The AMDA is excited to announce that the 2021 Helen Walker Grant for Pompe Disease 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 disease.”

As Dr. Schoser says: There is still a high need to develop new treatments for people living with Pompe disease, although several new therapeutical approaches being tested currently. However, it will likely take some years before meaningful differences between the different new enzyme 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 disease. These cells are an excellent model system, as they can differentiate in-vitro and reflect different GAA mutations of people living with Pompe disease. Unfortunately, primary human myoblasts are expiring fast in tissue culture. To overcome this problem, we will use a specific immortalization 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 disease. After establishing this new platform, we will test the two novel ERTs (avaglucosidase alfa and cipaglucosidase alfa) in comparison to the ERT currently in use, alglucosidase alfa.

In summary, this new platform we are developing for therapy testing in Pompe disease will allow researchers across the world to develop and pre-test their approaches (e.g. all types of ERTs, gene therapy, 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.