$1.6 million to develop gene therapy strategies for Duchenne muscular dystrophy, a fatal, childhood-onset disease

The Muscular Dystrophy Association has announced it has awarded $1.6 million to Asklepios, a biotechnology company closely allied with the University of North Carolina at Chapel Hill, to develop gene therapy strategies for Duchenne muscular dystrophy (DMD), a fatal, childhood-onset disease.

The contract, administered through MDA’s Translational Research Program, is the largest awarded to a private company in MDA’s 54-year history.

“This contract represents a real milestone in MDA’s research program,” said Sharon Hesterlee, MDA’s director of research development, who heads the Translational Research Program. “Enlisting the aid of a for-profit company should increase the efficiency and speed of drug development for neuromuscular disease.”

Effective gene therapy – inserting new genes into cells to compensate for nonfunctional genes – has been an MDA goal for DMD treatment since 1986, when Association-supported researchers first identified flaws in the gene for the protein dystrophin as the underlying cause of the disease.

Without dystrophin, muscle cells become fragile, leading to progressive muscle weakness, resulting in wheelchair reliance by the teens and death from cardiac or respiratory complications by age 30. The disease affects males almost exclusively.

“Currently, the best medical therapy can only slow the progressive muscle weakness of Duchenne,” said neurologist Valerie Cwik, MDA’s medical director. “There is no treatment to stop or reverse this process. Gene therapy strategies, potentially, could compensate for the causative genetic defect, providing a much more effective form of treatment.”

Key researchers at Asklepios are Richard Jude Samulski, director of the Gene Therapy Center at the University of North Carolina, and Xiao Xiao, a biologist in the Department of Molecular Genetics & Biochemistry at the University of Pittsburgh.

The Asklepios researchers plan to insert a proprietary miniaturized version of the dystrophin gene into an adeno-associated viral vector designed to deliver the gene to human muscles. They’ll first conduct toxicology testing required by the Food and Drug Administration to ensure that it can accomplish that task safely, after which they’ll conduct a clinical trial with a small number of patients.

“The financial support provided by MDA will enable Asklepios to aggressively pursue the treatment of DMD on an accelerated pace, for benefit of all of the patients with this disease,” said company CEO Sheila Mikhail.

MDA-funded researchers at the University of Florida in Gainesville are developing strategies for gene therapy of limb-girdle MD in parallel with the Asklepios DMD research.