2014 Helen Walker Research Grant Award
Federico II University & Telethon Institute of Genetics and Medicine (TIGEM) | Giancarlo Parenti, MDSupporting research in biomarkersA measurable sign in the body that helps track disease progression or treatment response. More, disease monitoring, and treatment response for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
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
Status:
Completed — Publications Added
Project Title
Analysis of Circulating and Tissue-Specific microRNAsSmall molecules that help control how genes are expressed in cells. More in Pompe DiseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More
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 microRNAsSmall molecules that help control how genes are expressed in cells. More as biomarkersA measurable sign in the body that helps track disease progression or treatment response. More in 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 find measurable biological signals that could help track disease progression and monitor response to enzymeA protein that helps the body carry out chemical reactions. More replacement therapy.
The team used next-generation sequencing (NGS)Advanced technology used to quickly analyze genetic material and identify gene changes. More to study microRNAsSmall molecules that help control how genes are expressed in cells. More in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More models and patient samples. In addition to their potential use as biomarkersA measurable sign in the body that helps track disease progression or treatment response. More, 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 diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More:
1. Identification of differentially expressed microRNAs in Pompe disease tissues
Researchers aimed to identify microRNAsSmall molecules that help control how genes are expressed in cells. More that are differentially expressed in key tissues affected by Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. Using a mouse modelA laboratory mouse used to study disease and test treatments before human trials. More of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More, the team compared tissue samples from diseased and healthy animals at different stages of disease progression to determine which microRNAsSmall molecules that help control how genes are expressed in cells. More were altered and potentially linked to disease mechanisms.
2. Identification of circulating microRNAs biomarkers
The study sought to determine whether circulating microRNAsSmall molecules that help control how genes are expressed in cells. More present in blood plasma could serve as non-invasive biomarkersA measurable sign in the body that helps track disease progression or treatment response. More for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. By analyzing plasma samples from Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More models and patients, the researchers aimed to identify microRNASmall molecules that help control how genes are expressed in cells. More patterns that reflect disease status and could potentially help monitor treatment response.
3. Validation and functional evaluation of candidate microRNAs
Candidate microRNAsSmall molecules that help control how genes are expressed in cells. More 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 microRNAsSmall molecules that help control how genes are expressed in cells. More could be reliably linked to clinical characteristics, disease progression, or response to enzymeA protein that helps the body carry out chemical reactions. More replacement therapy, and to explore whether they might play a role in disease pathways.
Why This Matters
This research matters because Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More can progress differently from person to person, and response to enzymeA protein that helps the body carry out chemical reactions. More replacement therapy is not always easy to measure with precision. By studying circulating and tissue-specific microRNAsSmall molecules that help control how genes are expressed in cells. More, 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 diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
A blood-based biomarkerA measurable sign in the body that helps track disease progression or treatment response. More is especially valuable in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More because it offers a less invasive way to gather information about what may be happening in affected tissues such as skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More 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
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 sequencingAdvanced technology used to quickly analyze genetic material and identify gene changes. More and qRT-PCR, cell culturing, reagentsSubstances used in laboratory experiments to help detect, measure, or trigger chemical reactions. More 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
Research supported through the 2014 Helen Walker Research Grant has contributed to the following peer-reviewed publications.
microRNAs as biomarkers in Pompe disease
Tarallo A. Carissimo A, Gatto F, et al. microRNAsSmall molecules that help control how genes are expressed in cells. More as biomarkersA measurable sign in the body that helps track disease progression or treatment response. More in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More Genetics in Medicine. 2019.
Summary
This publication explored whether circulating microRNAsSmall molecules that help control how genes are expressed in cells. More could serve as biomarkersA measurable sign in the body that helps track disease progression or treatment response. More for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. The researchers found multiple microRNAsSmall molecules that help control how genes are expressed in cells. More that were differentially expressed in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More mouse tissue and in patient plasma. One microRNASmall molecules that help control how genes are expressed in cells. More, miR-133a, was elevated in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More patients, correlated with disease severity, was higher in infantile-onset than late-onset patients, and decreased in three infantile patients after enzymeA protein that helps the body carry out chemical reactions. More replacement therapy alongside clinical improvement. These findings suggest that circulating microRNAsSmall molecules that help control how genes are expressed in cells. More may help monitor disease severity and response to therapy in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
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 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.