New therapies are making significant changes in the care for childhood muscular dystrophies by slowing the progression of these diseases. Many of these developments are most beneficial when they are started early in a child’s life, often before symptoms become apparent.
Following the recent approval of gene therapies for Duchenne muscular dystrophy (DMD), several states including New York, Minnesota, and Ohio, have added DMD to their newborn screening panels. This inclusion presents a distinct opportunity for researchers to investigate earlier diagnosis and intervention methods.
Dr. Lee highlighted the importance of this research, stating, “While outcome measures and progression rates for children over age four are well understood, there remains a major gap in trial readiness and evidence-based care for younger boys and infants.” He emphasized that the project aims to advance understanding of early DMD progression, create infrastructure for clinical trials, and contribute to newborn screening expansion and clinical care guidelines across the country.
A case in point is Kohen Ottenschot, a five-year-old who received gene therapy treatment for DMD at Golisano Children’s Hospital. He was among the first in New York State to receive this treatment following FDA approval. Kohen was supported by a team of medical staff, including Joan Mountain, RN, and Sam Mackenzie, MD, PhD, among others.
URMC neuromuscular researchers have focused on DMD for over 50 years. In 1991, Robert Griggs, MD, and Richard Moxley, MD, were instrumental in establishing prednisone as an effective treatment for DMD. Later in 2016, the effectiveness of another steroid, deflazacort, was proven by URMC researchers. This steroid was subsequently approved by the US Food and Drug Administration (FDA). In 2022, Griggs led another international study demonstrating the safety and efficacy of a daily steroid regimen.
