Metformin in Children and Adults With Fragile X Syndrome
Status:
Completed
Trial end date:
2020-11-01
Target enrollment:
Participant gender:
Summary
Fragile X Syndrome (FXS) is caused by loss of FMR1 expression on the X chromosome that leads
to increased mRNA translation, which results in hyperactivation of ERK (extracellular
signal-regulated kinase) and mTORC1 (mechanistic target of rifampicin complex 1) signalling
and consequently in synaptic dysfunction and neurological development. There is presently no
cure for FXS. Recent studies suggest that metformin (a widely prescribed drug for type II
diabetes in children and adults) which crosses the blood-brain barrier, corrects various
neurological and behavioral FXS phenotypes by normalizing ERK signaling, EIF4E
phosphorylation and lowering expression of MMP9 to normal. Since this drug has not been
previously used specifically for treatment of FXS (only few cases reported), the
investigators propose an open-label trial of metformin in children and adults with FXS to
better understand the safety and efficacy in both behavior and cognition.