the amount of time spent in the community going through physiotherapy. This equipment is not available in the treatment centers, hospitals or community physiotherapy clinics, … Continue reading →

THUNDER BAY, ONTARIO--(Marketwired - Aug. 1, 2014) - Muscular Dystrophy Canada and Safeway have launched their campaign to "Make Muscles Move" in support of those affected by neuromuscular disorders. Muscular Dystrophy Canada is partnering with Safeway stores in Northwestern Ontario and Western Canada from July 31 - August 15, 2014, to raise funds to support the Safeway Mobility Grant program, post-secondary scholarships for young adults and to fund important research. Rachel, a 20 year old who lives in the surrounding area and is affected by muscular dystrophy says, "Wow thank you Safeway Canada, and your mobility grant funding. Because of you I was assisted in purchasing a piece of equipment to assist in moving my legs. Since I received the equipment I have become much more independent. It has helped me maintain my leg strength and has allowed me to strengthen both my body and mind. This exercise device has also greatly reduced my leg pain caused by cramping. It allows me to exercise as I need in my home, so I now can reduce the amount of time spent in the community going through physiotherapy. This equipment is not available in the treatment centers, hospitals or community physiotherapy clinics, … Continue reading →

KENORA, ONTARIO--(Marketwired - Aug. 1, 2014) - Muscular Dystrophy Canada and Safeway have launched their campaign to "Make Muscles Move" in support of those affected by neuromuscular disorders. Muscular Dystrophy Canada is partnering with Safeway stores in Northwestern Ontario and Western Canada from July 31 - August 15, 2014, to raise funds to support the Safeway Mobility Grant program, post-secondary scholarships for young adults and to fund important research. Rachel, a 20 year old who lives in the surrounding area and is affected by muscular dystrophy says, "Wow thank you Safeway Canada, and your mobility grant funding. Because of you I was assisted in purchasing a piece of equipment to assist in moving my legs. Since I received the equipment I have become much more independent. It has helped me maintain my leg strength and has allowed me to strengthen both my body and mind. This exercise device has also greatly reduced my leg pain caused by cramping. It allows me to exercise as I need in my home, so I now can reduce the amount of time spent in the community going through physiotherapy. This equipment is not available in the treatment centers, hospitals or community physiotherapy clinics, so … Continue reading →