Patricia Inácio, PhD, science writer —

Scientists are using the CRISPR-Cas9 gene-editing technique to excise the defective sequence of the gene underlying Duchenne muscular dystrophy (DMD) and replace it with the correct sequence for restoring healthy gene function in these patients. “We want to use genetically corrected stem cells to replace the stem cell pool and…

Rapamycin administered to a mouse model of dystroglycanopathy, a particular form of muscular dystrophy, worked to reduce fibrosis and inflammation, researchers reported, while enhancing muscle strength. The study, “Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy,” was published in the journal Skeletal Muscle. Eystrophin-glycoprotein…

A retrospective analysis of the brain structure by MRI shows alterations in white matter in patients with myotonic dystrophy type 1 (DM1) disease. These findings suggest the brain is involved in DM1 in addition to the muscular and systemic symptoms already affecting these patients. The study, “MRI findings and cognitive…

Researchers have found that certain cognitive functions, specifically those requiring sequential processing of auditory and visual information, do not improve with age in patients with Duchenne muscular dystrophy (DMD). The study, “Profile of cognitive function in adults with duchenne muscular dystrophy,” was published in the journal Brain and…

Translarna (ataluren) is a promising drug for the treatment of Duchenne muscular dystrophy (DMD) and cystic fibrosis. A team of scientists at University of Massachusetts Medical School and the University of Alabama at Birmingham has provided additional knowledge into Translarna’s mechanism of action, advancing our understanding of how the drug works to…

Researchers have found that a specific protein, CD82, is a marker for muscle stem cells and its expression is reduced in muscular dystrophy patients, suggesting a potential role for this previously unknown protein in the disease. The study, “CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells…

An international team of researchers has reviewed the latest treatments targeting non-muscle cells in the heart responsible for cardiac scarring. The information is important for developing strategies to treat diseases that are often viewed as hopeless, from common ailments like advanced heart failure to rare but deadly ones like muscular dystrophy. The study from…

Catabasis Pharmaceuticals, in a joint initiative with Parent Project Muscular Dystrophy (PPMD), recently hosted the webinar “MoveDMD: A Clinical Trial of Edasalonexent (CAT-1004) in Boys with Duchenne Muscular Dystrophy.” The clinical-stage biopharma company, together with PPMD, a nonprofit organization founded in 1994 by parents of children with Duchenne and…

University of Chicago researchers developed a DNA nanosensor that measures the physiological concentration of chloride with a high degree of accuracy, a discovery with critical implications for diseases such as muscular dystrophies. Until now, there was no effective way to measure intracellular stores of chloride. The newly developed sensor, called…

Deflazacort, a glucocorticoid drug, was shown to improve muscle strength in boys with Duchenne muscular dystrophy (DMD) in a clinical trial performed by Marathon Pharmaceuticals. Trial results were reported in a presentation, “Effect of DEFLAZACORT and PREDNISONE versus placebo on muscle strength in boys with duchenne muscular dystrophy who have lost ambulation: results…