Category Archives: Muscular Dystrophy Treatment

It's actually a pretty good deal.Courtesy of Gilead Sciences Biotech giant Gilead Sciences ( gild ) is paying big bucks for the ability to speed one of its experimental treatments to the market. The firm paid $125 million to Sarepta Therapeutics to get its hands on a "priority review voucher," which can be used to reduce the Food and Drug Administration's review period for a drug from 10 months to six months, thereby potentially giving the company a crucial first-to-market advantage. Click here to subscribe to Brainstorm Health Daily, our brand new newsletter about health innovations. Sarepta won the coveted review voucher last September after receiving an approval from the FDA for the first drug in the U.S. to treat the rare movement disorder Duchenne muscular dystrophy. The agency's decision was hotly-contested as the treatment, called Exondys 51, hasn't actually proven its efficacy and has faced a revolt from some insurance companies , which are refusing to cover it. Sarepta chief Ed Kaye says that the money raised from its review voucher sale will go into funding R&D for future muscular dystrophy treatments. "The sale of the PRV provides an important source of non-dilutive capital to support the rapid advancement … Continue reading →

Clinical Advisor Emflaza approved by FDA for Duchenne muscular dystrophy Clinical Advisor Emflaza was approved by the FDA to treat Duchenne muscular dystrophy in patients 5 years and older. (HealthDay News) Emflaza (deflazacort) has been approved by the US Food and Drug Administration to treat Duchenne muscular dystrophy (DMD) in ... Continued here: Emflaza approved by FDA for Duchenne muscular dystrophy - Clinical Advisor … Continue reading →

In cells, DNA is first converted to RNA, and RNA is next converted to proteins -- a complicated process involving several other steps. Nonsense-mediated RNA decay (NMD) is a processing pathway in cells that, like a broom, cleans up erroneous RNA to prevent its productive conversion into an aberrant protein, which could lead to disease. In some diseases, like amyotrophic lateral sclerosis (ALS, also called Lou Gehrig's disease), excessive junk RNA is produced, possibly contributing to the disease. In such instances, more NMD is useful to get rid of the junk RNA. In other diseases, such as muscular dystrophy and cystic fibrosis, a decrease in NMD is a better option. In these diseases, the NMD pathway eliminates the RNA, resulting in a complete loss of the gene function. But a defective RNA may translate to a semi-functional protein, which is better than no RNA for protein formation in cells. And so, a tuned-down NMD is more useful. Sika Zheng, an assistant professor of biomedical sciences in the School of Medicine at the University of California, Riverside, and colleagues now report in the journal RNA that they have come up with a method in the lab that detects NMD efficiency inside … Continue reading →

LUDLOW, Ky. - First, shock from one Northern Kentucky community as it learned about the startling death of a disabled teenager. Now comes action. Over the past few days PatSchlicksupadmits there's beena lot to take in. "You just can't explain it. I was devastated," Schlicksup told WCPO on Thursday. Schlicksup didnt know 18-year-old Joseph Bishop, but he worked with Josephs mother. Schlicksup said Jamie Bishop called him Sunday and said her son had died "She said she had to take him off life support and she was real broken up about it," Schlicksup sai A few days later Schlicksup and the rest of the community learned that Jamie and her parents, Raymond and Sharon Martin, had been charged with second-degree manslaughter in connection with Joseph's death. A criminal complaint says the trio failed to provide adequate care and medical treatment for the teen, who was born with muscular dystrophy. Court documents say Joseph's mother and grandparents left him bedridden in their home for months. "It was a tragedy then, it's even more so of a tragedy in light of what all has happened," Schlicksup said. Schlisksup wanted to do something about it, so he created a GoFundMe page to help … Continue reading →

CNN FDA Approves Drug to Treat Duchenne Muscular Dystrophy, but Congress Has Problems ModernMedicine The FDA has approved the drug Emflaza (deflazacort) to treat patients 5 and older with Duchenne muscular dystrophy (DMD). The drug is available as both a tablet and an oral suspension. Although already in use to treat DMD around the world, this is the ... Families, lawmakers demand transparency for $89000 drugCNN DMD Access to Deflazacort Will Continue Amid Emflaza ControversyMuscular Dystrophy News FDA Approves Marathon's $89000 Muscular Dystrophy DrugSci-Tech Today Life Science Daily -The Pharmaceutical Journal -P&T Community all 45 news articles » Go here to see the original: FDA Approves Drug to Treat Duchenne Muscular Dystrophy, but Congress Has Problems - ModernMedicine … Continue reading →

