22q11.2DS(DGS) deletion syndrome is a rare and phenotypically variable multiorgan syndrome, currently without any cure. Our aim is to develop a standardized approach to formulate pharmacological products useful for clinical trials direct to prevent some serious clinical manifestations of adolescence and adulthood, such as neuropsychiatric and musculoskeletal diseases, or to eliminate or improve cardiovascular defects during embryonic development. Using animal models of 22q11.2DS we have already identified various molecules with known pharmacological characteristics and capable of improving cardiovascular and neurological development phenotypes, such as epigenetic drugs and vitamin B12. Our final goal is to create a cocktail of molecules or to identify at least more than one capable of recovering cardiovascular and neurocompartmental defects.
The innovative aspect of the proposal consists in drug repositioning of drugs used for other pathologies but until now not related to the 22q11.2 DS deletion syndrome. These data can stimulate the interest of the pharmaceutical/pharmaceutical industry in the production of new formulations of already known drugs as well as for the production of a drug or a pharmacological cocktail, until now not known on the market, for the treatment of a rare multiorgan disease such as that caused by 22q11.2 DS deletion.