The effects of a debilitating illness such as muscular dystrophy are inevitable, especially when the disease is incurable, as is the case with Duchenne muscular dystrophy.
Some treatments can help to manage the condition, but this muscle-wasting disease wreaks havoc on the human body, leaving it weak and incapable of performing basic functions as the condition worsens. The possibility of stopping the effects has been explored, but being able to reverse the condition and restore strength to the muscles has always been deemed somewhat of an impossibility.
However, a new hope arises in the form of gene editing. In canine trials, muscular dystrophy was completely cured and reversed, allowing the dogs to go symptom-free for the entirety of the study.
In a report published in Nature Communications, a team of international researchers explored the possibility of gene therapy in dogs to reverse and ultimately cure Duchenne muscular dystrophy.
The group of scientists, including Geneticist Darren Griffin of the University of Kent, used just a single injection in their study, finding an extraordinary new gene therapy. This new type of therapy targets the dystrophin gene, injecting it with microdystrophin, a compressed version of the gene itself. The dystrophin gene is relatively large in size, and has thus not been used in treatment prior to this experiment. However, the compression allows much more use of the normal 2.3 million base pairs.
By using just one injection of microdystrophin in dogs diagnosed with Duchenne muscular dystrophy, the team saw a “significant restoration of muscle function with a stabilisation of clinical symptoms for more than two years after injection.” After receiving the injection, the dogs were kept under observation for up to two years. None of the canine subjects showed recurring symptoms.
“This is really a very exciting study indeed,” Griffin stated. “The disease has long been a target for gene therapy and it is only to be hoped that sufficient funds can be awarded for this research to reach its natural conclusion and go into full clinical trials.” He and the team agree that they are “paving the way for human trials,” and bringing new possibilities to a heretofore incurable condition.
Muscular dystrophy is a muscle-wasting disease that causes a person’s body to become weaker, losing muscle function as it progresses. Duchenne muscular dystrophy is especially severe, often rendering its victims unable to walk by the age of 12. It usually presents itself in the form of symptoms by the age of four. These symptoms can include slower cognitive development, difficulty walking and abnormally shallow breathing. The average lifespan of a young man diagnosed with Duchenne muscular dystrophy is 26 years old, and it is very rare that these patients make it to the age of 40.
The exciting developments made in this study provide hope to a previously hopeless medical situation, and as human trials commence, the team hopes to release a treatment that can finally put this disease to rest.