Stephan Züchner, MD, PhD, on Gene-Targeted Approaches to Neuromuscular Disease

“What genetic therapies now promise is, in some cases, true corrections: single point in time treatments—like a single injection—and then the gene is replaced and hopefully works for a very long time; maybe a lifetime. That is a whole different level of intervention. We are early in this, but if this could become more the norm, it would revolutionize how we think about disease [and] how we treat disease.”

In the past, neuromuscular diseases (NMDs), such as muscular dystrophy, were defined based on pathology. While there was some knowledge that different subtypes of NMDs existed, the breadth and genetic basis of subtypes was not clear.

Stephan Züchner, MD, PhD, a professor for human genetics and neurology at the University of Miami Miller School of Medicine, presented in a session entitled “Large-Scale Data Approaches to NMD Research” at the Muscular Dystrophy Association (MDA) Clinical & Scientific Conference, held in Dallas, Texas, March 19-22, 2023.

In an interview with CGTLive™’s sister publication, NeurologyLive™, Züchner spoke about the ongoing shift to a view of NMDs based on genetics, in which different genetic subtypes are viewed as essentially different diseases, from a molecular point of view. He noted that while treatments applicable to multiple genetic subtypes which affect the same or similar mechanisms may be possible in some cases, NMD experts are coming to the conclusion that future treatments may be more successful if they are individually directed at specific genetic subtypes. 

Züchner emphasized the potential benefits of gene therapy approaches over other types of treatments, pointing out the possibility of a single injection that maintains efficacy for a lifetime. Looking further ahead, he also discussed the future possibilities of large-scale population screening and offering gene therapies as preventative medicine for patients who carry disease-causing mutations but have not yet developed symptoms.

Read more coverage of the 2023 MDA Conference here.