We have assembled a project team comprised of researchers at the INOVA Translational Medicine Institute (ITMI), Georgetown University, and the University of Kansas who are fully committed to discovering and developing treatments for Vici syndrome patients. The project is focused on testing existing FDA-approved and abandoned drugs on Vici syndrome patient cell lines. Any approved drugs that are found to be effective could be immediately used by Vici syndrome patients. Read more about the drug discovery project here.
We are confident that there will be an increased number of ongoing research projects added to this page. Please bookmark this site and revisit to find out about the latest Vici research and studies.
The Latest Research
EPG5 variants with modest functional impact result in an ameliorated and primarily neurological phenotype in a 3.5-year-old patient with Vici Syndrome.
The EPG5 knockout zebrafish line: A model to study Vici Syndrome.
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuroetabolism.