FRAXA Research Foundation

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.

Potassium Channel Modulators to Treat Fragile X

January 7, 2014

FRAXA-backed Yale discoveries tied Fragile X to Kv3.1/Slack channel defects—leading to a partnership with Autifony to develop targeted treatments.

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.

Fragile X Treatment Strategy Emerges from FRAXA Research: IGF-1

July 30, 2013

Neuren’s Trofinetide, part of a promising IGF-1 drug class, showed standout results in Fragile X mice—outperforming Rett syndrome models.

Makenzie Cote’s Page

June 13, 2013

In honor of Makenzie, diagnosed with Fragile X at 16 months, our family crafts and sells handmade items to support FRAXA research

Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials

June 11, 2013

FRAXA honored Dr. Emily Osterweil for discovering that lovastatin can correct key Fragile X abnormalities. Her findings were published in Neuron.

Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

June 2, 2013

FRAXA-funded studies found faulty endocannabinoid signaling in Fragile X brain circuits for reward and emotion, and boosting 2-AG restored normal function.

Effects of minocycline on vocal production and auditory processing in a mouse model of Fragile X

June 2, 2013

With FRAXA funding, Dr. Khaleel Razak and Dr. Iryna Ethell explored robust biomarkers relevant to the FXS and the efficacy of minocycline treatment.

Treatment of Fragile X Syndrome via Dopamine Enhancers and Glutamate Inhibitors

June 2, 2013

In Fragile X mice, low dopamine signaling and excessive glutamate activity were targeted with dual therapy: dopamine enhancers plus glutamate inhibitors.

Phase 2b Clinical Trial of Arbaclofen in Autism Has Disappointing Results

May 14, 2013

The Phase 2b arbaclofen trial in autism didn’t improve social withdrawal, but did show progress on the Clinical Global Impression of Severity scale.

Developing IPS cells to Screen Drugs which can Reactivate the FMR1 Gene

March 20, 2013

This project developed human stem cell and mouse models to test FMR1 gene reactivation in the brain, advancing future gene therapy strategies for Fragile X.

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

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

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

New Clue to Fragile X and Autism Found Inside Brain Cells

Scientists Uncover Trigger for Fragile X Syndrome

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

Potassium Channel Modulators to Treat Fragile X

Molecular mechanisms: Enzyme blockers help Fragile X mice

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

Fragile X Syndrome Protein Linked to Breast Cancer Progression

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

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

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

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

The mTOR Pathway in Fragile X Syndrome

Matrix Metalloproteinase Therapeutic Treatments for Fragile X Syndrome

Fragile X Treatment Strategy Emerges from FRAXA Research: IGF-1

Makenzie Cote’s Page

Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials

Endocannabinoid Mediated Synaptic Plasticity in Fragile X Mice

Effects of minocycline on vocal production and auditory processing in a mouse model of Fragile X

Treatment of Fragile X Syndrome via Dopamine Enhancers and Glutamate Inhibitors

Phase 2b Clinical Trial of Arbaclofen in Autism Has Disappointing Results

Developing IPS cells to Screen Drugs which can Reactivate the FMR1 Gene

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