News

The study of rare diseases is typically short-changed with research funding, and the creation and sharing of tools to fight these disorders is the mission of a new initiative launched at the University of North Carolina at Chapel Hill. The UNC Catalyst for Rare Diseases project, funded…

Researchers found notable differences in the access to appropriate care for Duchenne’s muscular dystrophy (DMD) patients in seven European countries. In a survey known as CARE-NMD, patients in DMD registries in the countries —  Bulgaria, the Czech Republic, Denmark, Germany, Hungary, Poland and the United Kingdom — were questioned as to care…

Children with special healthcare needs, such as those with muscular dystrophy (MD), benefit from at-home care, but at high costs to their families. In fact, uncompensated medical care in the U.S. costs theses families up to $36 billion annually, a new comprehensive national study reported. The study, published in…

A European Medicines Agency (EMA) committee is beginning a review of  Sarepta Therapeutics‘ request for conditional approval of eteplirsen as a treatment for Duchenne muscular dystrophy (DMD) patients with a confirmed mutation of the dystrophin gene that can be overcome by exon 51 skipping. The Committee for Human Medicinal Products (CHMP) validated a Marketing Authorization application (MAA)…

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…

CureDuchenne Ventures is investing in Therapeutic Research in Neuromuscular Disorders Solutions (TRiNDS), a new specialized contract research organization. TRiNDS is hived off from the Cooperative International Neuromuscular Research Group (CINRG), an academic consortium that studies causes, pathogenesis and clinical outcomes of neuromuscular disorders, and conducts well-controlled clinical studies…

Dietary quercetin, an antioxidant belonging to group of plant pigments that gives many fruits and vegetables their color may partially protect muscles in Duchenne muscular dystrophy (MD), according to a study conducted on a mouse model of the disease and published in the scientific journal Plos One.

Patients with Duchenne muscular dystrophy and Becker muscular dystrophy treated with ACE inhibitors inhibitors (drugs that dilate blood vessels) had slower progression of myocardial fibrosis than those treated with usual care. The study with the findings, “Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial,” is…

Becker muscular dystrophy (BMD) was eventually diagnosed in a boy with epilepsy and dysgnosia (delayed cognitive development), but relatively age-normal running and walkingabilities, researchers report in what they called a rare case study. Later genetic testing revealed a duplicate mutation within the dystrophin gene, responsible for making a protein important…

Scientists have developed two new approaches to kill RNA molecules responsible for incurable diseases such as muscular dystrophy (MD),  according to a study. One is designing small molecules that destroy only disease-causing RNA. The other approach is using a disease-causing RNA as a catalyst to create a therapy that kills…