Titolo progetto: DEFEAT-LD - Drug discovEry and repurposing to Find a trEAtmenT for Lafora Disease

Programma di finanziamento: PNRR M6/C2_CALL 2022

Responsabile scientifico: prof. Giuseppe Damante

Ruolo del DAME: partner

Descrizione generale:

Lafora disease (LD) is a fatal autosomal recessive form of progressive myoclonic epilepsy affecting adolescents for which no curative therapies exist. Neurodegeneration and clinical manifestations are driven by the accumulation of polyglucosan aggregates (Lafora bodies-LBs) in the brain. This project aims to find a treatment for Lafora disease through drug discovery and repurposing. The aims of the study are to (1) assess the effect on LD patients of VAL-1221, an investigational drug that demonstrated safety and preliminary efficacy in patients with Pompe disease and in LD animal models; (2) identify novel candidate compounds by high throughput screening in LD patients-derived neural stem cells; (3) develop and test in cell cultures SINEUP non-coding RNAs increasing the expression of pancreatic alpha-amylase mRNA to degrade LBs; (4) perform neurophysiological studies and assess the effect of SINEUP, VAL-1221, and novel candidate compounds in LD animal models.

Partner del progetto:

• Università degli Studi di Udine
• Istituto delle Scienze Neurologiche - Bologna
• Università di Perugia
• IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo

Date inizio e fine progetto: 20.05.2023 – 19.05.2025

Budget totale del progetto: 137.960,00 €

Finanziato dall’Unione europea – Next Generation EU – PNRR M6C2 - Investimento 2.1 Valorizzazione e potenziamento della ricerca biomedica del SSN