In 2010 the AMDA solicited grant applications from researchers around the world. After careful consideration and consultation with our Scientific Advisory Board, Dr. Amalfitano of Michigan State University was selected as the recipient of the First Annual AMDA Research Grant for his proposal concerning gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More for Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. This grant was made possible by the fundraising efforts of Rod and Carrie Barriger.
Abstract of Dr. Amalfitano’s proposal: Acid Maltase Deficiency (AMD, also known as Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More), is due to a patient’s inability to produce enough acid alpha glucosidase (GAA). This results in glycogen accumulationThe buildup of glycogen inside cells and tissues when it is not broken down properly. More in the patient’s limb muscles, as well as cardiac muscles (in those patients affected by the early age onset (infantile) form of the disease). Based upon published results using animal models, intravenous infusionA method of delivering medication through an IV. More of recombinant rhGAA (Myozyme® or Lumizyme®) at current doses is not adequate to provide maximal improvement to so-treated AMD/Pompe patients. However, current production methods for recombinant proteins such as GAA may not be capable of producing enough GAA enzymeA protein that helps the body carry out chemical reactions. More to support higher and more frequent dosing. Our multiple, previously published studies confirm that a single “Gene TherapyA developing treatment that aims to fix, replace, or add genetic instructions. More” treatment of most AMD/Pompe patients can potentially overcome this problem, by allowing for high level production of GAA from the livers of AMD/Pompe patients for a continuous period of time (24 hours a day), for >1 year in some of our studies. We propose to now confirm these promising results in larger animal models of AMD/Pompe , so that we can both determine the safety and potential effectiveness of gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More for AMD/Pompe in future human trials. The results will power future expanded studies in large animal models, as well help justify human clinical trialsA research study that tests new treatments or approaches in people. More in patients affected by AMD/Pompe.