FRAXA Research Foundation

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.

Kimberly Huber, Ph.D., FRAXA Investigator

Targeting mGluR-LTD to Treat Fragile X Syndrome

March 12, 2013

With FRAXA support, Dr. Kimberly Huber uncovered how mGluR signaling contributes to Fragile X, laying the foundation for major clinical advances.

Preclinical Evaluation of Serotonin Receptor Agonists as Novel Pharmacological Tools in Fragile X Syndrome

February 22, 2013

With FRAXA funding the team found that activating 5-HT7 receptors reversed excess mGluR-LTD in Fragile X mice, pointing to a new route to fix synapses.

Small Rho GTPases, a Potential Therapeutic Target for Fragile X Syndrome

January 30, 2013

Dr. MariVi Tejada from the University of Houston tested several potential therapeutic compounds in an attempt to rescue function in the mouse model of Fragile X.

Evaluation of CamKII Dependent Regulation of mGluR5-Homer Scaffolds as a Potential Therapeutic for Fragile X Syndrome

January 30, 2013

Disrupted mGluR5–Homer scaffolding in Fragile X is linked to excess CaMKII activity. Restoring this interaction could rebalance signaling and improve symptoms.

Clinical Trials FAQ ← Frequently Asked Questions

January 11, 2013

Wondering which Fragile X trial is right? Eligibility varies, so most families qualify for just one. Talk with your closest clinic to find the best fit.

Darren’s Smile

January 7, 2013

Darren’s story reminds us how loved he was and how fragile life can be. His father’s memoir honors his life and raises Fragile X awareness.

NPR, “Progress Made On Drug For Autism Symptoms”

September 20, 2012

An experimental drug that helps people who have Fragile X syndrome is raising hopes of a treatment for autism. The drug, called arbaclofen, made people with Fragile X syndrome less likely to avoid social interactions, according to a newly published study. Researchers suspect it might do the same for people with autism.

A Developmental Switch Exists in the Effects of FMRP

September 19, 2012

Fragile X research found that FMRP’s role in synapse development changes with age—early on it builds synapses, later it removes them—via MEF2 signaling.

Fragile X Researcher, Cara Westmark, PhD

Ab-Mediated Translation in Fragile X Syndrome

September 13, 2012

This work found amyloid precursor protein (APP) overexpression and increased β-amyloid in Fragile X mice, implicating Alzheimer-related pathways in FXS pathology.

Synaptic Actin Signaling Pathways in Fragile X

September 11, 2012

Fragile X neurons show excess or mis-timed actin remodeling at synapses caused by FMRP loss. Modulating actin regulators rescued connectivity in mice.

Genetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value

September 2, 2012

Targeting the PI3K/mTOR cascade — specifically p110β — in Fragile X mice reversed neural and behavioral dysfunctions, validating it as a treatment pathway.

Reward Function in Fragile X Syndrome

September 2, 2012

Loss of FMRP disrupts dopamine-driven reward function—Fragile X mice show impaired cocaine sensitization and place preference, revealing new plasticity defects.

A Metabolomic Drug Efficacy Index to Test Treatments in the Fragile X Mouse

September 1, 2012

This work revealed small-molecule metabolic changes in Fragile X brains and is using them to build a drug-efficacy index for screening therapies.

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

August 22, 2012

Researchers found that Fragile X brain circuits show faulty ion channel activity (channelopathies). Fixing these channels may restore normal brain signalling.

FRAXA Announces 2012 Fragile X Research Awards

April 3, 2012

$1.13 million in FRAXA funding in 2012 supported new Fragile X research projects and renewals, advancing work toward better treatments.

In Vitro Coherent Network Activity

February 22, 2012

This work revealed that Fragile X neurons form disordered network dynamics—laying groundwork for using network activity as a treatment-screening metric.

Role of JNK in FMRP Regulated Translation in Fragile X Syndrome

January 31, 2012

JNK kinase is abnormally active in Fragile X model mice and directly regulates mGluR-dependent translation of FMRP targets, pointing to JNK as a therapeutic target.