2010 Helen Walker Research Grant Award
Michigan State University | Andrea Amalfitano, DO, PhDSupporting research aimed at improving gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More approaches for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Quick Facts
Year Awarded:
2010
Funding Amount:
$50,000
Lead Investigator:
Andrea Amalfitano, DO, PhD
Institution:
Michigan State University
Research Focus:
Gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More development
Status:
Completed
Project Title
Preclinical StudiesResearch conducted before testing in humans, often using cells or animal models. More for Acid Maltase Deficiency (AMD)Another name for Pompe disease. More Gene TherapyA developing treatment that aims to fix, replace, or add genetic instructions. More 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 therapyA developing treatment that aims to fix, replace, or add genetic instructions. More approaches for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. The goal of the project was to evaluate whether delivering the GAA geneThe gene responsible for making the GAA enzyme. More to the liver using advanced viral vectors could enable long-term production and systemic distribution of the enzymeA protein that helps the body carry out chemical reactions. More 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 enzymeA protein that helps the body carry out chemical reactions. More and allow uptake by skeletal and cardiac muscle. These studies were designed as a critical step toward future clinical trialsA research study that tests new treatments or approaches in people. More of 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.
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. Deliver the baboon GAA gene to the liver using an adenoviral gene therapy vector
Researchers proposed constructing a fully deleted adenovirus vectorA delivery system, often based on a modified virus, used to carry genetic material into cells. More 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 enzymeA protein that helps the body carry out chemical reactions. More 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 enzymeA protein that helps the body carry out chemical reactions. More capable of reaching and correcting affected tissues.
Why This Matters
This research matters because current enzymeA protein that helps the body carry out chemical reactions. More replacement therapy does not always provide optimal clinical improvement for individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. By studying gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More approaches that enable the body to produce its own supply of the missing enzymeA protein that helps the body carry out chemical reactions. More, researchers aimed to better understand how long-term enzymeA protein that helps the body carry out chemical reactions. More production might improve treatment outcomes and potentially reduce the need for repeated infusionsA method of delivering medication through an IV. More.
If successful, this strategy could help establish the foundation for future gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. More trials and contribute to the development of more durable treatment approaches for people living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
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 vectorA delivery system, often based on a modified virus, used to carry genetic material into cells. More, laboratory assays to detect enzymeA protein that helps the body carry out chemical reactions. More activity and immune responsesThe body's natural defense system reacting to substances it sees as foreign, including treatments li... More, 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 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.