The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing to validate investigational and repurposed compounds for Fragile X.
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.
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.
Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital is recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.
A $90K FRAXA grant will help uncover why Fragile X causes sound hypersensitivity and test ways to correct brain circuit dysfunction linked to auditory overload.
Astrocytes and cholesterol metabolism are altered in Fragile X. This research uncovers how these changes affect the brain and may reveal new treatment targets like lovastatin.
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.
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.
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.
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.
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.
FRAXA-funded open-label trial found that metformin led to increased GABA-mediated cortical inhibition, suggesting metformin modulates core Fragile X pathways.
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.
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.
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.
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.
This FRAXA grant studied why people with Fragile X are overly sensitive to sound and tested drug strategies to calm the brain’s overactive auditory circuits.
FRAXA funded MIT work to probe tolerance to key Fragile X drugs, including mGluR5 inhibitors and arbaclofen, and to identify ways to sustain long-term treatment benefits.
FRAXA funded a trial of AZD7325, a drug that boosts GABA(A), in adults with Fragile X. Led by Dr. Craig Erickson, it also tested innovative biomarkers for future trials.
