2010 Helen Walker Research Grant Award
Michigan State University | Andrea Amalfitano, DO, PhDSupporting research aimed at improving gene therapy approaches for Pompe disease.
Quick Facts
Year Awarded:
2010
Funding Amount:
$50,000
Lead Investigator:
Andrea Amalfitano, DO, PhD
Institution:
Michigan State University
Research Focus:
Gene therapy development
Status:
Completed
Project Title
Preclinical Studies for Acid Maltase Deficiency (AMD)Another name for Pompe disease. More Gene Therapy in a Non-human Primate Model
Project Snapshot
In 2010, the AMDA awarded the Helen Walker Research Grant to Andrea Amalfitano, DO, PhD, at Michigan State University, to support a project focused on developing gene therapy approaches for Pompe disease. The goal of the project was to evaluate whether delivering the GAA gene to the liver using advanced viral vectors could enable long-term production and systemic distribution of the enzyme needed to treat the disease.
The research proposed testing this strategy in a non-human primate (baboon) model to determine whether gene transfer could safely produce circulating acid alpha-glucosidase enzyme and allow uptake by skeletal and cardiac muscle. These studies were designed as a critical step toward future clinical trials of gene therapy for Pompe disease.
Research Objectives
The project aimed to address several key questions related to treatment outcomes in Pompe disease:
1. Deliver the baboon GAA gene to the liver using an adenoviral gene therapy vector
Researchers proposed constructing a fully deleted adenovirus vector carrying the baboon acid alpha-glucosidase (GAA)The enzyme the body needs to break down glycogen. In Pompe disease, this enzyme is missing or does n... More gene and delivering it to baboon liver using a balloon-catheter mediated system. This approach was designed to test whether liver-directed gene transfer could safely produce a circulating enzyme in a large animal model.
2. Measure enzyme production and distribution following gene transfer
The research team planned to analyze GAA activity in plasma and muscle tissue of treated animals over time to determine whether gene transfer to the liver could produce a circulating enzyme capable of reaching and correcting affected tissues.
Why This Matters
This research matters because current enzyme replacement therapy does not always provide optimal clinical improvement for individuals living with Pompe disease. By studying gene therapy approaches that enable the body to produce its own supply of the missing enzyme, researchers aimed to better understand how long-term enzyme production might improve treatment outcomes and potentially reduce the need for repeated infusions.
If successful, this strategy could help establish the foundation for future gene therapy trials and contribute to the development of more durable treatment approaches for people living with Pompe disease.
Research Team
Institution
Michigan State University, United States
Lead Investigator
Andrea Amalfitano, DO, PhD
Professor of Pediatrics, Microbiology and Molecular Genetics
Lead Investigator
Andrea Amalfitano, DO, PhD
Professor of Pediatrics, Microbiology and Molecular Genetics
Grant Support
The AMDA awarded $50,000 through the Helen Walker Research Grant to support this project.
Funding supported the development of the viral gene therapy vector, laboratory assays to detect enzyme activity and immune responses, and the costs associated with conducting gene transfer studies in baboon models.
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 strategies in Pompe disease. 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 advocate 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 disease.
Explore more Helen Walker Research Grant awardees and the growing body of Pompe research supported by the AMDA.