Category Archives: Muscular Dystrophy Treatment

The sequencing of the canine genome along with next generation sequencing technologies like whole exome sequencing have facilitated quicker, easier and more efficient identification of genes and mutations that can cause diseases in dogs. In a study published in Skeletal Muscle researchers have used these technologies to study a form of Limb-girdle muscular dystrophy (muscle wasting and weakness in shoulder and hip muscles) in Boston terriers. Here to tell us about the research and what this means for the breed is lead author of the study Melissa L. Cox. Melissa L. Cox 5 Sep 2017 Dogs live with humans, and have access to medical care nearly as sophisticated as ours. We are also close in other ways: sharing approximately 85% of our genome that is our complete sets of genes any naturally occurring gene mutation that may cause a disease in dogs is likely to cause a similar condition in humans, and vice versa. Dogs can serve as models of human disease; for example, treatments such as gene therapy can be tried in dogs before going into clinical trials in humans, which can benefit both species. The sequencing of the canine genome greatly increased the speed and efficiency with which … Continue reading →

OXFORD, United Kingdom, Sept. 05, 2017 (GLOBE NEWSWIRE) -- Summit Therapeutics plc (NASDAQ:SMMT) (AIM:SUMM), the drug discovery and development company advancing therapies for Duchenne muscular dystrophy and Clostridium difficile infection (CDI), today announces positive top-line data from an exploratory Phase 2 clinical trial that support ridinilazole as a highly selective and potent antibiotic product candidate for the treatment of CDI. In the Phase 2 clinical trial, ridinilazole preserved the gut microbiome of CDI patients to a greater extent than the marketed narrow-spectrum antibiotic, fidaxomicin. During the trials ten-day treatment period, ridinilazole treatment had markedly less impact on the gut microbiome of trial patients by measures of overall diversity and changes in key bacterial families, when compared to those trial patients dosed with fidaxomicin. In the trial, ridinilazole and fidaxomicin both reduced the abundance of C. difficile. However, fidaxomicin-treated patients had reduced abundancy of other bacterial families associated with microbiome health. For a number of these bacterial families, the difference between the two treatments was statistically significant. Another measure of microbiome health is alpha diversity as measured by the Simpsons Diversity Index. There was a greater reduction in alpha-diversity during fidaxomicin treatment compared with ridinilazole-treated patients. These measures were a key … Continue reading →

When Charley Seckler was 3 years old, everyone seemed to notice his big, strong calves. People always said, Charley, youre gonna be a soccer player, his mom, Tracy Seckler, tells PEOPLE. But when Charleys pediatrician said he might have muscular dystrophy, Tracy began to connect the dots. The concerned mother went online and saw videos of other kids who had her sons same big calves, and they were all using their hands to push themselves off the floor just like her son did. She knew instantly that Charley hadDuchenne muscular dystrophy (DMD). Duchenne is a rare, progressive, degenerative disease affecting about 1 in 3,500 boys, according to the Muscular Dystrophy Association (MDA). Children with the condition are born without the protein, dystrophin, which results in muscle degeneration. Eventually, they cant walk, feed themselves or breathe on their own. One of the symptoms is enlarged calf muscles because the muscle tissue is abnormal and may contain scar tissue, according to the MDA. Until recently, boys with DMD usually didnt survive beyond their teen years. Life expectancy is increasing and survival into the early 30s is becoming more common. Tracy and Charley SecklerCourtesy Tracy SecklerAt the time Charley was diagnosed, Tracy who … Continue reading →

The chemical structure of a drug can make the entire difference between a success and a failure in drug development. Of two drugs that used the same approach to treat Duchenne muscular dystrophy Exondys 51 (eteplirsen) and Kyndrisa (drisapersen) only one became approved. Researchers from The Ohio State Universityin Columbus now explain how and why the fate of the two seemingly similar drugs separated, in a review published in the journal Expert Opinion on Orphan Drugs. The review was titled Clinical trials of exon skipping in Duchenne muscular dystrophy. Sarepta Therapeutics approved Duchene treatment Exondys 51 is commonly referred to as exon skipping 51 therapy. It aims to correct the underlying genetic flaw in the dystrophin gene, causing Duchenne MD. While researchers know that people can have numerous different mutations that cause the disease, those affecting exon 51 are considered the largest group, present in about 13 percent of patients. A gene in this case that encodes for dystrophin is made up of regions that code for the protein, called exons, as well as noncoding sequences. What has been particularly difficult when developing gene therapies for Duchenne is the extremely large size of the dystrophin gene. With its 79 exons … Continue reading →

GENEVA In what has become a Labor Day weekend tradition, Geneva firefighters will again take part in the annual Fill the Boot campaign to support the Muscular Dystrophy Association (MDA). The Geneva firefighters, representing Local #2859 of the International Association of Firefighters, will collect money in boots to help children and adults with muscular dystrophy, amyotrophic lateral sclerosis (ALS, also known as Lou Gehrigs disease) and related muscle-debilitating diseases live longer and grow stronger. MDA officials said this years Labor Day weekend and Fill the Boot campaign has special meaning, as MDA is mourning the recent passing of longtime national chairman Jerry Lewis, a stalwart of Labor Day weekend MDA telethons. Continuing a more than 60-year tradition, Geneva firefighters will hit the streets with boots in hand, asking motorists, pedestrians and other passersby to donate to MDA. They will be on the corner of North and Exchange streets starting at 10 a.m. Friday. We are thrilled to be working with the Geneva Firefighters IAFF Local #2859 for a Fill the Boot this year to help provide the funds needed to find treatments and cures for muscular dystrophy, ALS and related diseases that severely limit strength and mobility, said Maggie Thomas, … Continue reading →

