Category Archives: Muscular Dystrophy Treatment

Background: Duchenne muscular dystrophy, a progressive muscle disorder that occurs in males, causes a gradual decline in muscle strength. This progressive decline is associated with the development of scoliosis. Previous studies have shown that the use of glucocorticoids slows the progression of scoliosis, but it is unknown if the spine remains straight in the long term. We examined if glucocorticoid treatment has a long-term effect on the prevalence of scoliosis. Fifty-four boys who had been diagnosed with Duchenne muscular dystrophy while they were still walking were enrolled in a non-randomized comparative study of the glucocorticoid deflazacort. The families of thirty boys elected for them to use glucocorticoid treatment and the families of twenty-four boys elected for them not to have this treatment. The boys were matched for important baseline characteristics including age and pulmonary function. Every four to six months, they were examined for the development of scoliosis, and the duration of follow-up for surviving patients was fifteen years. Because surgery was recommended for spinal curves measuring >20 on sitting posteroanterior radiographs, a curve of this magnitude was used as the definition for a patient developing scoliosis. Five boys (21%) in the non-treatment group and one boy (3%) in the … Continue reading →

CAMBRIDGE, Mass. (TheStreet) -- A handful of pre-teen boys suffering with Duchenne muscular dystrophy have now been treated with Sarepta Therapeutics' (SRPT) eteplirsen for 84 weeks. The boys are still walking, defying the debilitating and progressive nature of a disease that would be forcing them into wheelchairs without treatment. As with previous updates from Sarepta's eteplirsen study, no significant safety problems were reported. No serious adverse events, no hospitalizations or treatment discontinuations. Well, there was one disruption in the study but it was actually more evidence of eteplirsen's profound benefit for DMD patients. Here's how Sarepta describes it: One boy in the placebo/delayed-treatment cohort was not able to perform the 6MWT at the Week 84 clinic visit due to a physical injury unrelated to treatment, and therefore had no 6MWT data captured at the Week 84 time point. The boy has recovered from the injury, continues to be ambulatory and is expected to be evaluated on the 6MWT at future clinic visits. Read more from the original source: Sarepta's Eteplirsen Walk-A-Thon Now Stretches For 84 Weeks … Continue reading →

From the first work by Drachman et al. that recognized a benefit from corticosteroids1 in boys with Duchenne muscular dystrophy through the excellent randomized controlled trials (RCTs)2-5 of the 1980s and 1990s, the recognition that daily corticosteroids benefit boys with Duchenne muscular dystrophy is clear. More than forty years of work with hundreds of boys have demonstrated that corticosteroids prolong walking and improve the strength of boys with Duchenne muscular dystrophy. Deflazacort, available in Canada and Europe, is not approved by the U.S. Food and Drug Administration (FDA) for use in the United States. However, there are extensive long-term positive data showing that it is effective in boys with Duchenne muscular dystrophy6,7. Although weight gain with deflazacort is less than that with daily prednisone, other side effects, including loss of height, loss of bone density, and cataracts, do occur. The study by Lebel et al. clearly adds to these data with, to our knowledge, the longest continual follow-up of a treated cohort. However, the known side effects have led to many alternative regimens and drug formulations. Intermittent corticosteroid dosing regimens, including the twice-weekly or alternate-day regimens, show promise in minimizing side effects8-10, but long-term follow-up is not yet available. Despite … Continue reading →

Shares of Sarepta Therapeutics Inc. jumped Wednesday, after the drug developer said its lead candidate, a potential treatment for Duchenne muscular dystrophy, continued to help patients in an extended mid-stage trial. THE SPARK: The Cambridge, Mass., company said patients taking the treatment, eteplirsen, saw less than a 6 percent decline in walking ability through 84 weeks. Some patients have been taking the drug for the study's entire duration, while others took a placebo for the first six months. The patients were evaluated with a six-minute walking test, and the drug appeared to be well-tolerated with no serious side effects. CEO Chris Garabedian said in a statement the company has now demonstrated walking stability for over a year and a half in boys who are 11 years old on average. He noted that many boys with Duchenne muscular dystrophy have lost their ability to walk by then. THE BIG PICTURE: Duchenne muscular dystrophy is a rare and fatal genetic disease that causes increasing muscle weakness and affects one of every 3,500 boys worldwide. Sarepta said death usually occurs before patients reach age 30. Sarepta has no drugs on the market. Eteplirsen is its most advanced product. SHARE ACTION: Up 4 percent, … Continue reading →

