Abstract
Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder of carbohydrate metabolism. The clinical outcome of GSDIa patients is often associated with long-term complications, which need therapy adjustments and are therefore challenging. A better understanding of the pathophysiology of GSDIa is warranted to develop reliable tools to monitor and possibly anticipate long-term complications and treatment response. The availability of a set of biomarkers, detectable in body fluids, can potentially provide critical information on patient conditions by using non-invasive procedures. In this respect, whole blood is an easily accessible and minimally invasive tissue which, reflecting the systemic changes in the body, may provide significant clinical and pathological information on diverse biological processes. Mass spectrometry analysis of body fluids provides multi-dimensional molecular-level information. This project aims at generating and processing independent datasets on GSDIa patients, and at defining molecular pathways that are dysregulated in GSDIa. The participating units (University of Naples Federico II, Alma Mater Studiorum - University of Bologna, and University of Salerno) of this project undertake a coordinated research effort bringing together their relevant expertise in the field of inherited metabolic diseases, biochemistry and data analysis. We believe that this project will provide a strategy to address some of the unmet medical needs in GSDIa, such as monitoring of disease progression and treatment response.
Team di ricerca UNIBO
Camilla Luni
Partner di progetto
Prof.ssa Margherita Ruoppolo (PI) , Università degli Studi di Napoli Federico II; Prof.ssa Daniela Melis, Università degli Studi di Salerno