Nicholas Johnson, assistant professor of neurology, pediatrics and pathology at the University of Utah in Salt Lake City, was awarded a human clinical trial grant totaling $598,348 over three years to conduct a natural history study in congenital myotonic dystrophy (congenital DM1). 

Congenital DM1 is the most severe form of myotonic dystrophy type 1, with onset of symptoms at birth that include weakness, breathing problems, feeding problems and clubfoot. During childhood, children often have intellectual impairment, fatigue, behavioral concerns and weakness. Currently, there are no available treatments.

Johnson will collect measurements in children with congenital DM1 of strength, cognition and quality of life, measured over the course of years, in order to determine how the disease progresses over time and how the symptoms of children with the disease differ from those of adults. The aim is to determine which of those measurements could best be used as meaningful clinical endpoints for future clinical trials in congenital DM1.

If successful, Johnson’s work could facilitate the initiation of clinical trials to test therapies for congenital DM1. 

An MDA clinical research network grant totaling $918,000 over three years will spur advances in myotonic dystrophy (DM) research. The investment, which provides continued support for the Myotonic Dystrophy Clinical Research Network, will support five medical centers that specialize in DM research and clinical care.

Established in 2013, and supported by funding from MDA and other patient advocacy groups, the National Institutes of Health (NIH) and pharmaceutical company Biogen, the Network’s goals are to gain a more detailed understanding of the DM disease process and to collect data needed for clinical trials in order to inform what outcome measures, biomarkers and endpoints will be most appropriate.

“Now, for the first time, scientists and drug developers are coming up with good ideas about how to attack myotonic dystrophy at its root cause,” said Charles Thornton, a professor of neurology at the University of Rochester, who leads the Network and serves as its overall director. “The hope is that one of these new treatments will have a powerful effect, or that several can be used together.”

The Network was started, Thornton noted, to pave the way for testing new treatments in people.

All of the researchers in the network have free and unrestricted access to data generated at all of the sites. In addition, and to further support advances in DM research, the Network is committed to making access to study results broadly available to both academic and industry researchers in the United States and around the world.

Funding for this MDA research grant began Jan. 1, 2016.