Category Archives: Muscular Dystrophy Treatment

NEW YORK Shares of Sarepta Therapeutics plunged Monday after the company said regulators want more data about its muscular dystrophy treatment eteplirsen before they will consider approving the drug. The Food and Drug Administration asked for three years of data on patients who participated in one study of the drug, an independent review of an important result, and more information about the drug's safety. Sarepta says the FDA wants to have further discussions and could impose more requirements later on. The company plans to file for approval of the drug again by mid-2015. Sarepta Therapeutics Inc. shares lost $7.32, or 31.1 percent, to $16.24 in morning trading. Eteplirsen is intended to treat Duchenne muscular dystrophy, a fatal genetic disease that causes increasing muscle weakness. It affects one of every 3,500 boys worldwide and the company says patients usually die before the age of 30. The drug is designed to address the cause of the disease by allowing the body to produce a functional dystrophin protein, which plays a key role in muscle fiber function. It is Sarepta's most advanced experimental drug and the company has asked the FDA for expedited approval. Sarepta said Monday that the FDA wants to see … Continue reading →

A heartbroken Birmingham mum has told how she may have to watch her seriously ill son die because of a delay in a life-saving medicine becoming available. Sarah Green's son Bradley, 11, has the life-limiting condition Duchenne muscular dystrophy, which will lead to his muscles wasting away over time. Sarah, 39, from Sheldon, said the family now face a race against time to save her son unless new a new drug called Translarna - given approval by the European Commission - is licensed quickly in the UK. She is backing a national drive called Fast Forward by the Muscular Dystrophy Campaign, calling for cutting edge treatments for sufferers to be delivered without delays. Translarna is currently going through NHS approval and funding processes and, if successful, it could be licensed as early as April 2015. But the cost of the drug on the NHS could restrict its use as treatments for other types of muscle-wasting conditions can be as high as 100,000 per year. A Government report revealed hundreds of children with life-limiting conditions could face agonising waits for new drugs to reach them because of the way they are funded and assessed. Sarah, a full-time carer to Bradley and … Continue reading →

The row surrounds mitochondrial DNA transfer, a technique that would offer parents at high risk of having children with severe disabilities such as muscular dystrophy a donor's DNA to mend genetic flaws. Legislation approving the procedure, which is outlawed in other European countries, is expected to be voted on later this year. The proposals have triggered fierce debate, with critics warning the "unethical" treatment would effectively create children with three parents and supporters saying it would help stop certain genetic defects from being passed on. Appearing before a Commons committee considering the legislation, Ms Ellison was asked whether the treatment would be made available to oversees citizens. "Over time we might expect that the procedure might be offered by centres to oversees patients," Ms Ellison said. "But that would be for individual clinics to assess each case and of course they would all have to work within the regulatory framework, and the clinics would assess the case and prioritise." Prof Sally Davies, the Government's Chief Medical Officer, added that "all oversees patients would pay the full cost" of treatment. Lord Allen, a cross-bench peer, said: "Turning the UK into a tourist destination, encouraging and enabling people to break the laws … Continue reading →

It might have been any group of settlers that brought the genetic mutation, unaware that it would pass from generation to generation. Now, hundreds of years later, many in New Mexico are still living with this incurable family curse. Dr. Sarah Youssof, a physician in the UNM Department of Neurology, is laying the groundwork for human clinical trials for this rare genetic disease known as oculopharyngeal muscular dystrophy (OPMD). She is working to develop outcome measures gauging the severity of the disease that can be used to evaluate treatment options. According to the Centers for Disease Control and Preventions website, OPMD is a type of muscular dystrophy that causes degeneration of certain muscles initially muscles in the eyes and throat leading to difficulty swallowing and opening the eyelids. OPMD can also cause weakness in the limbs, and symptoms of OPMD typically appear around middle age. The disease affects approximately 1 in 100,000 people, CDC officials said. However, its far less rare in New Mexico than in any other area of the country. While it is an extremely rare disease there are fewer than 150 definite cases in the state approximately 12 times as many Hispanics in New Mexico have the … Continue reading →

A scientific team led by UC San Francisco researchers found that regulatory T cells (Tregs), a specialized subset of immune cells, suppress inflammation and muscle injury in a mouse model of Duchenne muscular dystrophy (DMD). The scientists said that Tregshave potential as therapeutic agents for DMD, an inherited disease that strikes children almost always boys and leads to progressive muscle degeneration and early death. They published their findings online October 15, 2014, inScience Translational Medicine. The researchers discovered that Tregs, which dampen immune responses, are found in the muscles of mice and humans with genetic mutations that lead to the development of muscular dystrophy, but not in the muscles of healthy wild-type mice or healthy humans. The finding indicates that the Tregsappear in muscle in response to the muscle injury, said lead investigator S. Armando Villalta, PhD, a postdoctoral fellow at the UCSF Diabetes Center. When we remove Tregsfrom the muscles of the genetically engineered mice, the disease gets worse, said Villalta. When we boost the cells in mice, we reduce inflammation and muscle injury. According to Villalta, the healing effect is due in large part to interleukin-10 (IL-10), an anti-inflammatory protein produced by Tregsand other immune-regulating cells. IL-10 is … Continue reading →

