Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research

Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research
4 Countries – 10 Teams – $1 Million From finding new treatment targets, to pinpointing outcome measures for future clinical trials, to attempting to reactivate the gene which is silenced in Fragile X syndrome, these innovative scientists will bring us closer to a cure. Improving Clinical Trials Many parents of children with Fragile X know well the struggles of getting their children to sleep through the night. Mice and fruit flies engineered to mimic Fragile X Syndrome also have disrupted sleep. Drs. Westmark and Smith will test potential therapeutics in mice using sleep as an outcome measure and investigate whether sleep could be used as an outcome measure for future clinical trials. The search is on for a simple blood test to measure how well a treatment works for an individual with Fragile X. Dr. Frank Kooy's team investigates. Testing Treatment Targets One of the goals of FRAXA’s research program has been to find biological pathwaysRead more

The mTOR Pathway in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2012-2013, Dr. Eric Klann and Postdoctoral Fellow Dr. Aditi Bhattacharrya of New York University investigated alterations in the mTOR pathway in Fragile X syndrome – which is also known to be defective in several forms of autism. Their work was published in September 2012 and received international attention.

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Spreading Sunshine

When a woman named Doris Buffett decided to embrace us, her warmth spread over us like a blanket, and the impact of her presence was immediate. As mothers and fathers of Fragile X children, we felt encouraged by the light Doris cast our way. We felt honored that the Sunshine Lady and her Foundation directors chose to invest in our children and our future. We were reinvigorated because of her generous financial support and her profound vision. Doris called FRAXA “The Gold Standard” in grass roots charities and donated more than $3 million to FRAXA in challenge grants. With our deepest gratitude, we are once again thanking Doris Buffett’s Sunshine Lady Foundation for her latest gift.

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Clinical Trial of Minocycline Promising

Clinical Trial of Minocycline Promising

Results of the first clinical trial of Minocycline in Fragile X patients has been published, and they suggest that this medication can Improve challenging behaviors commonly seen in Fragile X. Twenty males and females with Fragile X, ages 13-32, participated in this open-label add-on trial at the Fragile X clinic in Toronto, Canada. Dr. Carlo Paribello, himself father of two boys with Fragile X, led the trial which was funded by FRAXA.

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Results of First Fenobam Trial in Adults with Fragile X Published

We are pleased to announce the publication of positive results of a Phase IIa clinical trial of fenobam in Fragile X. Fenobam belongs to a class of compounds known as mGluR5 antagonists. Neuropharm, a specialty pharmaceutical company based in the U.K., received Orphan Drug Designation in the US in 2006 for fenobam in the treatment of Fragile X, after acquiring rights to relevant data on the compound from FRAXA. This trial was conducted in the US by Drs. Randi Hagerman of the UC Davis MIND Institute and Elizabeth Berry-Kravis of the RUSH University Medical Center, and initial results were first announced last summer.

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3 Researchers Honored at FRAXA Investigators Meeting

Over 150 scientists from around the globe gathered in Durham, New Hampshire, for FRAXA Research Foundation’s Investigators Meeting on September 21-24, 2008. They came from Australia, Canada, India, Turkey, the U.S., and eight European countries. Their common goal: “to share, collaborate and publish,” in the words of FRAXA’s Medical Director, Michael Tranfaglia, MD, to find effective treatments and a cure for Fragile X, the foremost inherited cause of mental retardation and autism. Most of the attendees were university-based professors, postdoctoral fellows, and graduate students who have FRAXA research grants. Also participating in the meeting were scientists from the National Institutes of Health (NIMH, NICHD, and NINDS), Neuropharm Group PLC, Hoffman LaRoche Inc., GlaxoSmithKline, Indevus, and Seaside Therapeutics, as well as 20 parents of Fragile X children.

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Researchers Propose Minocycline to Treat Fragile X

Researchers Propose Minocycline to Treat Fragile X

A University of California Riverside team of scientists has found that an available drug called minocycline, used widely to treat acne and skin infections, might also be used to treat Fragile X. The study’s findings have already led to the approval of a FRAXA-funded clinical trial in Toronto, Canada, that will test minocycline in patients with Fragile X.

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Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!

Doris Buffett’s Challenge Grant to FRAXA: Over $1.5 Million for Research!

In the Spring of 2007, Doris Buffett, president of the Sunshine Lady Foundation, challenged FRAXA to raise $500,000 in new funds by November 1 which she’d match. The grand total of new donations received was $1,424,562, with an additional $98,755 in pledges payable by March 1st, for a total of $1,523,317! Together with Ms. Buffett’s initial $500,000 gift, FRAXA received over $3.5 million in new money — all for research aimed at curing or treating Fragile X. Thanks so very much to all of you who helped make this happen. More than 2600 people donated toward the Challenge – it is a true grass-roots community success.

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