Metformin in Children and Adults With Fragile X Syndrome

NCT ID: NCT03722290

Last Updated: 2021-02-04

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE2
• Total Enrollment: 15 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2018-09-01
• Study Completion Date: 2020-11-01

Brief 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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: TREATMENT
• Blinding Strategy: NONE

Study Groups

Metformin

Metformin 500mg twice a day per os for 9 weeks

Group Type: EXPERIMENTAL

Metformin

Intervention Type: DRUG

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

Interventions

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.

Intervention Type: DRUG

Other Intervention Names

Glucophage

Eligibility Criteria

Inclusion Criteria

• Aged between 10 et 45 years old
• BMI > 18.3
• Molecular diagnosis of FXS
• Accompanied by his legal tutor

Exclusion Criteria

• Pregnancy/Breastfeeding
• Intolerance to metformin
• History of lactic acidosis
• Gastric/renal/hepatic pathology
• Acute medical condition
• Concomitant use of ACE inhibitors
• Modification of antipsychotic treatments in the last 6 weeks

• Minimum Eligible Age: 10 Years
• Maximum Eligible Age: 45 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

FRAXA Research Foundation

OTHER

Sponsor Role: collaborator

Université de Sherbrooke

OTHER

Sponsor Role: lead

Responsible Party

Çaku

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Locations

Université de Sherbrooke

Sherbrooke, Quebec, Canada

Countries

Canada

Other Identifiers

2019-2797

Identifier Type: -

Identifier Source: org_study_id