Thurman Wheeler, assistant professor in the department of neurology and Center for Neural Development & Disease at the University of Rochester, New York, was awarded an MDA research grant totaling $396,000 over three years to identify potential therapies aimed either at slowing down the progression of muscle degeneration or improving muscle health in type 1 myotonic muscular dystrophy (MMD1, or DM1).
The mechanism responsible for progressive muscle degeneration in MMD1 in humans is unknown.
Wheeler and colleagues have developed novel therapies that correct most aspects of myotonic dystrophy in mice with mild muscle degeneration. It’s unclear, however, whether the therapies will be as safe and effective in mice with advanced muscular dystrophy similar to MMD1 in humans.
Now the team is working with muscle cell cultures, muscle tissue and research mouse models of MMD1 to determine why progressive muscle degeneration occurs, and to identify therapeutic agents that slow progression of muscle degeneration or improve muscle pathology.
One of the therapeutic agents being tested by the team is antisense oligonucleotides (ASOs), administered by subcutaneous (under the skin) injection to mice with a disease resembling MMD1. The safety and efficacy of ASOs in mice with advanced muscle disease may help predict the safety and therapeutic response in people with MMD1 ahead of clinical trials.
Funding for this MDA grant began Aug. 1, 2012.