FABRY_NET

The FABRY_NET project was conceived as an internal research project of the Nefrocenter network, with the aim of improving early-diagnosis and clinical-management strategies through systematic screening and multidisciplinary care in patients undergoing dialysis treatment. FD is a rare, X-linked multisystem genetic disorder caused by mutations of the GLA gene, responsible for the deficiency of the enzyme α-galactosidase A and the lysosomal accumulation of glycosphingolipids. Renal involvement represents one of the main clinical manifestations and may progress to end-stage renal disease (ESRD).
The project aims to involve all the centres of the Nefrocenter network, where systematic screening will be performed using Dried Blood Spot (DBS) Kit. The diagnostic protocol integrates enzymatic assay, molecular sequencing of the GLA gene and sex-specific clinical-genetic assessments, enabling more accurate identification of pathogenic mutations and variants of uncertain significance (VUS).
FABRY_NET also promotes the creation of an interdisciplinary collaborative network aimed at early diagnosis, the prevention of complications and the optimisation of the clinical management of renal patients and their relatives.

The FABRY_NET project aims to improve the early diagnosis of Fabry disease in the dialysis population through structured screening programmes. The main objectives include estimating the prevalence of the disease in haemodialysis patients and the early identification of GLA gene mutations. The project also Involves the establishment of a multidisciplinary network capable of integrating expertise in nephrology, medical genetics, molecular biology and laboratory medicine, thereby promoting innovative models for the clinical management of rare diseases. Further objectives concern the early identification of relatives of index cases through family-screening programmes and genetic counselling, with the aim of intervening in the early, pre-symptomatic stages of the disease.
The research activities will also allow the collection of clinical and genetic data useful for the development of observational registries and future personalised-medicine strategies, improving therapeutic appropriateness and the prevention of progression to end-stage Kidney disease (ESKD).
The project will contribute to improving early-diagnosis and clinical-management strategies for Fabry disease in the dialysis population, promoting more timely and appropriate diagnostic pathways.
Positive outcomes are also expected in terms of greater multidisciplinary integration, early identification of at-risk subjects and optimisation of the clinical and care managment of patients and their family members.
FABRY NET has the potential to serve as a repicable model of a clinical-scientific network for the integrated managment of rare diseases in the fields of nephrology and predictive medicine.