May, 2022
A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome
Human Molecular Genetics, ddac111, https://doi.org/10.1093/hmg/ddac111
PTEN hamartoma tumor syndrome (PHTS) is a complex neurodevelopmental disorder characterized by mTOR (mechanistic target of rapamycin) overactivity. Limited data suggest that mTOR inhibitors may be therapeutic. No placebo-controlled studies have examined mTOR inhibition on cognition and behavior in humans with PHTS with/without autism.
Everolimus was well tolerated in PHTS patients. The primary efficacy endpoint did not reveal improvement. However, several secondary efficacy endpoints moved in the direction of improvement.
Several IDDRC investigators and staff are co-authors including Siddarth Srivastava, April Levin, Kira Dies, Mustafa Sahin, Bo Zhang.