The fifth annual AMDA Research Grant (the 2014 Helen Walker Research Grant) was awarded to Dr. Giancarlo Parenti with the Federico II University in Naples, Italy for his Project: “Analysis of Circulating and Tissue Specific microRNAs in Pompe Disease.”

Despite advances in treatment, Pompe disease remains associated with unmet medical needs. The aim of the project is to address one of these unmet needs by exploring the possibility of using microRNas (miRNAs) as markers of disease progression and therapeutic efficacy.

The project is directed towards the identification of differentially expressed miRNAs as new biomarkers for Pompe disease and as tools to follow disease progression and therapeutic efficacy. Dr. Parenti and his group have evaluated the expression of miRNAs in the Pompe disease murine model by using next generation sequencing (NGS), a powerful and innovative tool that allows large-scale analysis of genes and nucleotide sequences. Differentially expressed miRNAs identified by NGS in the Pompe disease mouse will be validated in cultured cells from patients and in patients’ samples obtained from plasma and tissue repositories. Studies in cultured cells will be performed to identify possible miRNA-targeted therapeutic strategies.

They expect that circulating and tissues-specific differentially expressed miRNAs can provide valuable biomarkers to monitor disease progression and the effects of therapies in Pompe disease.

This effort has the potential to generate reliable tools that can be used to monitor disease progression and ERT efficacy, and to provide information to optimize therapeutic interventions. The generated data may also provide insight into the mechanisms involved in the pathophysiology of Pompe disease, and into the functional role of miRNAs in the pathogenesis of the disease, possibly leading to the identification of potential therapeutic targets.

Congratulations Dr. Parenti!