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NCT Number: NCT05120505

Metformin in Children With Fragile X Syndrome

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.

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Key information

Conditions

Fragile X Syndrome Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Metformin Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Sex Chromosome Disorders X-Linked Intellectual Disability

Age range

2 year–16 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 4

Primary location

Children's Hospital of Fudan University

Shanghai, Shanghai Municipality, 201102, China

Location status: Recruiting

Location contact

Qiong Xu, PhD

CONTACT

[email protected]

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

metformin

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

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.

Primary outcomes

  1. Change of scores of Aberrant Behavior Checklist (ABC)

    Time frame: From baseline to the 6th month

    Difference on the scores of the ABC from baseline to the 6th month. ABC is a 58-item behavior scale ranked from 0("not a problem") to 3("severe problem") being the most severe for each item. 5 subscales include irritability, lethargy, stereotypy , hyperactivity and inappropriate speech. The same parent of patient will complete the checklist from baseline to 6th month. The global score changes of ABC will be measured as the primary outcome.

Study contacts

Contact information is provided by the study sponsor or research team.

Chunchun Hu, MD

CONTACT

[email protected]

862164931275

Qiong Xu, Phd MD

CONTACT

[email protected]

862164931275

Sponsors and collaborators

Lead sponsor

Children's Hospital of Fudan University

Other

Registry information

Official study title

Efficacy and Safety of Metformin in the Treatment of Fragile X Syndrome

Important dates

Study start
2021
Primary completion
2025
Study completion
2025
First posted
Nov 15, 2021
Registry last updated
Feb 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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