2012 Helen Walker Research Grant Award
University of Göttingen | Nuno Raimundo, PhDSupporting research aimed at identifying new therapeutic targets for Pompe disease.
Quick Facts
Year Awarded:
2012
Funding Amount:
$100,000
Lead Investigator:
Nuno Raimundo, PhD
Institution:
University of Göttingen, Faculty of Medicine, Department of Biochemistry, Germany
Research Focus:
Therapeutic development and disease mechanism
Status:
Completed
Project Snapshot
In 2012, the AMDA awarded the Helen Walker Research Grant to Nuno Raimundo, PhD, at the University of Göttingen, Faculty of Medicine, in Germany, to investigate new therapeutic strategies aimed at improving muscle function in Pompe disease. While enzyme replacement therapy has significantly improved patient outcomes, it primarily addresses the underlying enzyme deficiency and may not fully correct the complex cellular dysfunction associated with the disease.
This project focused on understanding how mitochondrial dysfunction and impaired autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More contribute to the muscle pathology observed in Pompe disease. The research aimed to determine whether improving mitochondrial performance and enhancing cellular recycling pathways could alleviate symptoms of acid maltase deficiency.
Using mouse models of Pompe disease, the research examined genetic and pharmacological approaches designed to increase mitochondrial function and promote the removal of damaged cellular components. These studies were intended to identify potential therapeutic strategies that could complement existing treatments and improve muscle health in individuals living with Pompe disease.
Research Objectives
The project aimed to address several key questions related to treatment outcomes in Pompe disease:
1. Increase mitochondrial performance to improve skeletal muscle function in Pompe disease
Researchers investigated whether enhancing mitochondrial biogenesis in skeletal muscle could alleviate the muscle pathology associated with Pompe disease. This approach involved crossing Pompe disease mouse models with transgenic mice engineered to increase mitochondrial content and activity.
2. Increase autophagy and lysosomal clearance in skeletal muscle
3. Evaluate pharmacologic activation of mitochondrial and autophagy pathways
Why This Matters
Pompe disease results from the buildup of glycogen within lysosomes due to a deficiency of the enzyme acid alpha-glucosidase. While enzyme replacement therapy addresses the underlying enzyme deficiency, research increasingly suggests that secondary cellular effects — such as mitochondrial dysfunction and impaired autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More — also contribute to muscle pathology.
By exploring therapeutic strategies that target these additional cellular pathways, this research aimed to identify new approaches that could complement existing treatment and improve long-term outcomes for people living with Pompe disease.
Research Team
Institution
Department of Biochemistry, Faculty of Medicine, University of Göttingen, Germany
Lead Investigator
Nuno Raimundo, PhD
Department of Pathology, Yale University School of Medicine
(Group Leader at the University of Göttingen, Germany)
Lead Investigator
Nuno Raimundo, PhD
Department of Pathology, Yale University School of Medicine
(Group Leader at the University of Göttingen, Germany)
Grant Support
The AMDA awarded $100,000 through the Helen Walker Research Grant to support this project.
Funding supported the salary of a postdoctoral scientist, laboratory consumables, and the maintenance and study of mouse models used to investigate mitochondrial and autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More pathways in Pompe disease.
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.