DALLAS – April 30, 2021 – UT Southwestern scientists successfully employed a new type of gene therapy to treat mice with Duchenne muscular dystrophy (DMD), uniquely utilizing CRISPR-Cas9-based tools to restore a large section of the dystrophin protein that is missing in many DMD patients. The approach, described online today in the journal Science Advances, could lead to a treatment for DMD and inform the treatment of other inherited diseases.
DALLAS – Dec. 21, 2020 – A UT Southwestern research team has catalogued gene activity in the skeletal muscle of mice, comparing healthy animals to those carrying a genetic mutation that causes Duchene muscular dystrophy (DMD) in humans. The findings, published online recently in PNAS, could lead to new treatments for this devastating degenerative disease and insights into factors that affect muscle development.
DALLAS – Nov. 4, 2020 – A mutation in the gene that causes cystic fibrosis may accelerate heart function decline in those with Duchenne muscular dystrophy (DMD), a new study by UT Southwestern researchers suggests. The findings, published online recently in the Journal of the American Heart Association, could help doctors develop new strategies to preserve heart function in this population, potentially extending patients’ lives.
Announcement of the 2021 Harrington UK Rare Disease Scholar Award recipients, their organizations and fields of research:
Pietro Fratta, MD, PhD – University College London
Gene Therapy for Kennedy’s Disease, a rare neuromuscular disease
Angela Russell, DPhil – University of Oxford
New Drugs for the Treatment of Duchenne Muscular Dystrophy
Helen Waller-Evans, DPhil – Cardiff University
Novel Inhibitors to Treat Multiple Lysomal Storage Disorders, causes of widespread organ damage
Wyatt Yue, PhD – University of Oxford
Inhibitors of Primary Hyperoxaluria, a cause of kidney failure
Haiyan Zhou, MD, PhD – University College London
Novel Therapy for SPTLC1-Related Hereditary Sensory Neuropathy, a cause of shooting pain
Scientists at Sanford Burnham Prebys, Fondazione Santa Lucia IRCCS, and Università Cattolica del Sacro Cuore in Rome have shown that pharmacological (drug) correction of the content of extracellular vesicles released within dystrophic muscles can restore their ability to regenerate muscle and prevent muscle scarring. The study, published in EMBO Reports, reveals a promising new therapeutic approach for Duchenne muscular dystrophy (DMD), an incurable muscle-wasting condition.
Encouraging First Report of Systemic Delivery of Micro-dystrophin Gene Therapy in Children with Duchenne Muscular Dystrophy
Researchers from Nationwide Children’s Hospital have published in JAMA Neurology results from the first four patients treated in the first clinical trial of systemic delivery of micro-dystrophin gene therapy in children with Duchenne muscular dystrophy (DMD) – and initial findings suggest that the therapy can provide functional improvement that is greater than that observed under the standard of care.
Article title: Isoform-specific Na,K-ATPase and membrane cholesterol remodeling in motor endplates in distinct mouse models…
Testing of small molecules in mouse models of Duchenne muscular dystrophy shows promise for restoration of muscle structure and function.
Testing for Duchenne muscular dystrophy can require specialized equipment, invasive procedures and high expense, but measuring changes in muscle function and identifying compensatory walking gait could lead to earlier detection. This week in Chaos, researchers present a relative coupling coefficient, which can be used to quantify the factors involved in the human gait and more accurately screen for the disorder. They measured movements of different parts of the body in test subjects, viewing the body as a kinematic chain.
A new clinical trial conducted at The Ohio State University Wexner Medical Center found a cost-effective generic medication works just as well as a more expensive drug in preserving cardiovascular function in boys with Duchenne muscular dystrophy (DMD).