A University of Utah medical professor has received a $600,000 Muscular Dystrophy Association grant to conduct a clinical trial aimed at understanding how congenital myotonic dystrophy develops over time.
The three-year grant will allow Dr. Nicholas Johnson, an assistant professor of neurology, pediatrics, and pathology, to study what scientists call the natural history of the disease, also known as congenital DM1.
Johnson is also involved in clinical trials on other neuromuscular disorders, including facioscapulohumeral muscular dystrophy, Charcot Marie Tooth disease, and spinal muscular atrophy. You’ll find more information about that at this link.
The HELP-CDM trial will consist of 60 children with congenital DM1 and 30 healthy volunteers, from newborns to 13-year-olds. They will placed in one of four study groups according to age.
Johnson hopes to identify stages in the disease’s development, which could help advance research and the development of treatments. He will look for changes in oral and muscle weakness, respiratory and gastrointestinal function, and heart rate control.
The Muscular Dystrophy Association “is excited to be able to support Dr. Johnson’s work to advance our understanding of how congenital DM1 progresses through childhood,” Lianna Orlando, the association’s scientific program officer, said in a press release.
“Determining effective endpoint measures that reliably change over the course of the disease, and could potentially be used to indicate whether interventions or treatments are having any beneficial effects, is an important next step towards being able to conduct clinical trials in this patient population,” she added.
The study will include strength, cognition, and quality of life measurements that could help identify mechanisms that underlie the progression of congenital DM1. Johnson will also be looking at differences in children’s and adults’ symptoms.
“Many of the symptoms experienced by children with DM1 are distinct from those experienced by adults with the disease,” he said. “With an improved understanding of these differences, there will be a lot of opportunities to identify new treatment targets.
“The long-term goal,” he added, “is to reduce the severity of symptoms for children with this disease.”
Muscular Dystrophy Association grants support research that can improve and accelerate the development of treatments for neuromuscular diseases, with the ultimate goal of finding a cure.