PTC Therapeutics has announced it will submit the results its Phase 3 ACT DMD clinical trial for review by Health Canada as part of the New Drug Submission (NDS) for Translarna (ataluren) for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD). DMD is a progressive disease that mostly affects male patients…
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Researchers at MDI Biological Laboratory in Maine have discovered new mechanisms in heart tissue regeneration. The findings, published in the journal Development, might lead the way to drugs that help the body build new muscle cells, a crucial step toward the treatment of muscular dystrophies. Assistant Professor Voot P. Yin, who led…
Congenica, a global leader in the development of genome-based diagnostic technologies, has taken on a new project: to help a woman named Jill Viles with a serious muscle-wasting disease linked to a muscle-bound phenotype by offering to sequence her and her family’s genome. Viles and her family are affected by…
Recent advances in gene-editing technologies allow for precise manipulation of the genome to achieve therapeutic effects. While challenges remain, genome editing is likely to one day transform the treatment of muscular dystrophies, according to a review, by scientists from Editas Medicine and Duke University, that highlights current advances…
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Eligible Duchenne MD Patients to Have Expanded Access to Marathon’s Investigational Drug Deflazacort
Northbrook, Illinois-based Marathon Pharmaceuticals, a biopharma that focuses on the development of medicines to treat rare diseases with no current treatment options, has announced it is expanding patient access to its investigational medication deflazacort through its ACCESS DMD program. The program will allow participating physicians to obtain and prescribe deflazacort, which is…
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Professor’s Muscular Dystrophy Research to Be Funded with Javits Neuroscience Investigator Award
Charles Thornton, M.D., the Saunders Family Distinguished Professor in Neuromuscular Research at the University of Rochester Medical Center’s (URMC) Center for Neural Development & Disease in Rochester, New York, has received a Javits Neuroscience Investigator Award from the National Institutes of Health’s National Institute of Neurological Disorders and…
Radiologic imaging of muscle tissue is increasingly being used as a tool to aid diagnosis of neuromuscular diseases. A review from the University of Padova, Italy, outlines the pros and cons of various radiological techniques in this context. The review, “Role of Radiologic Imaging in Genetic and Acquired Neuromuscular Disorders,“ appeared in the…
Researchers in Spain published a new report describing their search for myotonic dystrophy (DM1) biomarkers. Unfortunately, the search for miRNAs that could help identify the disease was not successful. The report, “Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers,“ appeared in the journal…
Numerous studies show that deflazacort substantially prolongs walking ability in boys with Duchenne muscular dystrophy (DMD), allowing them to lead a longer productive life. The drug also causes less weight gain than other similar medications, a factor scientists believe might be key to maintaining ambulation. Despite its worldwide popularity as…
The second annual Napa in Newport drew more than 420 guests in a sold-out event that raised more than $700,000 to help to find a cure for Duchenne muscular dystrophy. The money will go to CureDuchenne, a nonprofit dedicated to finding a cure for Duchenne. The event was chaired by Darioush and Shahpar…
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