NCT03722290

Metformin in Children and Adults With Fragile X Syndrome

Evaluate the Efficacy and Safety of Metformin in Children and Adults With Fragile X Syndrome: an Open-label Study

• Status: Completed
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 15 (actual)
• Sponsor: Université de Sherbrooke · Academic / Other
• Sex: All
• Age: 10 Years – 45 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Fragile X Syndrome

Interventions

Type	Name	Description
DRUG	Metformin	Oral administration of metformin 250mg (twice a day) for the 1st week followed by metformin 500mg (twice a day) for the next 8 weeks.

Timeline

• Start date: 2018-09-01
• Primary completion: 2019-10-24
• Completion: 2020-11-01
• First posted: 2018-10-26
• Last updated: 2021-02-04

Locations

1 site across 1 country: Canada