Category Archives: Muscular Dystrophy Treatment

ScienceDaily (Aug. 22, 2012) University of Maryland (UM) researchers and collaborators report in the journal Science Signaling that skeletal muscle degeneration in Duchenne muscular dystrophy (DMD) is worsened by stiffening of the microtubule cytoskeleton that provides structure inside muscle cells. Duchenne muscular dystrophy occurs in about 1 out of every 3,600 male infants and "worsens quickly," according to the U.S. National Library of Medicine. It is caused by a defective gene for a protein (dystrophin) in the muscles and there is no known cure. The unique interdisciplinary study identifies new potential therapeutic targets for intervening in this devastating disease, says Christopher Ward, PhD, associate professor at the UM School of Nursing and senior author of the study. "We show that an enhancement in the microtubule network structure, a stiffening, underlies dysfunction in Duchenne muscular dystrophy," says Ward. The study is a follow-up to the discovery by Ward and others (Prosser et al. Science, 333, 2011) of a new signaling pathway called X-ROS signaling. It is a pathway by which the mechanic stress of stretching a muscle cell acts through the microtubule network to activate a small burst of reactive oxygen species (ROS), which is also known as free radicals. "In … Continue reading →

The Leclaire brothers were born with the same deadly disease -- Duchenne muscular dystrophy. Max, 10, is in a clinical trial for a new drug that has miraculously reversed some of his debilitating symptoms, but Austin, 13, has been turned away. Austin watches from his wheelchair as his younger brother's strength continues to return. Max was able to climb a big sledding hill in his Saxtons River, Vt., backyard, but his older brother's muscles are so weak, he can barely feed himself. The boys have the same gene mutation that the drug targets and will eventually kill them, but because Austin can no longer walk, he did not qualify for the trial. "My brother says he's doing it for me, that he's trying really hard," Austin told ABCNews.com. "That's why he wanted to do it." For the last 52 weeks, Max has been enrolled in a clinical trial with the drug eteplirsen, manufactured by Sarepta Therapeutics. Once a week, he receives intravenous infusions in a double blind study. But after only 16 weeks, his parents suddenly realized he was on the drug and not a placebo. Not only was the progression of the disease slowing down, "he has even gained … Continue reading →

NEWPORT BEACH, Calif.--(BUSINESS WIRE)-- Ryan Getzlaf, captain of the Anaheim Ducks, is hosting the second annual Getzlaf Golf Shootout on September 9 to benefit CureDuchenne, a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy. Gold medalist and NHL All-Star Getzlaf, along with Corey Perry, Anaheim Ducks; Dustin Penner, Los Angeles Kings; Kent French, the voice of the Anaheim Ducks; actor Kevin Connolly; and other hockey players, celebrities and community leaders will participate in the golf outing to support CureDuchenne. This spectacular charity event will be held at the Monarch Beach Golf Links in Dana Point. A pre-golf dinner reception will be held at Sutra in Costa Mesa on September 8 and will include a live and silent auction. Duchenne is the most devastating and lethal muscular disease in children. It impacts one in 3,500 boys. Boys are usually diagnosed at age 5, are in a wheelchair by 12 and most dont live past their mid-20s. CureDuchenne has funded seven research projects that have gone into human clinical trials. CureDuchenne supports the translation of research and development programs into the clinic to focus on developing potential therapies to transform the treatment of Duchenne. My … Continue reading →

Town and Gown runners raise 100K for charity 12:00pm Monday 13th August 2012 in News A RACE through Oxford has raised more than 100,000 for the Muscular Dystrophy Campaign. Funds are still coming in from the 3,000 runners who took part in this years Oxford Mail-backed Town and Gown 10km race in May. But organisers of the 31st annual event said well over 100,000 had now been raised for the cause. And the money is already beginning to be spent locally in Oxfordshire, with a team led by Prof Kaye Davies at Oxford University to find a potential treatment for Duchenne muscular dystrophy receiving a 50,000 grant towards its work following the event. The charitys head of event Emma Jones-Parry said: We are delighted with the success of this years event, and cannot thank our runners enough for helping us to soar over the 100,000 mark. Among those pounding the streets with a personal reason to do so were twin sisters Kate Welsby, who was six months pregnant at the time of the race, and Ellen Richards, who has the muscle weakening condition myasthenia gravis. Miss Welsby, from Botley, raised nearly 1,150 with her efforts. She said: Ellen and I … Continue reading →

Fairfield firefighters will conduct their annual "Fill the Boot" fundraising drive for the Muscular Dystrophy Association on Saturday, Aug. 18, outside Trader Joe's on Blackrock Turnpike. From 10 a.m. to 4 p.m., Fairfield's Bravest will at the 2258 Black Rock Turnpike grocery store soliciting donations that kids and grown ups alike can drop into a tall boot, the firefighters' union said in a news release. The drive is being conducted by Fairfield Local 1426 of the International Association of Fire Fighters. All proceeds go directly to the Muscular Dystrophy Association for research, treatment, medical devices for those afflicted with the disease and other purposes, according to the release. Muscular dystrophy refers to a group of more than 30 inherited diseases that cause muscle weakness and muscle loss -- many leaving children in wheelchairs, according to the National Institutes of Health. All forms of MD grow worse as the patient's muscles get weaker, and most patients eventually lose the ability to walk. There is no cure, and the MDA says it sponsors about 300 research project annually The international firefighters' union has been raising money fight MD for nearly 60 years, the union said, and has donated $450 million since 1954, … Continue reading →

