MT2-ASD
| Patologia: | Sindrome Phelan-McDermid e X Fragile |
| Area Tematica: | Malattie rare |
| Data di Inizio Progetto: | 01/03/2026 |
| Data di Fine Progetto: | 01/03/2029 |
| Finanziamento: | € 360.000,00 |
| Partenariato | IRCCS Ospedale San Raffaele (Milano) Canadian Institutes Health Research (CIHR) (Canada) Fondazione Telethon (Milano) Agence Nationale de la Recherche – ANR (Francia) Vinnova (Svezia) |
Autism spectrum disorder (ASD) affects how people communicate, interact, and behave. Many individuals with ASD also struggle with sleep problems, anxiety, and irritability. Two genetic conditions, Fragile X Syndrome (FXS) and Phelan-McDermid Syndrome (PMS), are closely linked to ASD, but there are no approved treatments for them.
We are developing a new drug called COS01 that targets the melatonin MT2 receptor, which helps regulate sleep and brain function. COS01 has already shown a good safety profile in early tests. Now, we will study how it affects sleep, social behavior, and other ASD-like symptoms in mouse models of FXS and PMS. Our research has four main steps:
1. Studying sleep and behavior – We will examine how FXS and PMS affect sleep and social behavior in mice and see if COS01 helps improve these issues (Canada, Italy).
2. Understanding brain activity – Using advanced tools, we will study how brain circuits are affected in FXS and PMS and whether COS01 can restore normal brain function (Italy).
3. Learning how COS01 works – We will investigate how COS01 activates the MT2 receptor and changes brain cell activity (France). 4. Preparing for human trials – We will create a safe drug formula, test how to measure COS01 in human blood, and submit approval documents for clinical trials (Sweden).
Our goal is to get COS01 ready for human trials within three years, providing the first possible treatment for FXS and PMS. This could greatly improve sleep, anxiety, and overall quality of life for people with these conditions.