Banerjee team at College of Staten Island

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

Enhancing PKCε in early development normalized oxytocin, AMPAR signaling, and adult behavior in Fragile X mice, highlighting PKCε as a promising therapeutic target.

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

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

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Elizabeth MCullough and Achim Klug

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

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

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Clinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey

In November 2020, a phase II clinical trial reported extremely successful results. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.

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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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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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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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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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Investigating Gene Reactivation to Treat Fragile X Syndrome

With a $180,000 grant from FRAXA Research Foundation, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.

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Paul Lombroso, PhD, Yale University, FRAXA Investigator

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

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

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Social Behavior as an Outcome Measure for Fragile X Clinical Trials

FRAXA funding helped identify reliable social behavior tests in Fragile X mice and showed an mGluR5 treatment could improve sociability, guiding future trials.

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What Works, and What Doesn’t

At the start, it’s always hard to know what methods will work best for something as complex as the development of disease-modifying treatments for Fragile X. But, we’ve always tried to let the science lead us down the right path. At this point, the results are unequivocal, and they have shaped how we are looking for the Next Great Thing in Fragile X treatments.

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AMPAkines and BDNF in Fragile X: UCI Researchers Restore Memory Process in Fragile X

With a $104,498 grant from FRAXA Research Foundation from 2003-2008, Dr. Julie Lauterborn at the University of California has done several studies on dentritic spines and finding treatment targets for memory retention in Fragile X mice.

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Richard Paylor, PhD, at Baylor College of Medicine, FRAXA Research grant

Therapeutic Interventions in FMR1 Knockout and Transgenic Mice: Role of the FMR1 Gene

With FRAXA’s $229K grant, Baylor researchers showed that Fragile X protein levels in the brain affect activity and anxiety in mice and humans.

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W Ted Brown, MD, PhD

Improving Memory Reversal Testing and Treatment with AMPAkines in the Fragile X Knock-Out Mouse

FRAXA-funded Dr. W. Ted Brown studied learning deficits in Fragile X mice and tested Ampakine drugs for potential treatment.

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FRAXA Funded Research

Current Research Grants (38)