FRAXA Drug Validation Initiative (FRAXA-DVI)
The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing to validate investigational and repurposed compounds for Fragile X.
Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra
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.
Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7
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.
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.
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.
Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome
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.
Three-Dimensional Model for Identifying Fragile X Treatments
With a $90K FRAXA grant, Emory scientists are creating Fragile X brain organoids—3D human cell models—to reveal disease mechanisms and guide new treatments.
Pharmacological Tolerance in the Treatment of Fragile X Syndrome
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.
Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X
FRAXA partnered with Healx to use AI to find approved drugs and drug combos that could treat Fragile X. Top candidates are now being tested in Fragile X models.
Fragile X Clinical Trial of AZD7325 in Adults
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.
MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X
The team studied how glial cells, especially astrocytes, affect Fragile X. They tested microRNAs to restore GLT1 and reduce excess glutamate linked to brain hyperexcitability.
Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome
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.
Quantitative Assessment of the Serotonin System in a Mouse Model of Fragile X Syndrome
FRAXA funded Dr. Canal to investigate how different serotonin receptors function in Fragile X, to guide smarter use of serotonin-targeting treatments.