Federal Project Grant Award Summary

Children's Mercy Hospital received a Project Grant of $449,952 from the National Center for Advancing Translational Sciences (NCATS), CFDA 93.350, awarded May 1, 2026, with a completion date of April 30, 2028. This grant funds preclinical research assessing everolimus as a therapeutic intervention for VICI Syndrome, a rare pediatric genetic disorder caused by pathogenic variants in the EPG5 gene that results in autophagy dysfunction. The project leverages patient-derived induced pluripotent stem (IPS) cells and genetically engineered mouse models to conduct in vivo proof-of-concept studies evaluating the pharmacokinetics and therapeutic efficacy of everolimus, an FDA-approved rapalog compound with established pediatric safety data.

The research addresses a critical gap in treatment options for VICI Syndrome and related congenital disorders of autophagy (CDAs) through pharmacological enhancement of autophagy function. Deliverables include characterization of everolimus pharmacokinetics in preclinical disease models, assessment of efficacy in reversing neurological phenotypes including motor dysfunction and neuroinflammation, and translation-ready evidence to support potential clinical development of this therapeutic approach for pediatric patients with autophagy-related genetic disorders.