MEDAL
L’Ente Capofila del progetto è il IRCCS Ospedale San Raffaele. Il Responsabile Scientifico del progetto è il Professor Alessandro Aiuti.
| Patologia: | Le malattie da accumulo lisosomiale |
| Area Tematica: | Fisiopatologia endocrino-metabolica |
| Data di Inizio Progetto: | 01.04.2026 |
| Data di Fine Progetto: | 31.03.2029 |
| Finanziamento: | € 2.000.000,00 |
| Partenariato | IRCCS Ospedale San Raffaele IRCCS Fondazione San Gerardo dei Tintori ASST Fatebenefratelli Sacco |
Lysosomal storage disorders (LSDs) are metabolic diseases caused by deficiency of a specific enzyme, leading to accumulation of undigested macromolecules in multiple tissues. This results in severe multi-organ damage, including skeletal dysplasia. Due to the progressive nature of these diseases, patients are frequently diagnosed late when signs and symptoms are already present. Current therapies do not sufficiently address skeletal manifestations, leaving patients with high unmet medical need. This calls for innovative treatment approaches able to better address the skeletal dysplasia.
The present project entails 4 objectives which tackle the limitations underlined above with the goal to provide a definitive cure for these diseases:
1) to develop and implement a neonatal metabolic screening test for skeletal LSDs in order to ensure timely diagnosis and treatment;
2) to investigate the key cellular players involved in skeletal remodeling in order to provide a better understanding of disease pathogenesis and correction mechanisms at molecular and cellular levels;
3) to implement and conduct an observational clinical study on the skeletal outcome in these LSDs, thus providing relevant clinical data on the progression of skeletal dysplasia during natural history and standard of care treatment;
4) to develop hematopoietic stem/progenitor cell gene therapy approaches for skeletal LSDs in an innovative platform model which foresees the parallel development for multiple disease.