Metformin in Children With Fragile X Syndrome

Fudan University

Status and phase: Enrolling; Phase 4

Conditions: Metformin; Fragile X Syndrome

Treatments: Drug: Metformin; Drug: Placebo

Study type: Interventional

Funder types: Other

Identifiers

NCT05120505

FXS2021_1.0

Details and patient eligibility

About

This study is a controlled trial of metformin in children with fragile X syndrome(FXS). The age of FXS children range from 2 to 16 years old. Participants will be randomized in a double-blind design to either drug or placebo for 6-month period. The primary objectives are to assess metformin in treatment of behavior problems, cognitive and language with fragile X syndrome.

Full description

This is a single-center study at the Children's Hospital of Fudan University for FXS patients aged 2 to 16 years inclusive. It is a randomized, double-blind, placebo-controlled trial of metformin.

Studies showed that there were pathogenically over activates of mTOR and MAPK/ERK pathways in FXS. Metformin, a guanidine derivative ,has been shown to reduce mTORC1 pathway activity in an AMPK-dependent manner and has also been shown to reduce MAPK pathway activity. Metformin treatments for FXS have been reported in animal experiments, some open label trials of metformin in FXS patients had been reported. Therefore, metformin has potential to rescue symptoms in children with FXS.

In this study, researchers hope to investigate the improvement effect of metformin on FXS symptoms such as behavior problems, cognition, language.

The intervention period is 6 months, follow-up visit at 1 year. The researchers will also assess the side effects of the study medication throughout the trial.

Enrollment: 20 estimated patients

Sex: All

Ages: 2 to 16 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Genetic testing confirms the diagnosis of FXS
• Participate in the study with the informed consent of the guardian
• BMI>the 3rd percentile
• Not taking more than 2 therapeutic drugs
• Able to receive regular follow-up visits

Exclusion criteria

• Malnutrition
• Primary heart disease
• Severe infection or acute clinical illness
• Gastrointestinal, renal, or hepatic disease
• Previous history of lactic acidosis
• previous use of metformin intolerant
• Use of angiotensin converting enzyme inhibitors, use of anticoagulants, vitamin B12 deficiency, alcohol consumption
• Unstable systemic diseases other than FXS
• Changes in clinical medication

Trial design

Primary purpose: Treatment

Allocation: Randomized

Interventional model: Parallel Assignment

Masking: Double Blind

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20 participants in 2 patient groups, including a placebo group

Metformin group

Experimental group

Description:

The patients will be obtain Metformin starting from 50mg everyday to 1-2g per day for 6 months.

Treatment:

Drug: Metformin

Placebo group

Placebo Comparator group

Description:

The patients will be obtain starch tablets starting from 50mg everyday to 1-2g per day for 6 months.

Treatment:

Drug: Placebo