Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane.
Duchenne muscular dystrophy (DMD) is caused by a genetic mutation and affects one in every 5,000 boys born. Because the affected gene is on the X chromosome, girls are carriers of the mutant gene but develop the disease only very rarely (one in about 50 million).
Researchers at Johns Hopkins Medicine report that an experimental drug first developed to treat kidney disease prolongs survival and improves muscle function in mice genetically engineered to develop a severe form of Duchenne muscular dystrophy (DMD).
Researchers at UBC’s School of Biomedical Engineering have discovered that an existing cancer drug could have potential as a treatment for muscular dystrophy.
Researchers at the University of British Columbia's School of Biomedical Engineering have discovered that an existing cancer drug could have potential as a treatment for muscular dystrophy.
In proof-of-concept experiments, Johns Hopkins Medicine scientists say they have successfully cultivated human muscle stem cells capable of renewing themselves and repairing muscle tissue damage in mice, potentially advancing efforts to treat muscle injuries and muscle-wasting disorders in people.
In a new study, the group of Johan Auwerx at EPFL's School of Life Sciences has made the first connection between muscular dystrophy and sphingolipids, a group of bioactive lipids. The study is published in Science Advances.
An international team led by uOttawa Faculty of Medicine researchers have published findings that could contribute to future therapeutics for muscle degeneration due to old age, and diseases such as cancer and muscular dystrophy.
Many more adults with Duchenne muscular dystrophy (DMD) are living longer thanks to improvements in treatment, however international standards of care have not yet fully addressed the complex needs of these patients.
This first-in-human study of golodirsen showed its long-term safety and biologic activity in patients with Duchenne Muscular Dystrophy (DMD). The approved exon-skipping therapy is designed to enable the production of functional dystrophin proteins, as described in the peer-reviewed journal Nucleic Acid Therapeutics.
There is no consensus on when to introduce cardioprotective treatment in patients with Becker muscular dystrophy (BMD), and practice varies widely.
Genetic muscle diseases lead to progressive muscle wasting and often early death, with few treatment options and no cure.
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.
A first participant was dosed at I-Motion, the pediatric clinical trial platform for neuromuscular diseases located at Trousseau hospital in Paris, as part of the gene therapy trial in Duchenne muscular dystrophy (DMD) conducted by Genethon.
As the name implies, induced pluripotent stem cells can become any type of cell in our body, and scientists have evidence that when they prompt them to become muscle progenitor cells they can help restore the sometimes debilitating muscle loss that happens with age.
Today, the U.S. Food and Drug Administration granted approval for Amondys 45 (casimersen) injection for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping (Exons are pieces of DNA that provide information for making proteins in a person's genome).
A muscle fiber consists of just one cell, but many nuclei. A team at the MDC led by Professor Carmen Birchmeier has now shown just how varied these nuclei are.
Genethon, dedicated to designing and developing gene therapy products for rare diseases, received this Monday 30th of November the authorization from the ANSM, the French National Agency for Medicines and Health Products Safety, to start in France a multicentre international clinical trial for the treatment of Duchenne muscular dystrophy with product GNT 004.
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.
Clinical Trials on a Chip researchers plan to build and test common and rare disease models to help improve the clinical trial process.
A new drug offers hope for young boys with the progressive neuromuscular disease Duchenne muscular dystrophy (DMD) by potentially offering an alternative to high-dose glucocorticoids that have significant side effects.