In Their Own Words: Reports From the International Fragile X Workshop

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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Lovamix: 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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New compound from Anavex Improves Learning and Behavior in Fragile X Mice

New compound from Anavex Improves Learning and Behavior in Fragile X Mice
A potential new treatment for Fragile X syndrome is showing promise. While still early in development, the investigational drug was able to improve intellectual, learning and hyperactivity measures in a mouse model of Fragile X syndrome. Anavex 2-73 is a sigma-1 receptor agonist being developed for autism spectrum disorders, including Rett syndrome and Fragile X syndrome, and for Alzheimer’s disease. Anavex Life Sciences presented the data at the Gordon Research Conference for Fragile X and Autism-Related Disorders, held June 5-10, 2016 in Mount Snow, VT. The study was sponsored by FRAXA, via the FRAXA Drug Validation Initiative, and performed by Fraunhofer Chile Research, in Santiago, Chile. “The ANAVEX 2-73 data in an array of behavioral paradigms in a validated mouse model of Fragile X is very encouraging. The results are promising for both Fragile X syndrome and Autism Spectrum Disorders, since there is an overlap in the clinical as well asRead more

Fragile X Clinical Trial: Novartis Trial Results Are In, and They’re Not Pretty

AFQ056 Fragile X Clinical Trial showed Negative Results This year's Gordon Conference just finished, and Novartis presented their results for the first time (though advisors and advocates had been given a private peak months ago.) To say that the trial results for AFQ056 were disappointing would be the understatement of the century! While the company has already announced that the adult and adolescent trials failed to meet their pre-designated endpoints, the numbers looked really bad. This wasn't a case of the drug working, but placebo effects leading to an outcome that wasn't statistically significant; in this case, the effect of the drug was statistically significant, but in the wrong direction! So, what went wrong? The evidence for using mGluR5 antagonists in Fragile X was really strong going into these trials---in fact, about as good as it ever gets. The drug itself was an advanced compound that had been studied extensively.Read more

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

Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials
Available Medication Lovastatin Corrects Excess Protein Synthesis in Fragile X Mice Dr. Emily Osterweil At the opening dinner of the 2011 FRAXA Investigators Meeting in Southbridge, MA,  Dr. Emily Osterweil was awarded the FRAXA Pioneer Award for work demonstrating that Lovastatin could treat Fragile X.  Dr. Osterweil conducted her experiments in the MIT laboratory of Dr. Mark Bear; she has since established her own laboratory at the University of Edinburgh. The team discovered that lovastatin, a drug widely prescribed for high cholesterol, can correct excess hippocampal protein synthesis in the mouse model of FXS and can prevent epileptogenesis. The work is published in the prestigious neuroscience journal Neuron: Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome. One implication of the mGluR theory of Fragile X is that there are exaggerated consequences of activation of signaling pathways which link metabotropic glutamate receptors (mGluRs) to the cellular machinery ofRead more

Letter from FRAXA’s Medical Director: State of the Science

On the eve of Thanksgiving, we want to thank everyone who has helped bring us so close to available treatments - and to take stock of where we are. by Michael R. Tranfaglia, MD Medical Director and Fragile X Parent Each year, we’ve described ever greater progress toward our ultimate goal: disease-modifying treatments and an ultimate cure for Fragile X. At times it must seem that this quest will take forever; however, the pace of research has truly moved into high gear in 2011! While FRAXA’s mission to find a cure for Fragile X is simple in concept, it is clearly a daunting task. To address the overwhelming complexity of this challenge, we have developed a plan of attack: • We fund high-quality basic research on the causes of Fragile X, which leads to possible treatment strategies (therapeutic targets). • We fund some of the finest neuroscientists in the worldRead more

FRAXA 2010 Research Awards Funded

4/1/2010 Program Grants and new Postdoctoral Fellowships total over $1.5 million this year. We are very pleased to announce FRAXA 2010 awards. Projects can be viewed at the Research Reports section of this website. These scientists have demonstrated outstanding potential of their FRAXA projects in detailed applications. We aim to help them work toward new treatments for Fragile X. Their projects are at the cutting edge of biomedical technology, and we believe that their work will make a real difference to everyone affected by Fragile X. FRAXA is collaborating with more than a dozen pharmaceutical companies to translate this research into practical treatments for Fragile X. In May, 100 FRAXA-supported researchers will join many of these pharmaceutical industry scientists at the FRAXA Investigators Meeting. There they will put their heads together for our common goal: finding effective treatments and a cure for Fragile X. We extend our most sincere gratitudeRead more