ArticleClinical genetics2018
Metformin as targeted treatment in fragile X syndrome.
Article in Clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03862950 (A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome), which is not on this map. Cited by 67 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
A Double-Blind, Placebo-Controlled Trial of Metformin in Individuals With Fragile X Syndrome (FXS)
Who cites it
67 citing papers in PubMed, 2 syntheses or guidelines pooled it, 117 citations in OpenAlex.
- Multidimensional Characterisation of Eating Behaviour in Genetic Obesity: A Systematic Review.Obesity facts · 2026Pooled it
- Pooled it
- Effects of Metformin on children with Fragile X Syndrome: a randomized, double-blind, placebo-controlled trial.Molecular autism · 2025Trial
- Assessment of cognitive and neural recovery in survivors of pediatric brain tumors in a pilot clinical trial using metformin.Nature medicine · 2020Trial
- FYN, a Novel Target of Fragile X Mental Retardation Protein, Potentially Underlies ERK1/2 Hyperactivation in Fragile X Syndrome.Molecular neurobiology · 2026Article
- Impaired Activity-Regulated Proteostasis: A Shared Mechanism in Neurodevelopmental Disorders.Biological psychiatry · 2026Review
- Caregiver-perceived behavioral challenges in fragile X syndrome and implications for measuring treatment benefit in clinical trials.Journal of patient-reported outcomes · 2026Article
- Up-regulation of Minibrain/DYRK1A contributes to macrocephaly and brain overgrowth in aProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Repeat-associated non-AUG translation as a common mechanism for the polyGln ataxias.Cell reports · 2026Article
- Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations.Human molecular genetics · 2025Article
- Prevalence of fragile X syndrome in South Asia, and importance of diagnosis.Medical review (2021) · 2025Review
- From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research.Biomedicines · 2025Review
- Review
- Understanding pathophysiology in fragile X syndrome: a comprehensive review.Neurogenetics · 2024Review
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?Trends in neurosciences · 2024Review
- Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Adiponectin rescues synaptic plasticity in the dentate gyrus of a mouse model of Fragile X Syndrome.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2024Article
- State-of-the-art therapies for fragile X syndrome.Developmental medicine and child neurology · 2024Review
- Development of anFrontiers in pharmacology · 2024Article
- Longitudinal follow-up of metformin treatment in Fragile X Syndrome.Frontiers in psychology · 2024Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundIndividuals with fragile X syndrome (FXS) have both behavioral and medical comorbidities and the latter include obesity in approximately 30% and the Prader-Willi Phenotype (PWP) characterized by severe hyperphagia and morbid obesity in less than 10%. Metformin is a drug used in individuals with type 2 diabetes, obesity or impaired glucose tolerance and it has a strong safety profile in children and adults. Recently published studies in the Drosophila model and the knock out mouse model of FXS treated with metformin demonstrate the rescue of multiple phenotypes of FXS. MATERIALS AND
methodsWe present 7 cases of individuals with FXS who have been treated with metformin clinically. One case with type 2 diabetes, 3 cases with the PWP, 2 adults with obesity and/or behavioral problems and, a young child with FXS. These individuals were clinically treated with metformin and monitored for behavioral changes with the Aberrant Behavior Checklist and metabolic changes with a fasting glucose and HgbA1c.
resultsWe found consistent improvements in irritability, social responsiveness, hyperactivity, and social avoidance, in addition to comments from the family regarding improvements in language and conversational skills. No significant side-effects were noted and most patients with obesity lost weight.
conclusionWe recommend a controlled trial of metformin in those with FXS. Metformin appears to be an effective treatment of obesity including those with the PWP in FXS. Our study suggests that metformin may also be a targeted treatment for improving behavior and language in children and adults with FXS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.