FRAXA Research Foundation

Kimberly Huber, Ph.D., FRAXA Investigator

NIH Awards $35 Million to Three Fragile X Research Teams

September 23, 2014

NIH is investing $35M in three Fragile X Research Centers. All teams have been funded by FRAXA and will now receive over $2M annually for five years.

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.

Channelopathies: Altered Ion Channels in Fragile X Syndrome

September 15, 2014

Ion channel defects (“channelopathies”) in Fragile X disrupt neuron firing and network balance. This study maps these channel changes to guide targeted treatments.

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.

Novartis Discontinues Development of mavoglurant (AFQ056) for Fragile X Syndrome

April 24, 2014

Mavoglurant trials in Fragile X did not show improvement vs. placebo, leading Novartis to end the program and wind down the open-label extension.

New Clue to Fragile X and Autism Found Inside Brain Cells

March 26, 2014

FRAXA-funded research revealed that mGluR5 isn’t only on the cell surface. Drugs may need to reach internal receptors to be effective in Fragile X.

Samie Jaffrey, PhD, at Weill Medical College of Cornell University, FRAXA research grant

Scientists Uncover Trigger for Fragile X Syndrome

February 27, 2014

A Weill Cornell team discovered that Fragile X stems from a gene being shut off—and a compound that blocks this process may prevent the condition.

Small Molecules To Target r(CGG) Expansions to Treat Fragile X Syndrome

January 24, 2014

FRAXA-funded scientists created small molecules that target the CGG repeat “off-switch” in Fragile X, aiming to restore the missing FMRP protein at its source.

Molecular mechanisms: Enzyme blockers help Fragile X mice

December 13, 2013

Dr. Jope won the 2013 FRAXA Pioneer Award for showing that lithium and other GSK-3–blocking drugs can reverse cognitive deficits in Fragile X mice.

This Is My Brother, speech by Elizabeth Clark at FRAXA’s Fall X Ball

November 8, 2013

At FRAXA’s 11th Annual Fall X Ball, Elizabeth Higgins Clark spoke with humor and heart about her brother David, who has Fragile X.

Fragile X Syndrome Protein Linked to Breast Cancer Progression

September 18, 2013

Dr. Claudia Bagni’s team discovered that FMRP can act as a master switch in aggressive breast cancer, controlling proteins that drive invasion and metastasis.

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

September 13, 2013

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

Translation-Independent Functions of FMRP in Excitability, Synaptic Transmission and Plasticity

September 12, 2013

Study pinpointed presynaptic calcium dysfunction as the driver of STP defects in Fragile X, and BK channel activation restored normal synaptic signaling.

Glycogen Synthase Kinase-3 (GSK3), Lithium and Fragile X

September 12, 2013

Dr. Jope found that lithium (at usual therapeutic doses) and investigational GSK3 inhibitors can reverse a number of cognitive deficits in FMR1 knockout mice.

Development of a Novel GABA-A Agonist in Fragile X Syndrome

September 9, 2013

FRAXA funded analysis of a selective GABA-A drug for Fragile X, leading to a clinical trial at Cincinnati Children’s to test this potential treatment.

The mTOR Pathway in Fragile X Syndrome

September 6, 2013

FRAXA-funded research showed that blocking S6K1 in Fragile X mice improves social, behavioral, and physical symptoms.

Matrix Metalloproteinase Therapeutic Treatments for Fragile X Syndrome

September 2, 2013

Dr. Broadie showed that MMP enzymes disrupt synapse development in Fragile X. MMP inhibitors (e.g. minocycline) improved connectivity and behavior in fruit flies.