New Frontiers in Duchenne Research: How Endothelial Cells Could Unlock Better Treatments

Duchenne muscular dystrophy (DMD) affects one in 5,000 males, causing progressive muscle weakness that ultimately leads to premature death. While this genetic disease has historically been considered fatal, recent advances have brought new hope. Eight treatments have already received FDA approval, transforming what was once a pediatric-only condition into one where patients are now surviving into adulthood.

Sophie Rengarajan, MD, a clinical instructor at the University of California, Los Angeles and 2025 American Neuromuscular Foundation Mid-Career/Established Research Grant recipient, is investigating an overlooked part of this disease: endothelial cells. These cells line blood vessels and play a crucial role in muscle health by regulating repair and regeneration, controlling immune cell access to muscles, and influencing how well treatments work. Using muscle biopsies from over 200 patients and healthy volunteers, Dr. Rengarajan examines how DMD affects different cell types at the genetic level.

Her research is particularly timely as physicians now face new challenges such as determining how different treatments interact, which therapy works best for which patient, and what the long-term effects of these new treatments are. As both a treating physician and researcher with personal connections to DMD, Dr. Rengarajan is motivated by the potential to make incremental progress that could significantly improve patients' lives. Her ultimate goal is to find ways to halt disease progression entirely and promote muscle regeneration, offering hope for better outcomes in this devastating disease.