Crowdsourcing initiative will enable exploration of potential treatments in eight disease areas The National Institutes of Health has awarded $12.7 million to match nine academic research groups with a selection of pharmaceutical industry compounds to explore new treatments for patients in eight disease areas, including Alzheimers disease, Duchenne muscular dystrophy and schizophrenia. The collaborative pilot initiative, called Discovering New Therapeutic Uses for Existing Molecules, is led by the National Center for Advancing Translational Sciences (NCATS) and funded by the NIH Common Fund. The process of developing a new therapeutic is long and difficult. The average length of time from target discovery to approval of a new drug is more than 13 years, and the failure rate exceeds 95 percent. This failure rate means, however, that many existing partially developed compounds could be advanced to clinical trials more quickly than starting from scratch. With thousands of diseases remaining untreatable, there is a sense of urgency to accelerate the pace at which discoveries are transformed into therapies for patients, said Health and Human Services Secretary Kathleen Sebelius. This program helps forge partnerships between the pharmaceutical industry and the biomedical research community to work together to tackle problems that are beyond the scope … Continue reading →

Duchenne Muscular Dystrophy, or DMD, the most common form of muscular dystrophy, is a genetic disorder caused by a mutation in a gene that can code for dystrophin, a protein in the muscles. This disorder is terminal, and death usually occurs before the age of 30 for the patients. DMD, which is characterized by muscle weakness and calf enlargement, affects mostly boys. It is estimated that there are roughly 30,000 DMD patients in the U.S., EU and Japan. Currently, there is no effective treatment for Duchenne Muscular Dystrophy. Stem cells, gene therapy or small-molecule drugs are some of the therapeutic strategies that are being tested as a treatment for DMD. The common gene therapy approach for DMD involves adding a healthy copy of the gene to make up for the faulty gene, and there may be some unforeseen issues associated with it. But guess what? Duke University biomedical engineers have found a new approach to gene therapy, which they believe could be safer and more stable than the current methods. In the new approach, the faulty gene is fixed by making use of genetic 'editing' technique, to help make it start producing a functional protein again. The novel method was … Continue reading →

June 4, 2013 Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from Duchenne patients. Instead of the common gene therapy approach of adding new genetic material to "override" the faulty gene, the Duke scientists have developed a way to change the existing mutated gene responsible for the disorder into a normally functioning gene. The Duke researchers believe their approach could be safer and more stable than current methods of gene therapy. The researchers are now conducting further tests of this new approach in animal models of the disease. Duchenne muscular dystrophy is a genetic disease affecting one in 3,600 newborn males. The genetic mutation is found on the X chromosome, of which males have only one copy. (Females, with two X chromosomes, presumably have at least one good copy of the gene.) Patients with Duchenne muscular dystrophy cannot produce the protein known as dystrophin, which is essential in maintaining the structural integrity of muscle fibers. Over time, patients with the disorder suffer gradual muscle deterioration, which leads to paralysis and eventual death, usually by age 25. … Continue reading →

Tucson, Ariz. (PRWEB) May 30, 2013 The Muscular Dystrophy Association has awarded Valerion Therapeutics $1,195,762 to continue development of an experimental cell-penetrating treatment that may represent a unique approach to treating myotubular myopathy (MTM). The experimental treatment, 3E10Fv-MTM1, uses a cell-penetrating antibody to deliver myotubularin to muscle fibers. Myotubularin is the protein that is deficient in MTM1. Researchers at the Concord, Mass., biotech have taken a different approach to creating an effective enzyme-replacement therapy by utilizing an antibody-protein fusion that can penetrate the muscle cell. After receiving injections of 3E10Fv-MTM1 for only two weeks, mice showed improved muscle strength, function and structure. We are interested in this technology because it may provide a novel method of delivering proteins to muscle, said MDA Vice President of Research Jane Larkindale. In January, the company published data that showed that the technology allowed the protein to get into the muscles of a mouse model of the disease, where it had a positive effect on the disease course. It also may be able to be applied to other proteins for other diseases in MDA's program." MTM is an inherited muscle disease that can cause severe, general muscle weakness complicating basic activities such as breathing … Continue reading →

>>> now to the story of a mother facing both hope and heartbreak. her two sons have a deadly disease, but only one is getting a potentially life-saving treatment. here's nbc 's janet shamlian . >> reporter: against improbable odds, jen mcnairy has two boys are the same genetic disease that slowly robs children of their muscles. >> i can do it. >> reporter: muscular dystrophy is usually fatal by age 20. >> it was actually pretty shocking because i had been told that they couldn't both have it because i'm not a carrier. >> reporter: but that's just the start of jen's heartbreak. one of her children, max, is improving every day while 14-year-old austin is slowly dying. >> he can't get into a chair out of his wheelchair into his bed, onto the toilet. so he's become total care. >> reporter: max is getting better, she says, because only he qualified for the clinical trial of a promising drug. she says he's running around again, climbing stairs. he even joined a soccer team . is it fair to call it life changing? >> absolutely. it's a miracle. it really is a miracle drug . this is something that … Continue reading →

2013 Muscular Dystrophy Parent and Patient Conference at Nationwide Children's Hospital Every year, Nationwide Children's Hospital hosts a free conference for parents or caregivers of children with muscular dystrophy, as well as patients ages 5-... By: NationwideChildrens … Continue reading →