Researchers have used for the first time CRISPR to stop the progression of Duchenne muscular dystrophy (DMD) on a mammal.
Successful trials on large mammals, like dogs, could mean this study is the first step to giving hope to thousands of children that suffer from DMD.
Researchers at the UT Southwestern’s Hamon Center for Regenerative Science and Medicine used gene editing to restore dystrophin in muscle at 92% of its normal levels.
DMD literature shows that reaching a 15% threshold of dystrophin is enough to help patients.
The disease is a genetic defect that leads to muscular weakness, making daily tasks difficult because of a decrease in mobility. People affected by DMD are between ages 5 – 24. Sometimes the disease develops earlier, which makes it life-threatening, stated the Director of UT Southwestern’s Hamon Center for Regenerative Science and Medicine, Dr. Eric Olson:
“Children with DMD often die either because their heart loses the strength to pump, or their diaphragm becomes too weak to breathe. This encouraging level of dystrophin expression would hopefully prevent that from happening.”
DMD also leads to heart failure in young people, the average age of death being in the early 30s.
A New Way To Tackle DMD
The team of researchers published their study in the journal Science, showing that editing dystrophic muscle could be a better approach and that it’s ready for clinical trials.
Their research was done on dogs that share the same genetic mutations found in patients with DMD. Researchers delivered genetically modified components to reach the dystrophin gene by using a harmless virus (adeno-associated virus).
All four dogs used for the tests had the missing protein restored within weeks. The dog’s diaphragms and had 58% correction and 92% correction of the heart
The lead author of the study, Dr. Leonela Amoasii, who is also an Assistant Instructor of Molecular Biology in Dr. Olson’s lab, explains their approach:
“Our strategy is different from other therapeutic approaches for DMD because it edits the mutation that causes the disease and restores normal expression of the repaired dystrophin,” also adding that they “have more to do before we can use this clinically.”
Before testing the method on humans, researchers must find if the dystrophin levels will remain stable in time and if gene editing doesn’t come with adverse side effects.
Clinical trials of the new gene therapy should be ready in the next few years if everything goes according to plan, concluded Dr. Olson.
Doris’s passion for writing started to take shape in college where she was editor-in-chief of the college newspaper. Even though she ended up working in IT for more than 7 years, she’s now back to what he always enjoyed doing. With a true passion for technology, Doris mostly covers tech-related topics.