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2017 Helen Walker Research Grant Awarded

Posted on: January 28, 2018

The seventh annual AMDA Research Grant (named the 2017 Helen Walker Research Grant for Pompe Disease) was awarded to Dr. Virginia Kimonis of the University of California, Irvine for her project titled: “Antisense oligonucleotide treatment for Pompe disease.”

Aim of Project: Pompe disease is a lysosomal glycogen storage disease that causes progressive limb girdle myopathy with diaphragmatic and cardiac muscle involvement. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA (Lumizyme®, or Myozyme®) works well in alleviating the cardiomyopathy; however, many patients continue to have progressive muscle weakness from muscle glycogen accumulation.

Per the Grant Application: Preliminary studies indicate that antisense oligonucleotides developed against muscle specific glycogen synthase (GYS1 ASO) reduce RNA expression of GYS1 and glycogen production in muscle of WT and Pompe mice. We propose to study the efficacy of different doses of the GYS1 ASOs in reducing glycogen production, RNA expression of GYS1 and progressive muscle weakness in Pompe mice. We also plan to study the effect of the optimized ASO in combination with ERT (enzyme replacement therapy). These preclinical studies are essential for development of a novel combination treatment in patients with Pompe disease. If successful in mice, this technology can potentially be moved into the clinic. Our long-term goal is to develop a curative therapy for Pompe disease in patients.

Congratulations Dr. Kimonis!

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