Metformin in Children With Fragile X Syndrome

NCT ID: NCT05120505

Last Updated: 2025-02-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

PHASE4

Total Enrollment

20 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-12-29

Study Completion Date

2025-12-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Fragile X Syndrome Metformin

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

DOUBLE

Participants Investigators

Study Groups

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Metformin group

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

Group Type EXPERIMENTAL

Metformin

Intervention Type DRUG

The patients in this group will be obtain Metformin starting from 50mg everyday at night, and gradually increase to maximum tolerable dose of 1-2g per day according to weights of patients for 6 months.

Placebo group

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

Group Type PLACEBO_COMPARATOR

Placebo

Intervention Type DRUG

The patients in this group will be obtain starch tablets (which had same appearance and size comparing to Metformin) starting from 50mg everyday to 1-2g per day according to weights of patients for 6 months.

Interventions

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Metformin

The patients in this group will be obtain Metformin starting from 50mg everyday at night, and gradually increase to maximum tolerable dose of 1-2g per day according to weights of patients for 6 months.

Intervention Type DRUG

Placebo

The patients in this group will be obtain starch tablets (which had same appearance and size comparing to Metformin) starting from 50mg everyday to 1-2g per day according to weights of patients for 6 months.

Intervention Type DRUG

Eligibility Criteria

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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
Minimum Eligible Age

2 Years

Maximum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Children's Hospital of Fudan University

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Children's Hospital of Fudan University

Shanghai, Shanghai Municipality, China

Site Status RECRUITING

Countries

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China

Central Contacts

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Qiong Xu, Phd MD

Role: CONTACT

862164931275

Chunchun Hu, MD

Role: CONTACT

862164931275

Facility Contacts

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Qiong Xu, PhD

Role: primary

Other Identifiers

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FXS2021_1.0

Identifier Type: -

Identifier Source: org_study_id

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