Εξατομικευμένη θεραπεία για τη νόσο Erdheim-Chester

Μαρίνα Φεραρίνι, MD (Επιστημονικό Ινστιτούτο «Σαν Ραφαέλε», Μιλάνο, Ιταλία)

Lorenzo Dagna, MD (Επιστημονικό Ινστιτούτο IRCCS San Raffaele, Μιλάνο, Ιταλία)

Έτος απονομής: 2015
Ποσό:  50.000 δολάρια ΗΠΑ

Η Μαρίνα Φεραρίνι, MD, και ο Λορέντζο Ντάγκνα, MD, έλαβαν επιχορήγηση $50.000 για το έργο τους με τίτλο “Εξατομικευμένη θεραπεία για τη νόσο Erdheim-Chester”. Η μελέτη των Ferrarini και Dagna επικεντρώνεται στην κατανόηση του τρόπου με τον οποίο τα κακοήθη κύτταρα σε ασθενείς με τη νόσο Erdheim-Chester συσσωρεύονται και αλληλεπιδρούν με τα γειτονικά φυσιολογικά κύτταρα, τροφοδοτώντας την εξέλιξη της νόσου και προκαλώντας τη δημιουργία βλαβών και όγκων. Με βάση αυτή την κατανόηση, ενδέχεται να καταστεί δυνατή η ανακάλυψη μιας θεραπευτικής στρατηγικής που θα μπορεί να διακόψει αυτές τις διαδικασίες, εμποδίζοντας την εξέλιξη της νόσου.

Τελική έκθεση

Our study focuses on a better understanding of the pathogenic events operating inside ECD lesions, as well as the mechanisms exerted by selected drugs/new molecules on mutated histiocytes. This is expected to result in the discovery of novel strategies providing ECD patients with treatments that are more effective and with fewer side effects than those currently available. So far, we have identified molecules and pathways that may have a key role in disease progression; we plan to investigate how these molecules act to fuel the disease and also test the efficacy of potentially available inhibitors. In order to validate these findings and improve treatment for ECD patients, we are also taking advantage of state-of-the-art bioreactor technology. The bioreactor, originally developed by NASA spatial research, works under conditions of simulated microgravity, allowing the tissue to remain viable during culture and offering the unprecedented possibility to test and compare the effectiveness of treatments. We were able to apply this technology, which we have already exploited for other diseases, also to ECD tissues. We have collected information on the mechanisms exerted by available drugs, particularly kinase inhibitors, on ECD lesions, unveiling new putative therapeutic targets, in particular metabolic pathways, that can be further exploited to design new combination therapies. Finally, we have identified Chromogranin A, a pro-hormone associated with inflammation and heart failure, as a possible marker of cardiac disease also in ECD. This molecule can be detected in plasma samples and can be potentially used as a novel non-invasive procedure to monitor cardiovascular involvement and response to treatment in ECD patients.