Ricardo A. Maselli, UC Davis professor of neurology, has received a $300,000 grant from the Muscular Dystrophy Association to test the use of stem cells as a vehicle for delivering ColQ, which is a protein that is deficient in a severe form of congenital myasthenic syndrome.
Congenital myasthenic syndromes are a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but also can appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, move the eyes, and those used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in these conditions.
The grant provides $100,000 a year over three years to test the therapeutic effects of introducing modified mesenchymal stem cells secreting ColQ into engineered mice lacking ColQ. The goal is to develop therapies that would allow replacement of the ColQ gene product in humans affected with congenital deficiency of endplate acetylcholinesterase.
Maselli said he is very excited about the project and deeply indebted to MDA for their generous award.
“I am thrilled about testing the effect of genetically engineered mesenchymal stem cells to treat one of the various forms of muscular dystrophy," Maselli said. "I am very much indebted to MDA for this generous award."
MDA’s long-term investment in research has contributed to more than 30 clinical trials in the past year alone for novel drugs and other therapies aimed at treating a broad spectrum of neuromuscular diseases.
“These new grants are potential game-changers, a signal of our passionate resolve to help kids and adults fighting neuromuscular diseases live longer and grow stronger,” said Valerie Cwik, MDA's executive vice president and chief medical and scientific officer.
“We’re supporting the best of the best, thanks to generous sponsors and supporters who champion our work,” she said. “For MDA families, advancements can’t come soon enough.”
The Muscular Dystrophy Association is the world’s leading nonprofit health agency dedicated to saving and improving the lives of people with muscle disease, including muscular dystrophy, amyotrophic lateral sclerosis (ALS) and other neuromuscular diseases. It does so by funding worldwide research to find treatments and cures; by providing comprehensive health care services and support to MDA families nationwide; and by rallying communities to fight back through advocacy, fundraising and local engagement.