“Gene Editing Restores Dystrophin Expression in a Canine Model of Duchenne Muscular Dystrophy”, 2018 (; similar):
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD harbors a mutation corresponding to a mutational “hotspot” in the human DMD gene.
We used adeno-associated viruses to deliver CRISPR gene editing components to 4 dogs and examined dystrophin protein expression 6 weeks after intramuscular delivery (n = 2) or 8 weeks after systemic delivery (n = 2).
After systemic delivery in skeletal muscle, dystrophin was restored to levels ranging from 3–90% of normal, depending on muscle type. In cardiac muscle, dystrophin levels in the dog receiving the highest dose reached 92% of normal. The treated dogs also showed improved muscle histology.
These large-animal data support the concept that, with further development, gene editing approaches may prove clinically useful for the treatment of DMD.