Category Archives: Muscular Dystrophy Treatment

Wall Street Journal (subscription) Marathon Sells Muscular-Dystrophy Drug to PTC After Pricing Scrutiny Wall Street Journal (subscription) Marathon Pharmaceuticals LLC has struck a deal to sell its muscular-dystrophy treatment to PTC Therapeutics Inc., one month after Marathon's $89,000 price tag for the drug spurred an outcry from patient advocates and federal lawmakers. Marathon will ... PTC Therapeutics Announces Agreement to Acquire Emflaza for the Treatment of Duchenne Muscular Dystrophy in USPR Newswire (press release) PTC Therapeutics to Acquire Emflaza for Treatment of DMD in the USMuscular Dystrophy News Why Orphan Drug Act needs reformHot Springs Sentinel Healthcare Finance News -Stock Market Daily -Yahoo Finance all 58 news articles » Read the original here: Marathon Sells Muscular-Dystrophy Drug to PTC After Pricing Scrutiny - Wall Street Journal (subscription) … Continue reading →

What Is It? Muscular dystrophy (MD) is a group of disorders that cause the body's muscles to become increasingly weak. Muscular dystrophy is an inherited condition. Types of muscular dystrophy include: Duchenne dystrophy This is the most severe type of muscular dystrophy. It is also the most common. In Duchenne dystrophy, the muscles produce abnormally low levels of dystrophin. Dystrophin is a muscle protein. When dystrophin levels are low, the membranes around muscle cells become weak. They tear easily. Eventually, the muscle fibers die. Duchenne dystrophy primarily affects boys. Women usually do not have symptoms of Duchenne dystrophy. But they can pass it on to their children. Becker-type muscular dystrophy Like Duchenne dystrophy, Becker-type affects dystrophin production and occurs in males. However, the illness is much rarer than Duchenne. And it causes milder symptoms. Some people have a form of disease that falls in between Duchenne and Becker-type. Myotonic dystrophy Myotonic dystrophy can occur in men and women. It is the most common form of adult MD. Symptoms often start in adolescence. Limb-girdle muscular dystrophy Limb-girdle MD affects muscles of the shoulders and hips. It includes several different illnesses. It can be inherited by both males and females. Facioscapulohumeral muscular … Continue reading →

March 3, 2017 A substance widely known as a villain for its role in causing obesity-related health problems has emerged as a possible hero in the fight against a debilitating genetic disorder. Research suggests that fructose, a sugar found in honey, fruits and vegetables, makes a type of molecular treatment for Duchenne muscular dystrophy more effective. Progressive muscle degeneration and weakness characterize Duchenne muscular dystrophy, which is caused by the absence of a protein, dystrophin, that helps keep muscles intact. Symptoms usually appear around age 4, first affecting the shoulders, upper arms, hips and thighs. Patients have a hard time rising from the floor, climbing stairs, keeping their balance and raising their arms. Ultimately, they require use of a wheelchair, and most die in their 30s when their cardiac and respiratory systems fail. Duchenne primarily affects males, and about one boy in 3,500 will be born with it. Hong Moulton of the Oregon State University College of Veterinary Medicine was part of an international collaboration that looked at fructose's ability to enhance the uptake and activity of antisense oligonucleotides, or AOs. Therapy with those molecules has been shown to restore some production of dystrophin, but efficiently delivering the molecules to … Continue reading →

EMA orphan designation is intended to encourage development of medicines for the diagnosis, treatment, or prevention of life-threatening or chronically debilitating conditions that affect no more than 5 in 10,000 people in the EU. Medicines that receive orphan designation are eligible for a number of incentives, including assistance with development of the medicine; reduced fees for marketing-authorization applications; and extended market exclusivity once the medicine is authorized. Orphan designation is conferred following a positive opinion by the EMA's Committee for Orphan Medicinal Products (COMP). About Resolaris aTyr Pharma is developing Resolaris as a potential first-in-class intravenous protein therapeutic for the treatment of rare myopathies with an immune component. Resolaris is derived from a naturally occurring protein released by human skeletal muscle cells. aTyr believes Resolaris has the potential to provide therapeutic benefit to patients with rare myopathies with an immune component characterized by excessive immune cell involvement. About LGMD2B Limb girdle muscular dystrophy (LGMD) refers to a group of rare genetic myopathies, of which there are more than 20 different subtypes, none with approved therapies. LGMD affects an estimated 16,000 patients in the U.S., approximately 3,000 of whom have LGMD2B. LGMD2B is a recessive genetic disease caused by a toxic … Continue reading →

Ronald Berenson, serial entrepreneur, is heading up DMD Therapeutics. (CoMotion Photo / Conrado Tapado) DMD Therapeutics, abiotechstartup that was spun out of the University of Washington by biotech entrepreneur Ron Berenson last year, is emerging from stealth mode. The startup announced that it raised a $400,000 seed fund round to pursue a possible treatment forDuchenne muscular dystrophy (DMD), a rare and severe form of muscular dystrophy. The funds come from three foundations dedicated to funding research for DMD treatments:Ryans Quest, Michaels Cause, and Pietros Fight. Inan SEC filing from last year, the company indicated it plans to raise $600,000 in initial funding. According to a news release, DMD Therapeutics first drug candidate was successful in preclinical trials in mice and will now move forward into human trials. The funds will fuel initialresearch and development efforts along with early manufacturing steps. Duchenne is a genetic disease that primarily affects boys. It causes muscles to become increasingly weak, meaning many who are affected lose the ability to walk and perform motor skills at a young age. This weakening of muscles eventually leads to death. Although there are some treatments that can limit symptoms of DMD, there are currently no treatments that targetthe … Continue reading →

