A new gene therapy developed by researchers at the University of Missouri School of Medicine has shown to protect mice from a life-threatening heart condition caused by muscular dystrophy. "This is a new therapeutic avenue," said Yi Lai, PhD, the leading author of the study and assistant research professor in the MU School of Medicine's Department of Molecular Microbiology and Immunology. "This is just a first step, but we hope this could lead to a treatment for people with this devastating heart condition, which is a leading cause of death for people with Duchenne muscular dystrophy." About one in 3,500 children, mostly boys, are born with Duchenne muscular dystrophy (DMD). They experience a progressive wasting away of muscles, starting in the legs and pelvis. Children with DMD have difficulty walking, and most need wheelchairs by age 12. As DMD depletes the skeletal muscles, it also causes the heart to decay. A weakened heart kills up to 40 percent of people with DMD, usually by their 20s or early 30s. DMD originates with mutations in a single gene. For more than two decades, researchers have explored using gene therapy, an experimental treatment, to replace the flawed gene with a healthy copy. … Continue reading →

21.08.2014 - (idw) Universitt Basel Advances in the treatment of muscular dystrophy: For the first time, a research team has succeeded in restoring a missing repair protein in skeletal muscle of patients with muscular dystrophy. Researchers from the University and the University Hospital of Basel, Department of Biomedicine and Clinic of Neurology, report their recent findings in the scientific journal Science Translational Medicine. When muscle cell membranes are damaged, the repair protein dysferlin is activated and reseals muscle membrane tears. If this repair protein is altered due to a genetic mutation, the body's own quality control system (the so called proteasome) identifies the protein as being defective and eliminates it. Without dysferlin, injured muscle cell membranes cannot be repaired, which leads to progressive loss of skeletal muscle cells and thus to muscle wasting. It appears that the body's own quality control system neutralizes mutated dysferlin even if the mutation does not actually impair its repair function. Repair protein reactivated The research group led by Professor Michael Sinnreich at the Departments of Neurology and Biomedicine at the University and the University Hospital of Basel had previously demonstrated that proteasome inhibitors can reactivate mutated dysferlin proteins in cultured muscle cells from muscular … Continue reading →

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Sarepta Therapeutics, Inc., a developer of innovative RNA-based therapeutics, and Flagship Biosciences LLC, a leading tissue-based companion diagnostics firm, today announced a multi-year, multi-product partnership for the development of automated quantitative endpoint measurements in muscular dystrophy to support the advancement of Sareptas Duchenne muscular dystrophy (DMD) drug pipeline, including its lead candidate, eteplirsen. DMD is caused by the absence of functional dystrophin in affected patients muscle tissue. Dystrophin protein level is a fundamental biomarker used to assess therapies that aim to produce and restore the expression of dystrophin, such as exon-skipping therapies like eteplirsen. In order to optimally and efficiently evaluate therapeutic efficacy in patients, the next generation of protocols are being developed to digitally automate and standardize dystrophin measurement in tissue biopsies to speed the process while ensuring consistency. The establishment of these new standardized methods for automated quantitation is being enabled though the proprietary image analysis platform and digital pathology capabilities developed by Flagship. This newly established collaboration with Flagship demonstrates Sareptas commitment to enhancing the objective measurement of dystrophin in tissue samples for its growing pipeline of RNA-based therapeutics to treat DMD. The agreement between the companies also further strengthens Flagship Biosciences leadership role in … Continue reading →