2014 Helen Walker Research Grant Award
Federico II University & Telethon Institute of Genetics and Medicine (TIGEM) | Giancarlo Parenti, MDSupporting research in biomarkers, disease monitoring, and treatment response for Pompe disease.
Quick Facts
Year Awarded:
2014
Funding Amount:
$140,000
Lead Investigator:
Giancarlo Parenti, MD
Institution:
Federico II University & Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
Research Focus:
microRNA biomarkers for disease progression and enzyme replacement therapy response in Pompe disease
Status:
Completed — Publications Added
Project Title
Analysis of Circulating and Tissue-Specific microRNAs in Pompe Disease
Project Snapshot
In 2014, the AMDA awarded the Helen Walker Research Grant to Giancarlo Parenti, MD, and colleagues at Federico II University and the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, to support a project focused on identifying microRNAs as biomarkers in Pompe disease. The goal of the project was to find measurable biological signals that could help track disease progression and monitor response to enzyme replacement therapy.
The team used next-generation sequencing (NGS) to study microRNAs in Pompe disease models and patient samples. In addition to their potential use as biomarkers, these data were expected to provide insight into disease mechanisms and possibly identify new therapeutic targets.
Research Objectives
The project aimed to address several key questions related to treatment outcomes in Pompe disease:
1. Identification of differently expressed microRNAs in Pompe disease tissues
Researchers aimed to identify microRNAs that are differentially expressed in key tissues affected by Pompe disease. Using a mouse model of Pompe disease, the team compared tissue samples from diseased and healthy animals at different stages of disease progression to determine which microRNAs were altered and potentially linked to disease mechanisms.
2. Identification of circulating microRNAs biomarkers
The study sought to determine whether circulating microRNAs present in blood plasma could serve as non-invasive biomarkers for Pompe disease. By analyzing plasma samples from Pompe disease models and patients, the researchers aimed to identify microRNA patterns that reflect disease status and could potentially help monitor treatment response.
3. Validation and functional evaluation of candidate microRNAs
Candidate microRNAs identified in earlier stages of the project were further evaluated using patient-derived samples and cultured cells. These experiments were designed to determine whether specific microRNAs could be reliably linked to clinical characteristics, disease progression, or response to enzyme replacement therapy, and to explore whether they might play a role in disease pathways.
Why This Matters
This research matters because Pompe disease can progress differently from person to person, and response to enzyme replacement therapy is not always easy to measure with precision. By studying circulating and tissue-specific microRNAs, the team aimed to better understand biological changes linked to disease severity and treatment response, which may help improve clinical monitoring and future research for people living with Pompe disease.
A blood-based biomarker is especially valuable in Pompe disease because it offers a less invasive way to gather information about what may be happening in affected tissues such as skeletal muscle and heart.
Research Team
Institution
Federico II University, Naples, Italy
Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
Lead Investigator
Giancarlo Parenti, MD
Associate Professor, Department of Translational Medicine Sciences, Section of Pediatrics, Federico II University, Naples, Italy
Associate Investigator, Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy
Co-Investigator
Antonietta Tarallo, PhD
Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy
Grant Support
The AMDA awarded $140,000 through the Helen Walker Research Grant to support this project.
Funding supported personnel, next-generation sequencing and qRT-PCR, cell culturing, reagents and consumables, animal housing, travel, and overhead. The proposal budget listed €132,000 in direct project costs across these categories.
Publications Resulting from This Research
microRNAs as biomarkers in Pompe disease
Citation:
Tarallo A, Carissimo A, Gatto F, et al. microRNAs as biomarkers in Pompe disease. Genetics in Medicine. 2019
Summary
This publication explored whether circulating microRNAs could serve as biomarkers for Pompe disease. The researchers found multiple microRNAs that were differentially expressed in Pompe disease mouse tissue and in patient plasma. One microRNA, miR-133a, was elevated in Pompe disease patients, correlated with disease severity, was higher in infantile-onset than late-onset patients, and decreased in three infantile patients after enzyme replacement therapy alongside clinical improvement. These findings suggest that circulating microRNAs may help monitor disease severity and response to therapy in Pompe disease
Read the Article
https://amda-pompe.org/wp-content/uploads/2026/03/MICRORNA.pdf
Related Outputs
At this stage, the main documented output available for this award is the resulting peer-reviewed publication. Additional related outputs will be added here later as they are identified.
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.