Clinical Trial of Metformin for Fragile X Syndrome

FRAXA Research Foundation has awarded $50,000 to fund a clinical trial of metformin for children and adults with Fragile X syndrome. Principal Investigator Dr. Artuela Çaku and Co-Investigator Dr. Francois Corbin are currently analyzing the results of this open-label trial.

Galarneau lab team
$50,000 Grant

Artuela Çaku MD
Principal Investigator

Jean-François Lepage, PhD

University of Sherbrooke
2018-2019 FRAXA Clinical Trial
$50,000 over 2 years

Why Metformin?

Metformin is the most commonly prescribed drug for type 2 diabetes, to control high blood sugar. With FRAXA funding, several investigators including Nahum Sonenberg, Sean McBride and Tom Jongens have shown that metformin can also correct many signs of Fragile X in mouse and fly models. In these animal models, metformin normalizes several aspects of neuron-to-neuron communication which are impaired in Fragile X, including ERK signaling, EIF4E phosphorylation, and expression of MMP9.

While a growing number of families are trying metformin and reporting mixed results, metformin has not yet been systematically studied in patients with Fragile X syndrome. This open-label trial is designed to better understand the safety and efficacy of this medicine on behavior and cognition, and to find the best dosages for children and adults.

What's Involved in this Study?

15 children and adults with Fragile X syndrome took metformin 250mg twice a day for the first week, followed by metformin 500mg twice a day for the next 8 weeks.

The study measured changes in the total score on the Aberrant Behavior Checklist-Community (ABC-C) after 9 weeks of metformin treatment. The ABC-C is a 58-item behavior scale which is filled out by a caregiver. In addition, Transcranial Magnetic Stimulation (TMS) was used to look for changes in cortical excitability and Electroencephalography (EEG) assessed levels of synaptic plasticity.

This study has completed enrollment. If you are interested in metformin, other trials are in progress and accepting participants.

View all Trials of Metformin for Fragile X
Galarneau lab team

Explore Current Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

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