Deleting exon 51 in the DMD gene — which mimics exon 51 skipping therapies — reversed all signs of Duchenne muscular dystrophy (DMD) in a pig model lacking exon 52, a severe disease-causing mutation in people, a study reported. Pigs missing both exon 51 and 52 had normalized dystrophin…
Various factors influenced the results of the creatine kinase-MM (CK-MM) blood test used to screen infants for Duchenne muscular dystrophy (DMD), according to a large study. Factors that affected CK-MM levels included age at blood sample collection, gestational age, birth weight, sex, ethnicity, and seasonal temperature, data showed. Newborn…
In people with Becker muscular dystrophy (BMD), both an elevated creatine-to-creatinine ratio and lower myostatin muscle protein levels in the bloodstream are associated with worse motor performance, a study reported. These two potential biomarkers predicted current functional abilities when combined with age but not disease progression over four years. Both…
Levels of titin, a muscle protein, were found to be elevated in the urine of boys with Duchenne muscular dystrophy (DMD) — making it a potential, novel, non-invasive biomarker for the genetic disease, a study demonstrated. Using a standard DMD mouse model, a lack of dystrophin, the protein missing…
Microdystrophin gene therapy effectively maintained long-term heart function in a mouse model of severe Duchenne muscular dystrophy (DMD), a study has found. The treatment prevented scar formation and inflammation in heart tissue, and maintained normal heart function over 18 months. These findings support the ongoing clinical trials evaluating…
DYNE-251, an investigational therapy for Duchenne muscular dystrophy (DMD), has received orphan drug and rare pediatric disease designations from the U.S. Food and Drug Administration (FDA). Orphan drug status is meant to support the development of therapies for rare conditions affecting less than 200,000 people in the U.S. It…
The approved antiparasitic medicine pentamidine, loaded into biocompatible and biodegradable nanoparticles, successfully eased signs of myotonic dystrophy type 1 (DM1) in cell-based models, a study shows. The researchers noted that these findings show the potential of nanoparticles to deliver therapeutic agents to treat muscle cells in people with DM1…
Treatment with AOC 1001 eased myotonia, when muscles are unable to relax after a contraction, in adults with myotonic dystrophy type 1 (DM1), according to early data from the Phase 1/2 MARINA clinical trial. MARINA data also showed — in all treated participants — AOC 1001 was successfully delivered…
Vamorolone, an investigational therapy for Duchenne muscular dystrophy (DMD), maintained biomarkers of bone formation and turnover compared to prednisone, according to the now published details of the VISION-DMD study. Standard anti-inflammatory corticosteroids, such as prednisone, have been shown to stunt growth with long-term use. Vamorolone is a…
Children with myotonic dystrophy type 1 (DM1) showed a decline in cognitive function over two years, with frequent impairment in visuospatial skills and attention, a small study suggested. The data indicate cognitive, neuropsychological, emotional, and behavioral assessments should be administered to children with DM1 periodically during development, the researchers…
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