Members of Waskom Volunteer Fire/EMS will again participate in the Annual Muscular Dystrophy Association Fill the Boot fundraising campaign on Labor Day, Monday, Sept. 3. The boot drive has been a community project of the Waskom VFD for a number of years and Waskom VFD members will be joining many other fire departments nationwide in raising money for MDA. Chief Murf King reports that VFD volunteers and emergency vehicles will be stationed at several major intersections in Waskom beginning around 8 a.m. Monday morning and the drive will last until early afternoon. Firefighters will be holding fire boots and will be asking that Waskom area citizens and persons traveling through the Waskom area make generous contributions to support MDA. Donations received will be turned in as part of effort to raise money for Jerrys Kids during the annual Labor Day Weekend nationwide telethon. Money raised in the Fill the Boot campaign help provide services and equipment to families in the Ark-La-Tex area and helps fund research projects aimed at finding causes, cures, and treatment for 43 neuromuscular diseases. More information on the local services provided by MDA can be obtained by calling the Ark-La-Tex office at (318) 742-3632. Waskom area … Continue reading →

CARLSBAD, Calif., Aug. 1, 2012 /PRNewswire/ -- Isis Pharmaceuticals, Inc. (ISIS) announced today that new preclinical data evaluating antisense compounds to treat myotonic dystrophy type 1 (DM1) were published in the journal Nature. These new findings show that antisense targeting of a toxic RNA, the disease causing component in DM1, resulted in reversal of disease symptoms that were sustained up to one year after treatment in a mouse model of DM1. "DM1 is a progressive disease that leads to the gradual loss of muscle function. Although DM1 is estimated to effect approximately 150,000 patients worldwide, there are no treatments available that could delay the onset of symptoms or slow down the progression of this debilitating disease. We are encouraged by these early results, which build on the groundbreaking work conducted by Dr. Charles Thornton at the University of Rochester Medical Center and others elucidating the mechanism of DM1. Using our antisense technology, we and our collaborators were able to target the toxic RNA, remove it and restore normal cell function," said Frank Bennett, Ph.D., Senior Vice President, Research at Isis. In the published study, Isis and collaborators from the University of Rochester evaluated antisense compounds in a mouse model of … Continue reading →

Researchers have successfully reversed symptoms of the most common form of adult muscular dystrophy in mice, pointing toward a possible treatment for humans. In a paper published in the journal Nature, scientists from the University of Rochester Medical Center and two drug companies -- Isis Pharmaceuticals and Genzyme -- describe how they attacked the disease by targeting "toxic" genetic messengers. "For 20 years, we studied myotonic dystrophy, hoping that someday we would learn enough to spot its Achilles heel," University of Rochester neurologist and senior author Charles Thornton said in a statement Wednesday. "This work comes close to doing that." Myotonic muscular dystrophy affects about 35,000 people in the U.S. Patients suffering from the disease find their muscles wasting away, leaving them weak. They also often cannot relax their muscles due to prolonged muscle contractions, meaning it can be hard for them to release their grip on a handle or move their jaw. The disease is caused by a genetic mutation that causes abnormal messenger RNA -- the genetic courier that's transcribed from DNA -- to accumulate in the nuclei of cells. That buildup causes an intracellular traffic jam that interferes with multiple proteins, including MBNL1, which is involved in … Continue reading →

ScienceDaily (Aug. 1, 2012) Scientists have reversed symptoms of myotonic muscular dystrophy in mice by eliminating a buildup of toxic RNA in muscle cells. The work, carried out by scientists at the University of Rochester Medical Center, Isis Pharmaceuticals Inc. and Genzyme, is published in the August 2 issue of Nature. After experimental antisense compounds were administered to mice twice a week for four weeks, symptoms of the disease were reduced for up to one year -- a significant portion of a mouse's lifespan. The investigators say that while the work is an encouraging step forward against myotonic dystrophy, one of the most common forms of muscular dystrophy, it's too soon to know whether the approach will work in patients. But they are cautiously optimistic, noting that the compound is extremely effective at reversing the disease -- whose genetic underpinnings make it particularly vulnerable to an antisense approach -- in a mouse model. "These results give us strong encouragement about the possibility of developing a treatment that could fundamentally alter the disease. It's an important step on a long path," said senior author Charles Thornton, M.D., a neurologist at the University of Rochester Medical Center who has been pursuing new … Continue reading →

Symptoms of a form of muscular dystrophyhave been reversed in mice, a research team including scientists from Isis Pharmaceuticals Inc.reported Wednesday. Chemicals injected into the mice rapidly reduced levels of toxic molecules that cause the disease, the scientists said. They reported their findings in the scientific journal Nature. It will take much more research before the treatment can be tried in humans, said an accompanying news article in Nature. "However, the path to success now seems clearly visible," the article stated. The chemicals work through Isis' gene-blocking antisense technology, which stops production of disease-causing proteins. The technology represents Isis' bid to become a powerhouse in discovering new drugs. Antisense drugs can theoretically work on a vast number of diseases. Shares of Isis, which is based in Carlsbad, closed Wednesday at $11.80, a loss of 32 cents for the day. That's still about 63 percent higher than Isis' close of $7.25 on Jan. 3, the first trading day of 2012. The team included Frank Bennett, senior vice president of research at Isis, and two other Isis scientists. Others are scientists at the University of Rochester Medical Center andGenzyme.Charles Thornton, a University of Rochester neurologist, was senior author. The disease is called … Continue reading →