Back to Browse Journals Drug Design, Development and Therapy Volume11 Kenji Rowel Q Lim,1 Rika Maruyama,1 Toshifumi Yokota1,2 1Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 2The Friends of Garrett Cumming Research & Muscular Dystrophy Canada, HM Toupin Neurological Science Research Chair, Edmonton, AB, Canada Abstract: Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,5005,000 male births that is characterized by progressive muscular deterioration. It is inherited in an X-linked recessive fashion and is caused by loss-of-function mutations in the DMD gene coding for dystrophin, a cytoskeletal protein that stabilizes the plasma membrane of muscle fibers. In September 2016, the US Food and Drug Administration granted accelerated approval for eteplirsen (or Exondys 51), a drug that acts to promote dystrophin production by restoring the translational reading frame of DMD through specific skipping of exon 51 in defective gene variants. Eteplirsen is applicable for approximately 14% of patients with DMD mutations. This article extensively reviews and discusses the available information on eteplirsen to date, focusing on pharmacological, efficacy, safety, and tolerability data from preclinical and clinical trials. Issues faced by eteplirsen, particularly those relating to its efficacy, will be identified. Finally, the place … Continue reading →

CHARLOTTESVILLE, Va. (NEWSPLEX) -- Researchers are getting millions of dollars to try and find a cure for a type of Muscular Dystrophy that usually kills young men by the time they reach their mid-20s. According to a release, Duchenne Muscular Dystrophy affects one in 3,500 boys, taking their ability to walk by the age of 12 and typically killing them in their mid-20s. While doctors do know what causes the disease, potential treatments for it have consistently failed. Now University of Virginia researchers will be looking to change that will the help of a $2.5 million grant from the National Institutes of Health. Members of the UVA School of Medicine and the School of Engineering and Applied Science will use the money to build a computer model of the disease to look at what may have undermined efforts to develop an effective treatment. Duchenne is caused by the lack of a particular cellular protein, called dystrophin, and researchers think the problems with treatments could be caused by differences in biomechanics and inflammation between lab mice and children. With the model, researchers will look to better understand how muscle damage and inflammation drive the disease, understand the relationship between movement and … Continue reading →

Karli Barnett, WMAZ 5:06 AM. EST February 27, 2017 A Dublin boy has become a pioneer in how doctor's treat a common form of Muscular Dystrophy. We first shared Addison Jones story back in 2015 when he started taking part in a medical study. Now, hes helping to make the treatment possible for other children like him. When we met Jones two years ago, he loved to race, and not much has changed. Addison in his own race of sorts -- one against a rapidly progressing disease. He has Duchenne Muscular Dystrophy, the most common kind. It typically affects boys and as he gets older, it's going to get harder to walk and stand. But two years ago, his grandfather John and his family found hope. Doctors selected him as one of 10 boys for a trial drug called Eteplirsen. Every Friday, Addison and his family make the trip all the way from Dublin to Children's Healthcare of Atlanta for his treatment. What started out as a trial, has now been FDA approved. Research shows Eteplirsen slows the disease's progression allowing children to walk for longer. Children with Duchenne's are usually wheelchair dependent by their early teens. Addison can still … Continue reading →

Duchenne muscular dystrophy affects one in 3,500 boys, stealing their ability to walk by age 12 and typically killing them by their mid-20s. Doctors know what causes the muscle-wasting disease, but, frustratingly, experimental treatments consistently fail. University of Virginia researchers are out to change that, however, with the help of a $2.5 million grant from the National Institutes of Health. Researchers at UVAs School of Medicine and UVAs School of Engineering and Applied Science will use the funding to build an astonishingly sophisticated computer model of the disease to unlock the mysteries that have undermined efforts to develop new treatments. The model will incorporate every aspect of the research process, from the lab mice in which experimental treatments often show promise to the children in which those treatments subsequently fail. By taking a holistic, multi-scale approach, the researchers intend to determine whats going wrong and pave the way for breakthroughs that are both long-awaited and desperately needed. Duchenne is caused by the lack of a key cellular protein, dystrophin. The UVA researchers suspect that the difference in response to treatments in mice and people is the result of differences in both biomechanics and inflammation. By creating this new model, the … Continue reading →

The U.S. Food and Drug Administration (FDA) has approved a drug meant to treat Duchenne Muscular Dystrophy. The drug, Emflaza (deflazacort), is available in both tablet and liquid form and can be used by patients ages five years and older. Duchenne Muscular Dystrophy is a rare genetic disorder that causes progressive muscle deterioration and weakness. Symptoms of the disorder typically appear between between the ages of 3 and 5affecting the patient for years to come. It is common for patients to die in their 20s or 30s. Emflaza is a corticosteroid that works to decrease inflammation and reduce the activity of the immune system, which thus improves muscle strength in patients. Though corticosteroids are used to treat Duchenne Muscular Dystrophy in foreign countries, the FDA was hesitant to approve the drug prior to extensive research and testing. The FDAs ultimate approval of emflaza was based on two studies showing that male patients who took the drug had improved muscle strength, giving them more years with the ability to walk. In one study, 196 male patients between the ages of five and 15 were tested. After 12 weeks, there were improvements, and muscles appeared to be stronger in patients that took … Continue reading →