Advancing Care With Exon 17 Skipping Therapy for Duchenne Muscular Dystrophy

Liubov Gushchina, MD, the principal Investigator at Nationwide Children's Hospital and assistant professor of pediatrics at the Ohio State University College of Medicine, and her team aim to create a developed approach that will allow them to treat up to 3.4% of all Duchenne muscular dystrophy (DMD) patients.

“DMD and Becker muscular dystrophy (BMD) are X-linked allelic disorders that represent the most common type of muscular dystrophy caused by mutations in the dystrophin gene affecting ~ 1 out of 3,600-5,200 males worldwide. Clinically, absence of dystrophin leads to severe progressive muscle weakness and wasting and premature death due to respiratory and cardiac complications,” shares Dr. Gushchina. Although significant advancements have been made in the development of gene therapies for DMD, there is still no cure capable of stopping or reversing the progression of this debilitating disease.

The team’s long-term goal is to develop a safe and effective exon skipping therapy for DMD patients carrying skip-amenable mutations that flank exon 17. To achieve this, they will perform a series of experiments on patient-derived cell lines and on a novel mouse model of DMD. “This research will provide proof-of-concept data to develop highly effective vectorized exon skipping therapies that could then be used to correct the wide range of DMD mutations,” she says.