Appeal for help: Thomas with wife Catherine Vagappan and James at the hospital. IPOH: The family of a teen suffering from a genetic disorder which causes progressive muscle degeneration and weakness is appealing to the public to help fund his treatment. James Edmund Thomas, 17, who suffers from Duchenne Muscular Dystrophy, has been bedridden in a hospital here for a month after suffering from pneumonia and pulmonary oedema (accumulation of fluid in the lungs) on July 23. James was in intensive care and required a tracheostomy (an opening through the neck) to help him breathe. The medical cost for his treatment was RM130,000. His father Thomas Arokiasamy, 50, has only paid RM80,000 from his savings and with the help of friends. The technician, who is the familys sole breadwinner, said he had no choice but to seek funds from well-wishers. Thomas said his son, who was in a coma at one point, was slowly recovering but could only be discharged if there was a ventilator and other medical equipment at home. He also needs someone to monitor and manage his daily needs. This long-term treatment for James would cost the family between RM65,000 to RM70,000. Although James had been suffering … Continue reading →

Endurance, strength, enthusiasm, persistence those are some of the key themes of the retro-styled Women of the Lynchburg Fire Department calendar that will bring some Lynchburg firefighting flair to peoples walls in 2018 and 2019. Abbey Johnston, a captain whos been with the Lynchburg Fire Department for 13 years, said the 18-month calendar hits a number of highlights for the department. For one, she said its the first time the department has had enough women to feature in a calendar all 14 who were employed at the time of the photo shoots are included in the calendar. Two more have joined the department since. Not everyone was all in for the calendar at first, though. Johnston said some firefighters or their families had reservations about the proposed pin-up nature of the photos. But, as Johnston assured them, the pictures would be fashionable and feminine, yet classy, with a retro, 1950s feel. We wanted it to be respectful, she said. We wanted it to focus on strength, the different strengths that it takes to do the job, and to be honorable to all of our members: retired and current, male and female. Other women featured in the calendar include administrative personnel … Continue reading →

Not everyone found Jerry Lewis funny. Some even found him offensive. But no one can deny the impact he had oncomedy and film over a career that stretched from his early childhood almost until his death Sunday at 91. For 45 years,Lewis played another role many people remember at least as well ashis long list oflight comedies and occasional dramatic parts. Lewis' annual Muscular Dystrophy Associationtelethons weremarathon broadcasts that usually began on Labor Day weekendand ranas long as 211/2 hours. And, like his comedy, the shows were not to everyone's tastes. Some contended that his broadcast and similar fundraisers exploited young disease sufferers. But Lewis' affection for the young people he called Jerry's kids was genuine, and many, many people were moved to donate: Over the years, Lewis raised more than $2billion for research into treatment for muscular dystrophy and related diseases. We are deeply saddened by the death of humanitarian and MDA Telethon star and national chairman, Jerry Lewis, Northern Indiana MDA Executive Director Sonja Cronin said in an email Monday. MDA would not be the organization it is today if it were not for Jerry's tireless efforts on behalf of 'his kids.' His enthusiasm for finding cures for … Continue reading →

GODFREY Firefighters of the Godfrey Fire Protection District and Shivers Frozen Custard are partnering to fight muscular dystrophy through a fill-the-boot event on Saturday, Aug. 26. Muscular dystrophy, amyotrophic lateral sclerosis, and other related life-threatening diseases take away peoples ability to walk, move, smile, talk and even breathe. Godfrey firefighter and MDA coordinator Chris Dennison reached out to Shivers Frozen Custard owner Brian Morris about the possibility of a joint event to raise awareness and funds for the Muscular Dystrophy Association. Mr. Morris was very supportive of the idea and we look forward to working with Shivers to help fight muscular dystrophy, Dennison said. The fire district is encouraging residents to stop by Shivers, 3318 Godfrey Road, from 6-9 p.m. Saturday, Aug. 26. Firefighters will be collecting for MDA, all children will receive a free toy fire truck, and a real GFPD firetruck will be on display. Funds raised through the 2017 Godfrey Fire Fill the Boot event will be used to build on decades of research progress, helping push science to its limits in the search for treatments and cures. Over the years, Godfrey firefighters have raised tens of thousands of dollars for the Muscular Dystrophy Association with the … Continue reading →

In 1965, a coach for the University of Florida football team the Gators noticed that his players were being affected by heat-related illnesses. The coach then asked a team of physicians to determine the exact cause for his players falling ill. The physicians discovered that the team was losing more fluids than they could replenish. Thats when Gatorade was invented. Why is Gatorade better than water? Gatorade contains electrolytes. Electrolytes are chemicals such as sodium, magnesium, calcium, potassium and other key nutrients that aid in the function and overall health of our cells. They help improve hydration by directing water to the parts of the body where its needed and by maintaining fluid balance inside the cells. Electrolytes get their name from the act of sending electrical charges to muscles to help them move and contract. (This is true of Gatorade and other brands similar to it.) Ive been criticized for drinking Gatorade. They say it has too much salt and sodium for someone who isnt active. But for a person like me, whose muscles and cells dont function properly, the electrolytes in Gatorade help keep my heart rate steady and my body hydrated. I do, however, drink the G2 … Continue reading →