Carrie Miceli, PhD, on the Potential of Needle Biopsy Findings to Improve DMD Gene Therapy

“I'd like to use this sort of molecular and cellular atlas to begin to define cellular issues that individuals might be having with gene therapy so we can understand which cellular processes might be limiting efficacy.”

The advent of gene therapy products for Duchenne muscular dystrophy (DMD), which currently include an FDA-approved therapy and a number of investigational therapies that remain in clinical or preclinical development, is rapidly transforming the landscape of care for the disease. Although, current-generation gene therapy products for DMD have room for improvement, and thus research that could lead to better gene therapy approaches is of great interest. One potential avenue for this is to gain a better understanding of the disease pathophysiology and how gene therapy impacts it.

Carrie Miceli, PhD, a professor of microbiology, immunology, and molecular genetics at University of California, Los Angeles (UCLA), presented research that involved single nucleus sequencing of needle biopsies from boys with DMD at the 2024 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, held March 3-6, in Orlando, Florida. In an interview with CGTLive®, she discussed the key findings of the research and their implications. She noted that needle biopsies taken from boys who had been treated with gene therapy for DMD showed differences at a cellular level compared to biopsies from untreated boys. Micelli also discussed the role of fibroblasts and T-cells in DMD, which appears similar to the role of these cell type in autoimmune disease. She noted that targeting a specific type of inflammatory fibroblast may be of interest for future therapies for DMD, either as a monotherapeutic approach or as a combination approach with gene therapy. She also emphasized that similarities between the role of these cells in autoimmune disease, long COVID-19, and DMD may someday allow for the carry over of therapies designed for autoimmune disease and COVID-19 to treat DMD.

Click here to view more coverage of the 2024 MDA Conference.