Blog

Coming Full Circle – Kathy May Returns back to FRAXA

Co-Founder Kathy May Returns after Two Decades to Write Grants. It’s about discovering new forms of treatments to enhance the mental, emotional and social growth of those affected by fragile X. “And there will be a cure,” she said. “FRAXA is the reason for this hope. I have come full circle to FRAXA and feeling more hopeful than I have in many years.”
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Newly Discovered Regulatory Pathways in Fragile X

Studies at Yale University and elsewhere are showing that FMRP plays a significant role in the regulation of potassium channels. Looking forward, potassium channel opener drugs could rescue some symptoms of fragile X in humans.
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Connectivity as a Biomarker for the Future Fragile X Clinical Trials

With a 2017 grant from FRAXA Research Foundation of $90,000, Dr. Andreas Frick's team at Neurocentre Magendie, in France, will test non-invasive imaging using magnetic resonance imaging (MRI) as a potential biomarker for future fragile X syndrome clinical trials.
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Brain Imbalance Target of Dr. Erickson’s New Clinical Trial

According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with fragile X
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In Their Own Words: Reports From the International Fragile X Workshop

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words. These brief updates from researchers investigating fragile X.
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Fragile X Clinical Trial of AZD7325 in Adults

With a $51,000 grant from FRAXA Research Foundation, Dr. Craig Erickson will conduct a double-blind, placebo-controlled clinical trial of AZD7325 in adults with fragile X syndrome at Cincinnati Children's Hospital.  The compound being studied is an investigational new drug from AstraZeneca that targets GABA (A) receptors.
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Gail O’Mara Raised Funds for Fragile X Research

To recognize and honor the efforts of my delightful grandson James, who with undaunted spirit has met the challenges of living with Fragile X, I plan to run the 2017 New York City Marathon.
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Fragile X in the Forefront of International Conference

Today the 18th International Fragile X and Related Neurodevelopmental Disorders Workshop kicks off in Quebec, Canada. For the next six days, scientists from around the world will gather at this workshop to focus on recent breakthroughs in our understanding of fragile X, autism spectrum disorders (ASD), and related neurodevelopmental disorders. This biennial meeting has been instrumental to the discovery of many disease-causing genes and the development of therapeutic strategies for these disorders.
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Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

With a $66,714 grant from the FRAXA Research Foundation awarded over 2015-2017, Dr. Francois Corbin at the Universite of Sherbrooke will test the safety and synergistic effects of lovastatin and minocycline in patients with fragile X syndrome.
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Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

With a $90,000 grant from FRAXA Research Foundation awarded over 2016-2017, University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, are exploring drug combinations to limit hypersensitivity to sounds in fragile X mice.  
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Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

Drs. Mahmoud Pouladi and Kagistia Utami at the Agency for Science, Technology and Research (A*STAR) in Singapore have won a $67,500 research grant from FRAXA Research Foundation. Their goal is to reactivate the gene which is silenced in people who have fragile X syndrome.
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Fragile X Syndrome Drug Validation Initiative (FRAX-DVI)

The FRAXA Drug Validation Initiative (FRAX-DVI) provides speedy, cost-effective, objective testing of potential new fragile X treatments. FRAXA has funded FRAX-DVI for $50,000 in 2017.
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