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.
New gene therapy restores dystrophin protein in patients with Duchenne muscular dystrophy
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.
Thousands of different mutations causing Duchenne have been identified, but they tend to cluster into certain parts of the dystrophin gene.
Eric Olson, Ph.D., Professor and Founding Chair, Molecular Biology, UT Southwestern
FDA Approves New Treatment For Rare Duchenne Muscular Dystrophy Mutation by Pooja Shete on March 1, 2021 at 12:22 AM
Casimersen (Amondys 45, Sarepta Therapeutics) injection.
The prevalence of DMD worldwide is about 1 in 3600 boys, girls can also be affected in rare cases. Symptoms of DMD appear around age 3 years but worsen steadily over time. Mutations in the DMD genes lead to decrease in dystrophin, which is a protein that strengthen muscle fibers and protect them from injury as muscles contract and relax.
The FDA said in a press release that this mutation of the DMD gene is amenable to exon 45 skipping and this is the first approval of a targeted treatment for patients with the mutation. In about 8 percent of patients, DMD gene mutation that is amenable to exon 45 skipping is present.