2014 Grants Archives

FRAXA Drug Validation Initiative (FRAXA-DVI)

August 13, 2025

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing to validate investigational and repurposed compounds for Fragile X.

Cellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome

April 21, 2021

The team studied how inhibitory brain circuits malfunction in Fragile X and tested ways to restore balance by targeting mGluR and endocannabinoid signaling.

Qionger He, PhD, and Anis Contractor, PhD

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

September 15, 2018

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.

Frank Kooy, PhD, at University of Antwerp

Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

September 2, 2017

Dr. Frank Kooy and colleagues conducted a double blind crossover trial of ganaxolone in patients with Fragile X with FRAXA funding. Results of this study were mixed.

Fragile X Mutant Mouse Models

September 10, 2016

With $375,000 in grants from FRAXA, Dr. David Nelson developed an array of advanced mouse models of Fragile X. These models are available at Jackson Labs (JAX).

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.

Margaret King accepted the FRAXA Pioneer Award on behalf of Dr. Richard Jope, at the 2013 FRAXA Investigators Meeting

Analysis of Developmental Brain Dysfunction in Families

September 12, 2015

No strong behavioral similarities were found between parents and children with Fragile X, indicating family history may not guide clinical trial recruitment.

Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

February 26, 2015

STEP inhibition reversed behavioral and synaptic Fragile X deficits in mice (Neuropharmacology, 2018), highlighting STEP as a promising treatment target.

Targeting the Endocannabinoid System in Adult Fragile X Mice

September 15, 2014

CB1 blockade with rimonabant reversed cognitive, sensory, and seizure symptoms in FXS mice, highlighting the endocannabinoid system as a therapeutic target.

Phase 1 Clinical Trial of Mega Green Tea Extract in Fragile X Syndrome

September 13, 2014

An early trial of green tea extract EGCG improved cognition in Fragile X. It targets ERβ and reduces overactive PI3K/mTOR/ERK signaling linked to FXS symptoms.

Functional Interplay Between FMRP and CDK5 Signaling

September 13, 2014

FRAXA-funded work showed CDK5 signaling is disrupted in Fragile X. CDK5 drugs are in development for Alzheimer’s so this pathway offers a promising new FX treatment angle.

Computational Analysis of Neural Circuit Disruption in Fragile X Model Mice

September 12, 2014

FRAXA-funded researchers used advanced computer models to uncover how FXS brain circuits change and predict which treatments may correct them. Results published.

Synaptic Characterization of Human Fragile X Neurons

September 12, 2014

Stanford scientists used human stem-cell–derived neurons to show that retinoic acid signaling is blocked by Fragile X, revealing a new pathway to target for treatment.

Bcl-xL Inhibition as a Therapeutic Strategy for Fragile X Syndrome

September 12, 2014

Fragile X neurons show leaky mitochondria and excess Bcl-xL–driven synapses. Targeting this pathway may restore energy balance and healthier brain development.

Seizures in Fragile X Syndrome and Therapeutic Potential of NMDA Receptor Antagonists

September 8, 2014

Dr. Wong studies how NMDA and mGluR receptors interact to trigger seizures in Fragile X, revealing NR2B-specific blockers as a promising targeted treatment.