2021 Helen Walker Research Grant Award
Friedrich-Baur-Institute, LMU Munich | Peter Meinke, PhD; & Prof. Benedikt Schoser, MDSupporting research aimed at improving in vitroA laboratory-based system, such as cells in a dish, used to study diseases and test treatments outsi... More disease modeling and therapeutic comparison for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Quick Facts
Year Awarded:
2021
Funding Amount:
$300,000
Lead Investigators:
Peter Meinke, PhD; & Prof. Benedikt Schoser, MD
Institution:
Friedrich-Baur-Institute, LMU Munich
Research Focus:
ERT optimization and preclinical testing platform
Status:
Ongoing
Project Title
Establishing an in vitroA laboratory-based system, such as cells in a dish, used to study diseases and test treatments outsi... More platform for comparative analysis of therapeutic interventions and basic research in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More
Project Snapshot
In 2021, the AMDA awarded the Helen Walker Research Grant to Peter Meinke, PhD, and Prof. Benedikt Schoser, MD, at the Friedrich-Baur-Institute, LMU Munich, to support a project focused on developing a standardized in vitroA laboratory-based system, such as cells in a dish, used to study diseases and test treatments outsi... More platform for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More research. The project centers on generating and characterizing human muscle cell models derived from individuals with different GAA mutationsThe gene responsible for making the GAA enzyme. More.
The research aims to create a system that allows direct comparison of therapeutic approaches, including enzymeA protein that helps the body carry out chemical reactions. More replacement therapies and emerging treatments. By using patient-derived myoblastsImmature muscle cells that can grow and develop into fully formed muscle fibers. In research, scient... More and advanced analytical methods, the team is working to evaluate treatment effects on enzymeA protein that helps the body carry out chemical reactions. More activity, glycogen accumulationThe buildup of glycogen inside cells and tissues when it is not broken down properly. More, and gene expressionThe process by which a gene is used to make a protein. More in a controlled laboratory setting.
Research Objectives
The project aimed to address several key questions related to treatment outcomes in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More:
1. Immortalization and characterization of human myoblast cultures
Researchers will create stable muscle cell models by immortalizing primary myoblastsImmature muscle cells that can grow and develop into fully formed muscle fibers. In research, scient... More from individuals with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More and matched controls. These cells will be analyzed in both growth and differentiated states to confirm they accurately reflect disease biology using gene expressionThe process by which a gene is used to make a protein. More, enzymeA protein that helps the body carry out chemical reactions. More activity, and glycogenA stored form of sugar used for energy. More measurements.
2. Comparative evaluation of enzyme replacement therapies across cell models
The team will compare alglucosidase alfaA form of enzyme replacement therapy used to treat Pompe disease by providing a lab-made version of ... More, avalglucosidase alfaA newer enzyme replacement therapy designed to improve delivery of the enzyme to muscle cells. More, and cipaglucosidase alfaAn investigational enzyme replacement therapy designed to improve enzyme activity in muscles. More in the cell platform to assess enzymeA protein that helps the body carry out chemical reactions. More uptake, GAA activity, and glycogenA stored form of sugar used for energy. More clearance. Gene expressionThe process by which a gene is used to make a protein. More analysis will also be used to evaluate how each therapy affects cellular pathways and treatment response.
3. Quantitative analysis of gene expression, enzyme activity, and glycogen content
Researchers will apply RNA sequencingA laboratory technique used to study gene activity by analyzing RNA in cells. More, GAA activity assays, and glycogenA stored form of sugar used for energy. More quantification methods to generate consistent, measurable data across models. These analyses will help link molecular changes to treatment outcomes and validate the platform.
4. Development of single-cell glycogen detection using Raman microscopy
Raman microscopy will be used to visualize glycogenA stored form of sugar used for energy. More in individual cells before and after treatment. This approach allows researchers to observe how therapies affect glycogenA stored form of sugar used for energy. More clearance at the single-cell level, providing more detailed insight than traditional bulk measurements.
Why This Matters
Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More is caused by a deficiency in the GAA enzymeA protein that helps the body carry out chemical reactions. More, leading to glycogen buildupThe buildup of glycogen inside cells and tissues when it is not broken down properly. More in muscle tissue. Current treatments, such as enzymeA protein that helps the body carry out chemical reactions. More replacement therapy, show variable results and often only slow disease progression. This research aims to improve how therapies are evaluated by creating a reliable model system that reflects patient variability. A more accurate testing platform may help guide treatment development, improve comparisons between therapies, and support better clinical decision-making for individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Research Team
Institution
Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany
Technical University of Munich, Germany
Lead Investigator
Peter Meinke, PhD
Research and group leader
Lead Investigator
Prof. Benedikt Schoser, MD
Senior consultant (Oberarzt)
Co-Investigators
Christoph Haisch, PhD
Chair of Analytical Chemistry, Technical University of Munich
Lead Investigator
Peter Meinke, PhD
Research and group leader
Lead Investigator
Prof. Benedikt Schoser, MD
Senior consultant (Oberarzt)
Co-Investigator
Christoph Haisch, PhD
Chair of Analytical Chemistry, Technical University of Munich
Grant Support
The AMDA awarded $300,000 through the Helen Walker Research Grant to support this project.
Funding supported cell cultureA laboratory method used to grow cells outside the body so researchers can study disease and test tr... More systems and laboratory consumables, reagentsSubstances used in laboratory experiments to help detect, measure, or trigger chemical reactions. More and assays for GAA activity and glycogenA stored form of sugar used for energy. More measurement, RNA sequencingA laboratory technique used to study gene activity by analyzing RNA in cells. More analysis, Raman microscopy access, and personnel support for a laboratory technician of PhD student.
Publications Resulting from This Research
This section will be updated as we collect more information about publications resulting from this research.
Related Outputs
This section will be updated as we collect more information about presentations, follow-up studies, or related outputs from this project.
Ongoing Impact
Research supported by the Helen Walker Research Grant helps build knowledge that can shape future studies, clinical care, and treatment strategiesA planned approach to managing disease that may include medicines, monitoring, supportive care, and ... More in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. As additional publications, presentations, and follow-up work emerge, this page will continue to be updated.
About the Helen Walker Research Grant
The Helen Walker Research Grant honors Helen Walker, a dedicated patient advocateA person who helps patients and families navigate care, information, services, and support. More and leader in the Pompe community. Through this grant, the AMDA supports innovative research aimed at improving understanding, treatment, and care for individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Explore more Helen Walker Research Grant awardees and the growing body of Pompe research supported by the AMDA.