The AMDA is excited to announce that the 2021 Helen Walker Grant for Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More was awarded to Dr. Peter Meinke and Dr. Benedikt Schoser for their Project entitled: “Generation of a platform for comparative testing of new treatments for people living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.”
As Dr. Schoser says: There is still a high need to develop new treatments for people living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More, although several new therapeutical approaches being tested currently. However, it will likely take some years before meaningful differences between the different new enzymeA protein that helps the body carry out chemical reactions. More replacements therapies (ERTs) will come to light in clinical real life data sets.
Therefore, we are going to develop a model system for comparative testing of therapeutical approaches, which will allow a direct comparison and a pre-evaluation of therapy efficacy. For this we will use primary muscle cells from people living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. These cells are an excellent model system, as they can differentiate in-vitro and reflect different GAA mutationsA change in a gene that can affect how it works. More of people living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. Unfortunately, primary human myoblastsImmature muscle cells that can grow and develop into fully formed muscle fibers. In research, scient... More are expiring fast in tissue culture. To overcome this problem, we will use a specific immortalizationA laboratory technique that allows cells to keep growing and dividing for long periods so they can b... More method that allows them to keep their myogenic character. This new platform for therapy testing will be properly characterized and used to investigate molecular aspects of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. After establishing this new platform, we will test the two novel ERTs (avaglucosidase alfa and cipaglucosidase alfaAn investigational enzyme replacement therapy designed to improve enzyme activity in muscles. More) in comparison to the ERT currently in use, alglucosidase alfaA form of enzyme replacement therapy used to treat Pompe disease by providing a lab-made version of ... More.
In summary, this new platform we are developing for therapy testing in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More will allow researchers across the world to develop and pre-test their approaches (e.g. all types of ERTs, gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More, substrate reduction therapy, etc.) in a relevant and robust system to allow a pre-evaluation of therapy efficacy in a human system. Our ultimate goal is to speed up new therapy developments.