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Case Reports
. 2019 Jul;7(7):e00745.
doi: 10.1002/mgg3.745. Epub 2019 May 18.

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases

Dragana Protic  1   2 , Elber Y Aydin  1   3 , Flora Tassone  1   4 , Maria M Tan  1   5   6 , Randi J Hagerman  1   7 , Andrea Schneider  1   7
Affiliations
Case Reports

Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin-two cases

Dragana Protic et al. Mol Genet Genomic Med. 2019 Jul.

Abstract

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.

Keywords: cognition improvement; fragile X syndrome; metformin; targeted treatment.

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Conflict of interest statement

RH has received funding from Roche, Novartis, Neuren, Marinus, and Alcobra for carrying out treatment studies in patients with fragile X syndrome. She has also consulted with Fulcrum, Ovid and Zynerba regarding treatment studies in individuals with fragile X syndrome. The other authors declare no conflicts of interest.

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