Nicholas Johnson, assistant professor of neurology at the University of Utah in Salt Lake City, was awarded an MDA research grant totaling $375,000 over a period of three years to develop natural history data on congenital-onset type 1 myotonic muscular dystrophy (MMD1, also known as DM1).
Congenital MMD1 is a severe form of myotonic dystrophy that begins in infancy. Because it is a rare condition, there is not as much known about the usual course of the disease as there is for adult-onset forms of myotonic dystrophy. Johnson will be conducting a “natural history” study to collect information on the most critical symptoms and how those symptoms change over time. Specifically, he will assess quality of life, cognition, speech, muscle strength and gastrointestinal symptoms in children with congenital MMD1 every year over a three-year period.
“This will allow for appropriate symptoms to be targeted in future treatment trials, as well as determining the age of children who will benefit the most from future treatments,” Johnson says.
“Recent data from preclinical models suggest antisense oligonucleotide therapy [a strategy for removing the harmful accumulation of RNA that causes the disease] may prove to be a very effective therapeutic approach for type 1 myotonic dystrophy, and human clinical trials are anticipated shortly. If antisense oligonucleotide therapy appears safe, there will be great urgency to extend clinical trials to children with myotonic dystrophy, particularly those most severely impacted by the disease,” he says. Therefore, collecting natural history data now will allow future trials to proceed more quickly.
Funding for this MDA grant began August 1, 2013.