MDA Awards Human Clinical Trial Grant for Myotonic Dystrophy Natural History Study

congenital DM1

MDA has awarded a human clinical trial grant to Nicholas Johnson, M.D., assistant professor of neurology, pediatrics and pathology at the University of Utah in Salt Lake City, to conduct a natural history study in congenital myotonic dystrophy (congenital DM1).

The award, which totals $598,348 over three years, reflects MDA’s commitment to support research that can improve and accelerate the development of future clinical trials, with the ultimate goal being the development of treatments and cures for all the diseases in its program.

Characterizing DM1 in children

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 of strength, cognition and quality of life, measured over the course of years, in children with congenital DM1 in order to determine how the disease progresses over time and why 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.

“MDA is excited to be able to support Dr. Johnson’s work to advance our understanding of how congenital DM1 progresses through childhood,” said MDA Scientific Program Officer Lianna Orlando, Ph.D. “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.”

Moving toward therapy development

Making it possible for kids to participate in clinical trials is a necessary step in finding effective therapies for congenital DM1.

“Many of the symptoms experienced by children with DM1 are distinct from those experienced by adults with the disease,” Johnson explained. “With an improved understanding of these differences, there will be a lot of opportunities to identify new treatment targets.

“The long-term goal,” he noted, “is to reduce the severity of symptoms for children with this disease.”

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

An opportunity to participate

The natural history study in congenital DM1 currently is recruiting participants. If you or someone you know may be interested in taking part, you can read more about the study — including eligibility criteria and contact information — by visiting and entering NCT03059264 into the search box.