Background

The majority of individuals with fragile X syndrome (FXS) have intellectual disability, behavioral problems, autism, and language deficits. IQ typically declines with age in boys with the full mutation. The results of preclinical studies demonstrated that metformin, a biguanide used to treat type 2 diabetes, rescues multiple phenotypes of FXS in both Drosophila and mouse models. Preliminary studies of patients with FXS demonstrated improvements in behavior.

Methods

Here, we present two cases of individuals who have been treated with metformin clinically for one year.

Results

Both patients demonstrated significant cognitive and behavioral improvements. They also improved eating habits and normalization of their weight percentiles.

Conclusion

Metformin may be a candidate drug for treatment of several types of symptoms in individuals with FXS.