Research Results Archives

Researcher analyzing gait patterns on a treadmill for Fragile X syndrome motor function study.

Developmental Motor Phenotype in Fragile X Syndrome

July 12, 2025

A little known sign of Fragile X is unsteady walking. This team is developing outcome measures of gait for future treatment trials. Results published.

Clinical Study of Non-Invasive EEG for Children Ages 2-7

February 5, 2025

Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital recruited children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

October 9, 2024

This Stanford University team assessed combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome. Results published.

Altered Physiology of Primary Visual Cortex in Fragile X Syndrome

September 19, 2024

This team believes inhibitory neurons expressing somatostatin are impaired in Fragile X. They will see if stimulating these neurons has therapeutic potential.

Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells

July 28, 2024

Dr. Cara Westmark’s team will use mice to determine if palatable Atkins-type diets can improve sleep and boost learning skills for those with Fragile X syndrome.

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

November 7, 2023

This project aims to reactivate the FMR1 gene to combat Fragile X Syndrome, with the goal of restoring vital protein function. This work is now funded by a new FRAXA grant.

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

November 20, 2022

A $200K FRAXA grant enabled a successful Phase 2 trial of a PDE4D inhibitor for adult men with Fragile X, showing strong cognitive gains without side effects or tolerance.

Clinical Trial of Metformin for Fragile X Syndrome

October 24, 2021

FRAXA-funded open-label trial found that metformin led to increased GABA-mediated cortical inhibition, suggesting metformin modulates core Fragile X pathways.

Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X

April 5, 2021

FRAXA-funded studies found Fragile X mice show altered auditory circuit function with delayed startle timing and reduced prepulse inhibition, mirroring human sound sensitivity.

Mahmoud A. Pouladi, PhD & Kagistia Utami, PhD of National University of Singapore and Agency for Science, Technology and Research (A*STAR)

Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

October 2, 2020

This team aims to turn the FMR1 gene back on in Fragile X by identifying factors that reactivate the silenced gene and restore production of the missing FMRP protein.

Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome

December 27, 2018

FRAXA’s $90K grant enabled Dr. Zukin to link impaired autophagy to Fragile X. Boosting autophagy restored synaptic proteins and reversed cognitive deficits in mice.

Dr. Thomas Maurin and Dr. Barbara Bardoni, Fragile X researchers and co-authors of a 2025 review on PDE inhibitors published in Cell Reports Medicine.

Research Points to Drugs which Inhibit PDE to Treat Fragile X

November 4, 2018

FRAXA-funded work identified PDE enzymes as key targets in Fragile X, showing that PDE inhibitors can fix signaling and boost synaptic function. PDE4D trials are underway.

Funding opportunities - FRAXA investigators

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

October 3, 2017

University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, explored drug combinations to limit hypersensitivity to sounds in Fragile X mice.

Correcting Defects in Astrocyte Signaling in Fragile X Syndrome

September 14, 2017

Astrocytes, brain cells which support neurons, do not transmit signals. Fragile X treatment strategies have been proposed based on correction of “astrocyte phenotypes”.

Dr. Tom Jongens and Dr. Sean McBride study Fragile X Fruit Flies

Fruit Flies to Model and Test Fragile X Treatments

September 13, 2015

Boosting cAMP signaling restores memory and fixes brain-signaling defects in Fragile X models, suggesting diabetes drugs like metformin may help.

Potassium Channel Modulators to Treat Fragile X

January 7, 2014

FRAXA-backed Yale discoveries tied Fragile X to Kv3.1/Slack channel defects—leading to a partnership with Autifony to develop targeted treatments.

Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

June 2, 2013

FRAXA-funded studies found faulty endocannabinoid signaling in Fragile X brain circuits for reward and emotion, and boosting 2-AG restored normal function.

Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice

February 1, 2011

Fragile X mice show reduced basal cAMP and exaggerated mGluR-LTD; boosting cAMP or blocking specific adenylyl cyclases rescues synaptic and behavioral defects.

Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

January 30, 2011

The Richter lab found that CPEB1 knockdown in Fmr1 KO mice normalized excessive protein synthesis and improved synaptic and memory problems tied to Fragile X.

Developmental Motor Phenotype in Fragile X Syndrome

Clinical Study of Non-Invasive EEG for Children Ages 2-7

Screening Combinatorial Pharmacological Therapies for Fragile X Syndrome

Altered Physiology of Primary Visual Cortex in Fragile X Syndrome

Preclinical Testing of High Fat/Low Carb Diets in Fragile X Mice and Cells

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

Clinical Trial of Metformin for Fragile X Syndrome

Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X

Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome

Research Points to Drugs which Inhibit PDE to Treat Fragile X

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

Correcting Defects in Astrocyte Signaling in Fragile X Syndrome

Fruit Flies to Model and Test Fragile X Treatments

Potassium Channel Modulators to Treat Fragile X

Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

Manipulating Basal and mGluR-Stimulated cAMP Level in FXS Model Mice

Correcting Fragile X Syndrome by Inhibiting the Synaptic RNA-Binding Protein CPEB1

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