Their solution involves using gene therapy to restore muscle strength and stabilize clinical symptoms. This is achieved by way of a shortened version of the dystrophin gene, containing just 4,000 base pairs, which is combined with a viral vector and injected into patients.
“Duchenne muscular dystrophy is a debilitating muscle-wasting disease affecting young boys and male animals, which is caused by inheritance of a damaged gene,” George Dickson, professor of molecular cell biology at University of London, told Digital Trends. “There is currently no very effective cure. Our work has involved producing a healthy functioning copy of the damaged gene in the lab, and then using a harmless virus to carry the gene into the affected muscles, a so-called gene therapy.”
The gene treatment has so far been tested on twelve golden retrievers affected by Duchenne muscular dystrophy. After a single dose, the dogs’ dystrophin production — the protein responsible for maintaining the integrity and strength of muscles — returned to its normal levels. Best of all, the trial was carried out a few years back, and all signs point to this being a lasting treatment. A paper describing the work was recently published in the journal Nature Communications.
“We now have treated a number of dogs affected by this condition with a single round of gene therapy,” Dickson continued. “At the correct dose, the results have been very encouraging with dogs looking very active and healthy over 3 years after the treatment. The treatment involves a simple intravenous infusion, a one-off treatment, and we have been very pleased and quite surprised at how effective the gene therapy has been given that muscle is a major tissue spread all over the body.”
Next up, the researchers hope to extrapolate the findings to human children, since they they are roughly the same weight and display similar clinical symptoms to canines.
“The goal is to expand this gene therapy treatment into human patients, boys suffering from the Duchenne muscular dystrophy disease,” Dickson said. “We have to scale up production of the gene therapy medicine for human use, complete more safety tests, and then embark on recruiting patients into full-scale clinical trials.”
Should all go according to plan, it’ll be another reminder of why gene therapy is the future of medicine as we know it.
