A single gene therapy that silences the mutation responsible for oculopharyngeal muscular dystrophy (OPMD) and replaces the mutated gene with a normal one may advance into human studies in the second half of 2018. Benitec Biopharma started its OPMD program in 2014 and now announced their clinical candidate BB-301 as a one-step gene therapy approach. OPMD patients develop muscle weakness in the upper eyelids and throat in adulthood, typically after age 40. OMPD is a rare genetic disease caused by a mutation of the poly(A)-binding protein nuclear 1 (PABPN1) gene. Because it affects fewer than 200,000 people nationwide, OMPD is considered an orphan disease that benefits from encouraging programs for drugs targeting these rare diseases. In collaboration with research groups in London and Paris, Benitec tested a genetic approach known as DNA-directed RNA interference (ddRNAi) to shut down and replace the mutant PABPN1 gene using two different viral vectors. In this pre-clinical study, researchers found that the two-vector system restored muscular function in A17 mouse model, which displays many OPMD clinical signs including fibrosis and loss of muscle strength. Now, Benitec combined silence and replace gene functions into a single vector (a carrier system) ina new clinical candidate, BB-301. Using … Continue reading →

This year, collecting donations to go toward research for treating muscular dystrophy during the Lynchburg Fire Departments Fill the Boot campaign has a different meaning for David Cox. Cox had worked for the department for more than 15 years but retired at the beginning of August after he was diagnosed with Myasthenia Gravis, a neuromuscular disease, at the end of May. Like other muscular dystrophy-related diseases, Myasthenia Gravis weakens muscles as an autoimmune disease that damages connections between nerves and muscles, according to the Muscular Dystrophy Association. Hed participated in the departments fundraisers for the Muscular Dystrophy Association for years and decided to come back post-retirement to help out again this year. It really does mean more now, you know, he said. Out here today, my legs were shaking this morning I was like, I dont know if Im going to do it, but I said, Why not? Its for a good cause. I can suck it up for three or four hours and just do it. Some days, Cox said he can only take a few steps before becoming exhausted and needing to rest 10 to 15 minutes, whereas he was able to exercise normally before starting to get … Continue reading →

For more than four months, Bethlehem blogger Shane Burcaw waited anxiously for a call about his future. Whenever my phone rings with the hospitals number, my body goes into complete panic nervous sweats, rapid heart rate as I prepare for what could either be the best or worst news of my entire life. Burcaw wrote on his blog, Laughing at my Nightmare. Spinal muscular atrophy has kept him in a wheelchair since he was 2 years old, preventing him from keeping his muscles. On the blog, Burcaw, 25, shares amusing observations, happy moments and painful experiences with half a million followers. That has led to book deals, speaking engagements and a nonprofit organization that helps people with muscle diseases buy equipment. In late June, the call Burcaw was waiting for came. He found out his insurance will cover the first drug approved by the government to treat his disease. Spinraza, which costs $750,000 the first year, and $375,000 every year after that. His first drug injection, which he received a couple of weeks ago, is expected to help him maintain, and maybe even gain, strength. He said his second would occur around Labor Day, a holiday many associate with efforts … Continue reading →

DUBLIN--(BUSINESS WIRE)--The "Europe Limb-Girdle Muscular Dystrophy Market and Competitive Landscape - 2017" report has been added to Research and Markets' offering. The latest research, Europe Limb-Girdle Muscular Dystrophy Market and Competitive Landscape - 2017, provides comprehensive insights into Limb-Girdle Muscular Dystrophy pipeline, epidemiology, market valuations, product sales, market forecast, product forecasts, and market shares. This study accurately estimates and forecast Limb-Girdle Muscular Dystrophy market size and drug sales. This research also provides insights into Limb-Girdle Muscular Dystrophy epidemiology and late stage pipeline. The report is classified into nine sections - Limb-Girdle Muscular Dystrophy overview with definitions, symptoms, etiology, diagnosis, treatment options; Limb-Girdle Muscular Dystrophy pipeline insights covering late stage clinical trials pipeline; Limb-Girdle Muscular Dystrophy prevalence trends by countries; Limb-Girdle Muscular Dystrophy market size and forecast by countries, market events, trends; product sales and forecast by countries; market shares by countries. The research scope includes EU5 countries - Germany, France, Italy, Spain, UK, Europe. Key Topics Covered: 1. Limb-Girdle Muscular Dystrophy: Disease Overview 2. Limb-Girdle Muscular Dystrophy Pipeline Insights 3. Limb-Girdle Muscular Dystrophy Epidemiology Analysis 4. Germany Limb-Girdle Muscular Dystrophy Market Insights 5. France Limb-Girdle Muscular Dystrophy Market Insights 6. Italy Limb-Girdle Muscular Dystrophy Market Insights 7. Spain Limb-Girdle Muscular … Continue reading →

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 →