Prosensa Holding N.V. ( RNA ) announced that it has initiated the process of rolling submission of a new drug application (NDA) to the FDA for its lead candidate, drisapersen, for the treatment of Duchenne muscular dystrophy (DMD). Drisapersen has Breakthrough Therapy Designation in the U.S. Moreover, the fast track status for drisapersen has made Prosensa eligible for making a rolling NDA submission for the candidate. According to Prosensa, DMD is a severely debilitating childhood neuromuscular disease affecting up to 1 infant in 3,500 live male births. This disease can also affect the respiratory and cardiac muscles, causing most patients to die in their early adulthood. No therapy has yet been approved in this indication. Currently, Prosensa has six DMD candidates in its pipeline, drisapersen being the most advanced one. Notably, all these candidates have orphan drug status in the U.S. and the EU. We note that Prosensa had previously completed a randomized, double-blind, placebo-controlled phase III study (results announced in Sep 2013) on drisapersen for DMD. However, the candidate had failed to meet the primary endpoint in this study. The company started re-dosing patients in Sep 2014. Meanwhile, Prosensa is making the rolling submission of the NDA for drisapersen … Continue reading →

Joshua Cashmore suffered from a muscle-wasting condition. THE parents of a bright teenager have spoken of their anguish after their son died aged 19. Joshua Cashmore suffered from a muscle-wasting condition called Duchenne muscular dystrophy, which left him wheelchair-bound. The youngster was one of the first people in the country to try steroid treatment to help with his condition after being diagnosed with the life-limiting illness. Now his dad Stuart and mum Kelly have paid tribute to their caring and loving son who died on October 2. Stuart, aged 36, of Rothley Green, Blurton, said: Joshua was my best friend and an amazing big brother to his four siblings. He was very bright and was well-liked by his many friends. No one ever had a bad word to say about him. Stuart added that Joshua loved watching all kinds of sports and was a keen supporter of Leicester City Football Club. Fans of the Foxes conducted a round of applause on the 19th minute at the home game against Burnley last Saturday in memory of the former Newcastle College student after supporters organised a Facebook campaign. And Stuart said many friends of Joshua had contacted the family to pay tribute … Continue reading →

Akashi Therapeutics Inc., a clinical-stage biopharmaceutical company, has acquired the rights to a drug that UB scientists have begun developing for Duchenne muscular dystrophy, a common, fatal genetic disease affecting young boys. The potential therapy is called AT-300. It is a modified form of a small protein UB researchers first discovered in the venom of the Chilean rose tarantula. AT-300 promises to slow the muscle deterioration that characterizes muscular dystrophy. In patients with dystrophy, genetic mutations weaken the membrane of muscle cells, enabling large amounts of calcium to infiltrate the cells. This sets off a chain reaction that leads to muscle degeneration. AT-300 has been shown, in laboratory studies, to stop the dangerous calcium influx by keeping pores called mechanosensitive ion channels shut when the muscle cells are stretched, says UB scientist Frederick Sachs, who led the research. The protein also holds promise for preventing cardiac failure, one of the most common causes of death in dystrophic boys, he adds. Akashi Therapeutics will fund further development of AT-300. The company is licensing the rights to the protein from Tonus Therapeutics, a UB spinoff Sachs co-founded with colleagues and a Western New York stockbroker whose grandson has Duchenne muscular dystrophy. About … Continue reading →

muscular dystrophy treatment From Mayopathy kappagam Treatment for muscular patients. By: Ramasamy J … Continue reading →

The Muscular Dystrophy Association is talking about the care of local patients a day before one of its largest fundraisers of the year, the MDA Lock-Up. But, as the MDA continues to help patients here in Texoma fight various devastating muscular diseases, one local doctor will no longer operate under the MDA umbrella. After more than three decades, Doctor Stephen Farmer has decided to shut down his MDA clinic in Wichita Falls.He'll still practice medicine, but his association with the MDA is going away according to letters sent to patients earlier this month.So now, local patients are being referred to specialty clinics in Fort Worth and Mansfield for treatment, where clinical trials and other specific treatments are available. Change is not always easy, though. James Terrell says after 14 years as his patient, Doctor Farmer will be terribly missed by his other patients as well, and some who are in worse shape than him. When I to an office visit, there's people in there that are in terrible, terrible shape. You know they can barely get to doctor farmer and they live right there, so now they're gonna have to drive two hours just to get to see a doctor, … Continue reading →