We in the Fragile X community have our advocacy work cut out for us to restore levels of federal funding for Fragile X research! Both of the main federal funders – the National Institutes of Health (NIH) and the Department of Defense (DOD) are letting Fragile X research lapse!
You did it! The Fragile X community never ceases to inspire us. Thanks to YOU, we raised OVER $50,000 on #GivingTuesday and our Board of Directors is matching that! We are so grateful for your help kick-starting our annual appeal.
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. Much work is being done right now, with exciting new discoveries coming at a fast and furious pace.
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
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. Eric Klann, PhD Principal Investigator Aditi Bhattacharya, PhD Postdoctoral Fellow New York University 2012 FRAXA Research Grant $90,000 over 2 Years This team examined the mTor pathway in Fragile X – which is also known to be defective in several forms of autism. Their work was published in September 2012 and received international attention. A new method – genetically reducing S6K1 – has reduced several social, behavioral, and physical problems associated with Fragile X syndrome in mice. “We think these results set the stage for a viable pharmacological approach to target S6K1, with the aim of diminishing or even reversing the afflictions associated with Fragile X syndrome,” says Eric Klann. See NYU press release Previous FRAXA Awards to the Klann Lab: $45,000Read more
There was a time when no one ever heard about Fragile X. The days seemed darker and colder back then. 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. Her tremendous energy turned contagious, fueling us to do more. 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, a donation which willRead more
Results of the First Clinical Trial of Minocycline in Fragile X Patients were Published Today, 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. Patients received either 100 mg or 200 mg of minocycline daily, and their behaviors were evaluated prior to treatment and again 8 weeks after daily minocycline. Behavioral scores showed striking improvement and the drug was generally well tolerated. The most significant side effect noted was, in blood tests, an asymptomatic seroconversion to a positive ANA in two people. This is a nonspecific marker of immunoinflammatory connective tissue diseases, so physicians who prescribe minocycline should be aware of itsRead more
Results of First trial of Fenobam in Adults with Fragile X Published in Major Journal 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. Their article in the Journal of Medical Genetics can be accessed free at: http://jmg.bmj.com/cgi/rapidpdf/jmg.2008.063701v1 Highlights of the Study: 1. This was a single dose open label study of fenobam in 6 maleRead more
Three Researchers Honored at FRAXA 2008 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. At the opening reception, FRAXA honored three investigators for taking extraordinary steps to advance research: FRAXARead more
Study leader Iryna Ethell awarded FRAXA Breakthrough Award for 2008 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. Neurons in the brain communicate with each other at specialized contact sites called synapses, with many of these synapses occurring on small mushroom-shaped structures called dendritic spines. During early development dendritic spines have immature finger-like shapes. But learning stabilizes the synapses and dendritic spines take on a mature mushroom shape, which make them more efficient. The brains of patients with Fragile X syndrome have an overabundance of immature dendritic spines. In their report, the researchers, led by Iryna Ethell and Douglas Ethell,Read more
FRAXA Families and Friends Tripled the Goal! 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. On August 28th, FRAXA met the challenge! Doris told us to keep going. Until November 1, the sky would be the limit. 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 Doris Buffettreceived over $3.5 million in new money — all for research aimed at curing or treating Fragile X. This means new clinical trials, new research, new determination to reach for a cure. 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.Read more