By Brian Kennedy When the U.S. Food and Drug Administration approved a revolutionary medication for Duchenne muscular dystrophy in September, it marked a historic milestone for thousands of families with no treatment options for their loved ones. Developing new treatments for rare diseases can be a challenging process - oftentimes, it results in failure. The celebration has been short lived for some patients, families, and health-care providers. A number of health insurers are creatively denying treatment coverage for the 1,200 to 1,500 boys in the United States whose genetic mutation makes them eligible for the medication. In some cases, insurers are calling this breakthrough treatment "investigational." In reality, FDA's approval process holds drugs to rigorous safety and efficacy standards. In other instances, insurers are first demanding extraordinary measures such as biopsies, which take away critical muscle mass and require already vulnerable patients to undergo anesthesia in an inpatient hospital setting. Unfortunately, these coverage decisions mark a troubling sign of things to come. As precision medicine becomes the new normal, insurers will undoubtedly encounter many more high-cost, high-value treatments. Some will face an acceptable level of uncertainty at the time of approval. Most all will offer direct benefit, albeit for a … Continue reading →

KENNEDY TWP. -- A township teen and his family have been elated to learn that his health insurance provider will cover the cost the expensive drug that has likely slowed the progression of his Duchenne muscular dystrophy. Billy Ellsworth, 16, of Kennedy Township, had been on a clinical trial for eteplirsen -- now known by its commercial name exondys51 -- at the Children's Hospital of Pittsburgh of UPMC for several years. The drug was tentatively approved by the Food and Drug Administration in September, but that meant the cost of the drug -- around $300,000 a year -- would eventually be passed onto the family. Highmark approved the cost of the life-extending drug on Jan. 30 after the Ellwsorths were initially denied coverage twice last month. "These trial boys, and there were 12 of them, were kind of in a state of flux or a gray area because the trial is officially over, but they still needed research until our insurance went through," said Terri Ellsworth, Billy's mother. "Billy never went without drugs, and of course, no, we never had to pay a dime." According to the FDA, people with Duchenne progressively lose the ability to perform activities independently and … Continue reading →

The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. About half of people with muscular dystrophy have this variety. Although girls can be carriers and mildly affected, the disease typically affects boys. About one-third of boys with Duchenne muscular dystrophy don't have a family history of the disease, possibly because the gene involved may be subject to sudden abnormal change (spontaneous mutation). Signs and symptoms typically appear between the ages of 2 and 3, and may include: Signs and symptoms are similar to those of Duchenne muscular dystrophy, but typically are milder and progress more slowly. Symptoms generally begin in the teens but may not occur until the mid-20s or even later. Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms first begin. Examples include: Seek medical advice if you notice signs of muscle weakness such as increased clumsiness and falling in yourself or your child. . See the article here: Muscular dystrophy Symptoms - Mayo Clinic … Continue reading →

No treatment is currently available to stop or reverse any form of muscular dystrophy (MD). Instead, certain therapies and medications aim to treat the various problems that result from MD and improve the quality of life for patients. These include the following1: Beginning physical therapy early can help keep muscles flexible and strong. A combination of physical activity and stretching exercises may be recommended. Many people with MD do not realize they have little respiratory strength until they have difficulty coughing or an infection leads to pneumonia. Regular visits to a specialist early in the diagnosis of MD can help guide treatment before a respiratory problem occurs2. Eventually, many MD patients require assisted ventilation. MD patients who experience weakness in the facial and throat muscles may benefit from learning to slow the pace of their speech by pausing more between breaths3 and by using special communication equipment. As physical abilities change, occupational therapy can help patients with MD relearn these movements and abilities. Occupational therapy also teaches patients to use assistive devices such as wheelchairs and utensils. At various times and depending on the form of MD, many patients require surgery to treat the conditions that result from MD. People … Continue reading →

Limb-girdle muscular dystrophy (LGMD) or Erb's muscular dystrophy is a genetically and clinically heterogeneous group of rare muscular dystrophies. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD has an autosomal pattern of inheritance and currently has no known cure. It is similar to but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy. The term limb-girdle is used to describe these disorders because the muscles most severely affected are generally those of the hips and shouldersthe limb girdle muscles. Symptoms of limb-girdle muscular dystrophy vary widely, but most commonly are muscle weakness and atrophy, myoglobinuria, myotonia, elevated serum CK, and, in ~20% of cases, cardiomyopathy. The disease inevitably gets worse over time, although progression is more rapid in some patients than others. Eventually the disease can affect other muscles such as the ones located in the face. The disease commonly leads to dependence on a wheelchair within twenty to thirty years of symptom onset, but there is high inter-patient variability, with some patients maintaining mobility.[1] The muscle weakness is generally symmetric, proximal, and slowly progressive. In most cases, pain is not present with LGMD, and mental function is not affected. LGMD can begin … Continue reading →