Researchers have achieved a remarkable advancement in gene therapy aimed at restoring the full-length dystrophin protein, potentially paving the way for novel treatments for individuals affected by Duchenne muscular dystrophy (DMD).
Researchers at the Indiana University School of Medicine have made a significant advancement in gene therapy that aims to restore the full-length dystrophin protein, which could lead to innovative treatments for those suffering from Duchenne muscular dystrophy (DMD).
A recent study featured in Nature Communications showcases how their cutting-edge gene therapy is effective in enhancing muscle tissue and boosting overall strength in mouse models afflicted with Duchenne muscular dystrophy.
Duchenne muscular dystrophy is a hereditary condition caused by mutations in the DMD gene, leading to a deficiency in dystrophin protein. This shortage results in the gradual deterioration of muscle strength and tissue. Those with this disease often face challenges with mobility, alongside heart and lung issues, ultimately resulting in a reduced life expectancy.
“Existing gene therapies for Duchenne muscular dystrophy use a shortened version of dystrophin,” explained Renzhi Han, PhD, the study’s senior author and a pediatrics professor at the IU School of Medicine. “Regrettably, this alternative does not sufficiently safeguard the muscles, as it misses several crucial functional elements found in the full-length dystrophin.”
Although the U.S. Food and Drug Administration has recently given the green light to a micro-dystrophin gene therapy for Duchenne muscular dystrophy, Han noted that the results have not met expectations.
Utilizing their expertise with adeno-associated virus methods to deliver large therapeutic genes, Han and his colleagues at the Herman B Wells Center for Pediatric Research devised a triple-adeno-associated virus vector system to convey a complete version of the dystrophin protein to the muscles.
“We refined and assessed our new three-vector system to ensure it effectively produced and assembled the full-length dystrophin protein,” Han stated. “Our findings confirmed that we successfully reinstated full-length dystrophin in both skeletal and heart muscles of mice with DMD, leading to notable enhancements in their muscle health, strength, and functionality.”
Han has submitted a provisional patent application for this triple-adeno-associated virus vector system and is working with the IU Innovation and Commercialization Office to move the treatment towards market readiness. He is also looking for additional funding to ensure that patients with Duchenne muscular dystrophy can access these promising new treatment options.
“I am confident that this innovative gene therapy approach presents significant benefits for patients compared to what is currently available, and I am eager to advance it into further clinical development,” he remarked.
Other contributors to the study at the IU School of Medicine include Yuan Zhou, Chen Zhang, Weidong Xiao, and Roland W. Herzog.
