What side effects are associated with this type of intervention?

Common treatments for Fragile X Syndrome include medications to manage symptoms such as anxiety, hyperactivity, and seizures. Metformin, which is being studied for its potential benefits in Fragile X Syndrome, is primarily used to improve insulin sensitivity and reduce glucose production in the liver. Known side effects of metformin include gastrointestinal issues such as nausea, vomiting, diarrhea, and abdominal discomfort. Other potential side effects are a metallic taste in the mouth and, rarely, lactic acidosis, which is a serious condition. It is important for patients to discuss these potential side effects with their healthcare provider to ensure the benefits outweigh the risks.

What prior FDA approvals exist?

As of now, there are no FDA-approved drugs specifically for the treatment of Fragile X Syndrome. However, various medications are used off-label to manage symptoms, including antipsychotics, stimulants, and antidepressants. Metformin, which improves insulin sensitivity and reduces glucose production in the liver, is being studied for its potential benefits in treating language deficits, behavior problems, and obesity in individuals with Fragile X Syndrome.

What other types of research exist?

Currently, there are no specific novel alternatives to Metformin mentioned for Fragile X Syndrome in the provided context. However, treatments that target similar mechanisms, such as GLP-1 receptor agonists (e.g., liraglutide) and thiazolidinediones (e.g., pioglitazone), which improve insulin sensitivity and have been used in other conditions, may be considered. Consultation with a healthcare provider is essential to explore these options further.

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Anti-diabetic drug

Metformin for Fragile X Syndrome

Phase 2

Recruiting

Led By Francois Bolduc, MD

Research Sponsored by University of Alberta

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Subject has Fragile X syndrome with a molecular genetic confirmation of the full FMR1 mutation (>200 CGG repeats) or the other loss of function mutations of the FMR1 gene (SNVs and deletions of the gene).

Subjects who are capable of becoming pregnant must use an acceptable method of birth control for the duration of the study. Acceptable forms of birth control include abstinence (only for subjects who are not sexually active), intrauterine devices in place for at least 3 months, oral contraceptives, surgical sterilization, or adequate barrier methods.

Must not have

BMI inferior to 2 standard deviations below the mean for age using the World Health Organization scale.

History of metabolic acidosis or a condition with lactic acidosis.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, week 8, end of treatment/week 16

Awards & highlights

Approved for 20 Other Conditions

All Individual Drugs Already Approved

Summary

This trial tests metformin in people with fragile X syndrome aged 6 to 35 years. Metformin, a diabetes medication, may help improve their behavior, language skills, and control their appetite by balancing brain signals. The study will assess its safety and effectiveness over several months. Metformin, commonly used for diabetes, has shown promise in improving cognitive and behavioral issues in fragile X syndrome based on preliminary studies.

Who is the study for?

This trial is for males and non-pregnant females aged 6-35 with Fragile X syndrome confirmed by genetic testing. Participants must be able to attend clinic visits, have a caregiver involved, speak English or French, and use birth control if applicable. Exclusions include pregnancy, severe vitamin B12 deficiency, certain medical conditions, history of adverse reactions to metformin or recent treatment with it.

What is being tested?

The study tests the safety and effectiveness of metformin compared to a placebo in treating language deficits, behavioral issues, and obesity/excessive appetite in individuals with Fragile X syndrome. It's a double-blind trial where participants are randomly assigned to receive either metformin or placebo over four months.

What are the potential side effects?

While not specified here, common side effects of metformin can include digestive issues like nausea and diarrhea; however specific side effects will be monitored throughout the trial given the unique population.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have Fragile X syndrome confirmed by genetic testing.

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I am using or willing to use an approved birth control method during the study.

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I or my caregiver can fluently understand and communicate in English or French for study materials.

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I am 13 or younger with an IQ of 85 or less and can speak in 3-word phrases.

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I am a male or a non-pregnant, non-breastfeeding female aged between 6 and 35.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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My BMI is much lower than average for my age.

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I have had metabolic acidosis or a condition causing lactic acid buildup.

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I am either younger than 6 or older than 35 years old.

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I am older than 13 years or have an IQ above 85.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, week 8, end of treatment/week 16

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, week 8, end of treatment/week 16

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, week 8, end of treatment/week 16 for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Change from baseline in the Expressive Language Sampling (ELS) mean Number of Different Words (NDW) score

Secondary study objectives

Change from baseline in Event Related Potentials during the Auditory Oddball Paradigm and Pseudoword Paradigm

Change from baseline in Eye Tracking

Change from baseline in The Memory Game

+19 more

Awards & Highlights

Approved for 20 Other Conditions

This treatment demonstrated efficacy for 20 other conditions.

All Individual Drugs Already Approved

Therapies where all constituent drugs have already been approved are likely to have better-understood side effect profiles.

Trial Design

2Treatment groups

Active Control

Placebo Group

Group I: Active Metformin MedicationActive Control1 Intervention

The active metformin medication will be dosed in a weight-dependent manner. For participants under 50kg at baseline, the initial dose will be 250mg once per day, and if this dose is well tolerated, they will increase each week by 250mg until a maximum dose of 1000mg daily is reached. For participants at and above 50kg at baseline, the initial dose will be 500mg once per day, and if this dose is well tolerated, they will increase each week by 500mg until a maximum dose of 2000mg daily is reached. After the 4-week titration period, each participant will continue dosing at his or her maximum tolerated dose daily for the remaining 12 weeks of the study.

Group II: Placebo MedicationPlacebo Group1 Intervention

The placebo will be dosed in a weight-dependent manner. For participants under 50kg at baseline, the initial dose will be 250mg once per day, and if this dose is well tolerated, they will increase each week by 250mg until a maximum dose of 1000mg daily is reached. For participants at and above 50kg at baseline, the initial dose will be 500mg once per day, and if this dose is well tolerated, they will increase each week by 500mg until a maximum dose of 2000mg daily is reached. After the 4-week titration period, each participant will continue dosing at his or her maximum tolerated dose daily for the remaining 12 weeks of the study.

0 / 9Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Metformin, a common treatment being studied for Fragile X Syndrome (FXS), works by improving insulin sensitivity and reducing glucose production in the liver. This is particularly important for FXS patients as it can help manage metabolic issues like obesity and excessive appetite. Moreover, metformin has shown promise in correcting dendritic defects and improving repetitive behaviors in animal models of FXS, indicating potential neurological benefits. These mechanisms are vital for addressing both the metabolic and neurological symptoms associated with FXS, offering a more comprehensive treatment approach.

The safety and efficacy of metformin in fragile X syndrome: An open-label study.Factors Associated with the Need for Insulin as a Complementary Treatment to Metformin in Gestational Diabetes Mellitus.