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.
Lysogene Partners with FRAXA Investigator Dr. Hervé Moine to Develop Gene Therapy for Fragile X
Lysogene, a French biopharmaceutical company working to develop gene therapy treatments for brain disorders, is partnering with FRAXA Investigator Dr. Herve Moine to tackle Fragile X.
FRAXA Funded Researchers Present at MA Fragile X Conference
Boston Children’s Hospital hosted a Fragile X conference with FRAXA-funded researchers Dr. Craig Erickson & Dr. Carol Wilkinson presenting.
FRAXA Research Grants Drive Big Investments in Fragile X
FRAXA is working with hundreds of university labs and more than 30 pharmaceutical companies around the world. Dr. Michael Tranfaglia spends a lot of his time advising and collaborating with industry partners.
Can CRISPR Cure Fragile X Syndrome?
CRISPR/Cas9 was used by MIT researchers to remove the molecular tags that keep the mutant gene shut off in Fragile X syndrome neurons and resulted in some of them producing protein normally.
Impact of the Fragile X Community
Because of you, FRAXA invests $1M+ each year in Fragile X research and helped launch $35M more in studies leading to clinical trials.
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.
CRISPR Reactivation of the Fragile X Gene
Using CRISPR to reactivate FMRP, “We are trying to target the first event that goes wrong in Fragile X syndrome”, says FRAXA Investigator, Dr. Peter Todd.
Effects of Metformin in Fmr1 Knockout Mouse Model of Fragile X Syndrome
Metformin, a safe diabetes drug, activates AMPK to rebalance protein synthesis. FRAXA-funded work investigated its potential to treat Fragile X.
Newly Discovered Regulatory Pathways in Fragile X
Studies at Yale University and elsewhere show FMRP plays a significant role in regulation of potassium channels. Potassium channel opener drugs could rescue some symptoms of Fragile X.
In Their Own Words: Reports From the International Fragile X Workshop
The 18th International Fragile X Workshop in Quebec was a great success, featuring more Fragile X research than ever before!
Brain Imbalance Target of Dr. Erickson’s New Clinical Trial
Dr. Erickson’s trial targeted brain imbalance in Fragile X by boosting GABA signaling with AZD7325, aiming to restore excitatory–inhibitory balance and improve symptoms.
Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers
University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, explored drug combinations to limit hypersensitivity to sounds in Fragile X 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.
Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells
FRAXA funded Dr. Peter Todd to use CRISPR to reactivate FMR1. Published results confirmed restored gene expression, a big step toward disease-modifying therapy.
Defining Subcellular Specificity of Metabotropic Glutamate Receptor (mGluR5) Antagonists
This study showed that selectively targeting mGluR5 receptors in specific neuronal compartments can correct distinct Fragile X synaptic defects, improving precision therapy.
Investigating Gene Reactivation to Treat Fragile X Syndrome
With a $180,000 grant from FRAXA Research Foundation, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.
Mechanisms of Tolerance to Chronic mGluR5 Inhibition
FRAXA supported research showing mGluR5 antagonist tolerance develops quickly in Fragile X models, guiding new strategies to prevent or overcome it.
Prefrontal Cortex Network (PFC) Dynamics in Fragile X Syndrome
The team has shown that Fragile X mice have major prefrontal cortex deficits in Fragile X mice. Finding ways to overcome this could reveal new intervention strategies.
Prefrontal Cortex Network (PFC) Dynamics in Fragile X Syndrome
With a $90,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Daniel Johnston and Dr. Jenni Siegel at the University of Texas at Austin are analyzing pre-frontal cortex (PFC) dysfunction in the Fragile X model. They have preliminary evidence that Fragile X mice are severely impaired in a prefrontal cortex (PFC)-dependent task.
$75,000 Raised for Fragile X Research by Friends of FRAXA at our Fall Fling
Over 150 friends joined FRAXA’s Fall Fling at Smith Barn, raising $75K for Fragile X research, including a $25K check hand-delivered!
Correcting Defects in Astrocyte Signaling in Fragile X Syndrome
Astrocytes, brain cells which support neurons, do not transmit signals. Fragile X treatment strategies have been proposed based on correction of “astrocyte phenotypes”.
Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X
With a $35,000 grant from FRAXA, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.
Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome
This work established a high-content synaptic imaging platform for Fragile X cells to test many candidate drugs for their ability to repair synapse structure and function.