SynLeigh
| Patologia: | Sindrome di Leigh |
| Area Tematica: | Malattie Rare |
| Data di Inizio Progetto: | 01/06/2026 |
| Data di Fine Progetto: | 01/06/2029 |
| Finanziamento: | € 500.000,00 |
| Partenariato | IRCCS Istituto Neurologico “Carlo Besta” (Milano) Heinrich Heine University of Dusseldorf (Germania) Fraunhofer Institute for Translational Medicine and Pharmacology (Germania) University of Luxembourg (Lussemburgo) McGill University (Canada) Autonomous University of Barcelona (Spagna) University of Latvia (Lettonia) |
Leigh syndrome spectrum (LSS) disorders affect 1:40,000 live births causing neurodevelopmental delay, movement impairment, and early death.
Most LSS forms are currently incurable. The Consortium SynLeigh aims to identify therapeutic interventions and their potential synergy to develop a roadmap for developing clinical trials for LSS. Members of our consortium previously discovered two potential therapeutics for which they have already obtained orphan drug designation (ODD) for their use in LSS.
We will leverage these findings to assess the effectiveness and toxicity of these molecules and their possible synergy.
We will employ complementary approaches using patient-derived human models (including neurons, brain organoids, blood-brain barrier, and Organs-on-chip technologies), followed by validations and toxicology assessment in small and large animal models, and computational integrations.
We have already initiated to engage with the European Medicine Agency (EMA) and their indications will guide our experimental design to collect findings that are deemed satisfactory by the regulators.
Altogether, we aim to provide a mechanistic understanding and practical strategy for the establishment of treatments for individuals affected by currently incurable LSS disorders.