Darin Falk, a postdoctoral fellow in the department of pediatrics at the University of Florida in Gainesville, has received an MDA development grant (DG) totaling $179,846 over three years. The funds will help support Falk's research into the potential for gene therapy as a treatment for Pompe disease (acid maltase deficiency or AMD). (MDA development grants are awarded to exceptional postdoctoral candidates who have the best chance of becoming independent researchers and future leaders of neuromuscular disease research.)

The current treatment for Pompe disease is enzyme replacement therapy (ERT), in which the acid maltase enzyme is administered to patients via intravenous infusion. ERT has dramatically changed the outcomes for people with Pompe disease but, Falk says, it "does not effectively reach and treat the disease component in the central nervous system."

In a Pompe research mouse model, Falk and colleagues will use the emptied-out shell of an adeno-associated virus (AAV) to deliver the gene for the acid maltase enzyme to the heart, skeletal muscles and spinal cord.

It’s hoped that the result will be sustained enzyme activity at appropriate levels in the targeted tissues.

Falk noted that while gene therapy already is a promising treatment strategy, further development and optimization of AAV delivery methods will allow scientists to more precisely target key tissues, resulting in improved outcomes for people with the disease.