Fragile X Researcher, Cara Westmark, PhD

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

Westmark Lab is studying sleep patterns in Fragile X mice, working with UW-Madison to develop tools that speed EEG data analysis

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fNIRS to Measure Treatment Response in Young Children with Fragile X

The team tested functional near-infrared spectroscopy (fNIRS). fNIRS uses light sources and sensors on the scalp to build a heat map of the brain in action.

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Dr. Jonny Lovelace and Dr. Khaleel Razak

Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.

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Dr. Bettio, Dr. Christie, Dr. Thacker

Targeting Adiponectin to Treat Fragile X Syndrome

Boosting adiponectin, a hormone that regulates metabolism, may improve cognition and behavior in Fragile X. Early results suggest it can restore brain plasticity.

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Deep Molecular Profiling of Fragile X

Deep Molecular Profiling of Fragile X Mouse and Human Cells

Studying human Fragile X neurons from stem cells revealed key gene changes not seen in mice—showing why some treatments failed and guiding better future therapies.

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Targeting Mitochondria

Targeting Mitochondria in Human Fragile X Syndrome Neurons

Fragile X brain cells have fewer, smaller mitochondria. This team tested mitochondria-boosting drugs that improved symptoms in mice to see if they can help humans.

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Nazim Kourdougli and Carlos Portera-Cailleau

Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

FRAXA funded UCLA research on a Kv3.1-targeting drug to ease sensory issues in Fragile X. This work built on Yale-led work now also being pursued by Autifony Therapeutics.

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Gene Therapy Translational Studies for Fragile X Syndrome

With FRAXA funding, researchers tested AAV gene therapy to restore FMRP in Fragile X mice, measuring safety, effectiveness, and brain activity to inform future trials.

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Galarneau lab team

Clinical Trial of Metformin for Fragile X Syndrome

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

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Developmental Profile of Glutamatergic Synapses in Fragile X

A FRAXA fellowship helped reveal how glutamate receptors at synapses develop differently in Fragile X, offering clues to improve learning and memory.

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Ray Turner, PhD and Xiaoqin Zhan, PhD

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

A FRAXA-funded team found that a shortened FMRP protein, delivered with a Tat “carrier,” restores brain signaling and improves behavior in Fragile X mice.

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Stephanie Barnes, PhD

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

FRAXA-backed work revealed NMDA receptors may hold the key to correcting brain signaling in Fragile X, pointing to new treatment strategies.

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Ganaxolone Fragile X Clinical Trial Showed Disappointing Results

Ganaxolone, an experimental drug from Marinus Pharmaceuticals which targets GABA receptors, did not show promise for Fragile X syndrome in a clinical trial.

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FXS Patients’ Social Deficits are Linked to Social Anxiety, Eye-tracking Study Says

Dr. Craig Erickson and colleagues at the University of Cincinnati used eye-tracking technology to understand sociability in Fragile X syndrome. This study affirms what so many parents, caretakers, and educators suspect: people with fragile X want to be social, and it is anxiety – not lack of interest – which usually hold them back. If anxiety could be reduced, more sociability would likely follow. Dr. Erickson is a Fragile X expert and FRAXA investigator who is currently conducting a Fragile X clinical trial of an investigational new drug.

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Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

FRAXA funded a screen of 2,320 FDA-approved compounds in the Fragile X fly model to identify hits that improve memory and social behavior for advanced testing.

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kaczmarek-Hassar-Brown

Novel Modulators of Potassium Channels to Treat Fragile X

FRAXA-funded Yale research showed disrupted Kv3.1 and Slack potassium channels impair neuronal timing in Fragile X. Published findings support Kv3.1 as a treatment target.

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Antonella Borreca, PhD, and Alberto Martire, PhD

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Could “caffeine-like” drugs help Fragile X? FRAXA funded research to test adenosine blockers, which may boost thinking and improve symptoms in Fragile X mice.

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

FRAXA funded a study using blood-based transcriptomics to find reliable Fragile X biomarkers. This unique approach links molecular data to behavior for future trials.

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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

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.

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Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

FRAXA-funded research is revealing how insulin signaling is altered in Fragile X and whether lowering it, including with metformin, could ease symptoms.

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Qionger He, PhD, and Anis Contractor, PhD

NKCC1 Inhibitor Bumetanide Corrects Synaptic and Circuit Hyperexcitability in Fragile X Mouse Model

Dr. Anis Contractor and Dr. Qionger He investigated the potential of the available drug bumetanide to correct altered GABA signalling in a mouse model of Fragile X syndrome.

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Andreas Frick and Kamila Castro

Non-Invasive Imaging as a Biomarker for Fragile X Clinical Trials

FRAXA funded MRI research to track brain connectivity changes in Fragile X. This could yield objective biomarkers for testing treatments in mice and humans.

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Drs. Ingolia, Wren Kim, at University of California at Berkeley

Activity-Dependent Translational Profiling in Fragile X Neurons

FRAXA funded new tools at UC Berkeley to track which proteins Fragile X neurons make during signaling, to find targets that improve learning and brain function.

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Tetra Discovery Partners

Tetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome

This 2-Period Crossover Study of BPN14770 is accepting adults males with Fragile X syndrome at Rush University Medical Center in Chicago. Principal Investigator of the study is Elizabeth Berry-Kravis, MD, PhD.
A selective inhibitor of the phosphodiesterase type-4D (PDE4D), BPN14770 has shown the ability to improve the quality of connections between neurons and to improve multiple behavioral outcomes in the Fragile X mouse model.

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FRAXA Funded Research

Current Research Grants (38)